Vascular AnomaliesFrom the Dermatologistrsquos Perspective

Aimee Smidt MD FAAD FAAPUniversity of New Mexico School of Medicine

Depts of Dermatology amp PediatricsApril 2018

No conflict of interest to declare

Objectives

bull Become familiar with the updated ISSVA classification system for vascular anomalies

bull Explain the quality of life (QoL) impact of vascular anomalies as a consideration for management

Lecture Overview

bull ISSVA Classification

bull Whatrsquos New

ndashIllustrative Cases

ndashChallenges

ndashGenetics

bull Quality of Life

issvaorgclassification

New classification

approved in 2014

Objectives

bull Become familiar with the updated ISSVA classification system for vascular anomalies

bull Explain the quality of life (QoL) impact of vascular anomalies as a consideration for management

Lecture Overview

bull ISSVA Classification

bull Whatrsquos New

ndashIllustrative Cases

ndashChallenges

ndashGenetics

bull Quality of Life

issvaorgclassification

New classification

approved in 2014

Lecture Overview

bull ISSVA Classification

bull Whatrsquos New

ndashIllustrative Cases

ndashChallenges

ndashGenetics

bull Quality of Life

issvaorgclassification

New classification

approved in 2014

issvaorgclassification

New classification

approved in 2014

ISSVA Abbreviated Classification

bull

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

TUMORS = NEOPLASMS

Benignbull Infantile Hemangioma bull Congenital Hemangioma

ndash Rapidly involutingndash Non- and partially involuting

bull Tufted (Hem)angiomabull Pyogenic granulomaLobular Capillary

Hemangiomabull OthersLocally aggressivebull Kaposiform hemangioendothelioma (KHE)bull Retiform hemangioendotheliomabull Kaposirsquosbull OthersMalignantbull Angiosarcomabull Epithelioid hemangioendothelioma

Infantile Hemangiomas ndash Whatrsquos Newbull GLUT1+ on pathology

bull Typical rapid proliferationndash Earlier than previously thought by 8 weeks

bull Treat for prevention of sequelaebull ldquoActive non-interventionrdquobull Topical timolol (05 gel-forming solution BID)bull Oral propranolol (2-3 mgkgday div BID)

FIRST LINE

Pediatrics 2012 AugEarly growth of infantile hemangiomas what parents photographs tell usTollefson MM1 Frieden IJ

JAMA 2016 JanSafety of Propranolol Therapy for Severe Infantile HemangiomaPrey S et al

N Engl J Med 2015 Feb A randomized controlled trial of oral propranolol in infantile hemangioma (FDA Approval)Leacuteauteacute-Labregraveze C et al

Pediatrics 2013 JanInitiation and use of propranolol for infantile hemangioma report of a consensus conferenceDrolet BA1 et al

Propranolol for Infantile Hemangiomas

bull Indicationsndash Function-threateningsevere disfigurementndash Risk of complications (ulceration)

bull Outpatient if gt8 wks old (corrected)

bull Screen for risk of cardiac dz or asthma (EKG not required if none)

bull Baseline + 1st dose HRBP

bull ALWAYS w feeds hold if ill (risk hypoglycemia)

bull Different dosing guidelinesndash Start at 1 mgkg div BID-TID ndash Increase to 2 mgkg (if needed) after 3-5 days

bull Continue with dose adjustment for weight until 6+ months old taperDC therapy at 12 months

12 mo girlEnlarging left labial massGrowing since 6 months of ageUS ldquoProbable left labial vascular malformation (aka hemangioma)rdquo

Recommended Propranolol vs watchful waiting vs excision

Re-evaluated at 2 yo still growingUS No changeMRI Large heterogeneous mass

Numerous flow voidsUniformly enhancing after contrastFeeding vessels from fem arteryDraining vessels into fem vein cw Hemangioma (other neoplasm)

Path Hemangioma GLUT-1+

Rapidly InvolutingCongenital Hemangiomas (RICH)

GLUT1 negative high flow

Present and largest at birth

Can be associated with thrombocytopenia and heart failure

hellipbut NOT Kasabach-MerrittDIC

Treatment is close monitoring

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

TUMORS = NEOPLASMS

Benignbull Infantile Hemangioma bull Congenital Hemangioma

ndash Rapidly involutingndash Non- and partially involuting

bull Tufted (Hem)angiomabull Pyogenic granulomaLobular Capillary

Hemangiomabull OthersLocally aggressivebull Kaposiform hemangioendothelioma (KHE)bull Retiform hemangioendotheliomabull Kaposirsquosbull OthersMalignantbull Angiosarcomabull Epithelioid hemangioendothelioma

Infantile Hemangiomas ndash Whatrsquos Newbull GLUT1+ on pathology

bull Typical rapid proliferationndash Earlier than previously thought by 8 weeks

bull Treat for prevention of sequelaebull ldquoActive non-interventionrdquobull Topical timolol (05 gel-forming solution BID)bull Oral propranolol (2-3 mgkgday div BID)

FIRST LINE

Pediatrics 2012 AugEarly growth of infantile hemangiomas what parents photographs tell usTollefson MM1 Frieden IJ

JAMA 2016 JanSafety of Propranolol Therapy for Severe Infantile HemangiomaPrey S et al

N Engl J Med 2015 Feb A randomized controlled trial of oral propranolol in infantile hemangioma (FDA Approval)Leacuteauteacute-Labregraveze C et al

Pediatrics 2013 JanInitiation and use of propranolol for infantile hemangioma report of a consensus conferenceDrolet BA1 et al

Propranolol for Infantile Hemangiomas

bull Indicationsndash Function-threateningsevere disfigurementndash Risk of complications (ulceration)

bull Outpatient if gt8 wks old (corrected)

bull Screen for risk of cardiac dz or asthma (EKG not required if none)

bull Baseline + 1st dose HRBP

bull ALWAYS w feeds hold if ill (risk hypoglycemia)

bull Different dosing guidelinesndash Start at 1 mgkg div BID-TID ndash Increase to 2 mgkg (if needed) after 3-5 days

bull Continue with dose adjustment for weight until 6+ months old taperDC therapy at 12 months

12 mo girlEnlarging left labial massGrowing since 6 months of ageUS ldquoProbable left labial vascular malformation (aka hemangioma)rdquo

Recommended Propranolol vs watchful waiting vs excision

Re-evaluated at 2 yo still growingUS No changeMRI Large heterogeneous mass

Numerous flow voidsUniformly enhancing after contrastFeeding vessels from fem arteryDraining vessels into fem vein cw Hemangioma (other neoplasm)

Path Hemangioma GLUT-1+

Rapidly InvolutingCongenital Hemangiomas (RICH)

GLUT1 negative high flow

Present and largest at birth

Can be associated with thrombocytopenia and heart failure

hellipbut NOT Kasabach-MerrittDIC

Treatment is close monitoring

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Infantile Hemangiomas ndash Whatrsquos Newbull GLUT1+ on pathology

bull Typical rapid proliferationndash Earlier than previously thought by 8 weeks

bull Treat for prevention of sequelaebull ldquoActive non-interventionrdquobull Topical timolol (05 gel-forming solution BID)bull Oral propranolol (2-3 mgkgday div BID)

FIRST LINE

Pediatrics 2012 AugEarly growth of infantile hemangiomas what parents photographs tell usTollefson MM1 Frieden IJ

JAMA 2016 JanSafety of Propranolol Therapy for Severe Infantile HemangiomaPrey S et al

N Engl J Med 2015 Feb A randomized controlled trial of oral propranolol in infantile hemangioma (FDA Approval)Leacuteauteacute-Labregraveze C et al

Pediatrics 2013 JanInitiation and use of propranolol for infantile hemangioma report of a consensus conferenceDrolet BA1 et al

Propranolol for Infantile Hemangiomas

bull Indicationsndash Function-threateningsevere disfigurementndash Risk of complications (ulceration)

bull Outpatient if gt8 wks old (corrected)

bull Screen for risk of cardiac dz or asthma (EKG not required if none)

bull Baseline + 1st dose HRBP

bull ALWAYS w feeds hold if ill (risk hypoglycemia)

bull Different dosing guidelinesndash Start at 1 mgkg div BID-TID ndash Increase to 2 mgkg (if needed) after 3-5 days

bull Continue with dose adjustment for weight until 6+ months old taperDC therapy at 12 months

12 mo girlEnlarging left labial massGrowing since 6 months of ageUS ldquoProbable left labial vascular malformation (aka hemangioma)rdquo

Recommended Propranolol vs watchful waiting vs excision

Re-evaluated at 2 yo still growingUS No changeMRI Large heterogeneous mass

Numerous flow voidsUniformly enhancing after contrastFeeding vessels from fem arteryDraining vessels into fem vein cw Hemangioma (other neoplasm)

Path Hemangioma GLUT-1+

Rapidly InvolutingCongenital Hemangiomas (RICH)

GLUT1 negative high flow

Present and largest at birth

Can be associated with thrombocytopenia and heart failure

hellipbut NOT Kasabach-MerrittDIC

Treatment is close monitoring

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Propranolol for Infantile Hemangiomas

bull Indicationsndash Function-threateningsevere disfigurementndash Risk of complications (ulceration)

bull Outpatient if gt8 wks old (corrected)

bull Screen for risk of cardiac dz or asthma (EKG not required if none)

bull Baseline + 1st dose HRBP

bull ALWAYS w feeds hold if ill (risk hypoglycemia)

bull Different dosing guidelinesndash Start at 1 mgkg div BID-TID ndash Increase to 2 mgkg (if needed) after 3-5 days

bull Continue with dose adjustment for weight until 6+ months old taperDC therapy at 12 months

12 mo girlEnlarging left labial massGrowing since 6 months of ageUS ldquoProbable left labial vascular malformation (aka hemangioma)rdquo

Recommended Propranolol vs watchful waiting vs excision

Re-evaluated at 2 yo still growingUS No changeMRI Large heterogeneous mass

Numerous flow voidsUniformly enhancing after contrastFeeding vessels from fem arteryDraining vessels into fem vein cw Hemangioma (other neoplasm)

Path Hemangioma GLUT-1+

Rapidly InvolutingCongenital Hemangiomas (RICH)

GLUT1 negative high flow

Present and largest at birth

Can be associated with thrombocytopenia and heart failure

hellipbut NOT Kasabach-MerrittDIC

Treatment is close monitoring

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

12 mo girlEnlarging left labial massGrowing since 6 months of ageUS ldquoProbable left labial vascular malformation (aka hemangioma)rdquo

Recommended Propranolol vs watchful waiting vs excision

Re-evaluated at 2 yo still growingUS No changeMRI Large heterogeneous mass

Numerous flow voidsUniformly enhancing after contrastFeeding vessels from fem arteryDraining vessels into fem vein cw Hemangioma (other neoplasm)

Path Hemangioma GLUT-1+

Rapidly InvolutingCongenital Hemangiomas (RICH)

GLUT1 negative high flow

Present and largest at birth

Can be associated with thrombocytopenia and heart failure

hellipbut NOT Kasabach-MerrittDIC

Treatment is close monitoring

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Rapidly InvolutingCongenital Hemangiomas (RICH)

GLUT1 negative high flow

Present and largest at birth

Can be associated with thrombocytopenia and heart failure

hellipbut NOT Kasabach-MerrittDIC

Treatment is close monitoring

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Non-Involuting Congenital Hemangiomas (NICH)Whatrsquos New ndash PICH = Partially Involuting

bull Present at birth

bull ldquoRim of pallorrdquo

bull No proliferative phase nor rapid involution

bull GLUT1 negative

bull Persist over time

bull May be painful

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

NICHPICH

bull Treatment

ndash Reassurancemonitoring

ndash Pulsed dye laser

ndash Excision

ndash Medical

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Kaposiform Hemangioendothelioma (KHE)

bull Very rare (1100K)bull Headneck commonbull Early infancy- childhoodbull Genetics still unknownbull Expansilebull Kasabach-Merritt (life

threatening)bull Usually biopsy-provenbull Relapsing coursebull Multidisciplinary (Heme-Onc)

bull Treatmentndash Sirolimus (mTOR inhibition)ndash Steroidsndash Vincristinendash Surgical Excision

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

MALFORMATIONS =

ANOMALOUS VESSELS

bull Capillary (CM)

bull Venous (VM)

bull Lymphatic (LM)

bull Arterial (AM)

bull Arteriovenous (AVM or AVF)

bull Combined (CVM LVM GVM etc)

2014 Classification System(Revised from Mulliken amp Glowacki 1982)

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Capillary Malformations ndash Whatrsquos New

J Hum Genet 2014 DecThe somatic GNAQ mutation c548GgtA (pR183Q) is consistently found in Sturge-Weber syndromeNakashima M et al

bull GNAQ also in non-syndromic CMbull Treatment typically PDL +- NdYag laserbull Early + frequent Ophtho examsbull Risk SWS only if V1 upper lidforehead (lt10)bull In SWS

ndash Close neurodevelopmental monitoringndash Neuro consultanti-epileptics if indicatedndash +- early MRI

Pediatr Dermatol 2018 JanScreening for Sturge-Weber syndrome A state-of-the-art reviewZallmann M et al

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

7 month girl dxrsquod w ldquoKlippel-TrenaunayrdquoMultiple vascular patches becoming darkerAsymmetric hypertrophy left foottoesDevelopmentally normal normocephalicsp PDL with EMLA at outside institution toxicity necessitating PICU admission

MRI CMs LLE hypertrophyLLE dilated tortuous veins (not true VM)No evidence of high flow AM

Diffuse Capillary

Malformation w

Overgrowth (DCMO)

Pediatr Emerg Care 2013

Seizures and methemoglobinemia in an

infant after excessive EMLA applicationLarson A Stidham T Banerji S Kaufman J

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Venous Malformationsbull Slow-flowbull Relatively rarebull Sporadicgt familialbull Present at birth but not always evidentbull Soft compressible bluebull Enlarge with dependency activitybull May extend (much) deeper than appear

bull Aberrant vascular developmentbull Path Poorly circumscribed irregular

endothelial-lined thin-walled vascular channels fewno smooth muscle cells

bull Genetics Endothelial cell receptor TIE2 (somatic)TEK - VMCM Angiopoietin 1amp2

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Venous Malformations Complications

HeadNeck

bull Cosmetic

bull Bleeding

bull Airway

bull Vision

bull Speech nutrition

bull Dentition

bull Sleep

bull Soft tissue bone hypo gt hypertrophy

bull Pathologic fractures

bull Pain

bull Phleboliths

bull Localized intravascular coagulation (D-dimer)

bull Pulmonary hypertension

Extremity Trunk

Venous Malformations Dx amp Managementbull History amp Clinical

bull Coagulation profile (uarrD-dimer darrFibrinogen)

bull MRI

ndash Confirm diagnosis

ndash Delineate extent

bull Multidisciplinary approach ndash Sclerotherapy (Bleomycin)ndash Surgeryndash Laser (NdYag)

bull Role of aspirinanticoagulants

bull Compression for extremity lesionsndash Decreases painndash Limits edemandash Protects epidermisndash Decreases phlebolith formation

Familial Cerebral Cavernous Malformation Syndrome

bull AD w incomplete penetrance

bull CCM1 CCM2 CCM3

bull KRIT1

bull Northern NM Q455X mutation

bull Hyperkeratotic VMs

bull Screen w Brain MRI for intracranial involvement

ldquoBlue Rubber Bleb Nevus Syndromerdquo

bull VMs of skin GI gt other organs

bull Deep blue rubbery blebs range in size

bull GI bleedingbull Unknown genetics to date

bull Treatmentndash Surgeryndash Yagablative laserndash Sirolimus

2 yo girl born w blue patch slowly enlarging over timeAsymptomatic but becomes noticeably larger at timessp multiple IL steroid injections without benefitMRI Contrast-enhancing ldquocw hemangiomardquo isolated to lipUnderwent surgical excision and laser

1 mo baby boyBluish mass since birthEnlarging tense at 2 months

Lymphatic Malformations

bull ldquoNo-flowrdquobull Subtypes

ndash Macrocystic (aka Cystic Hygroma)ndash Microcystic (aka Lymphangioma

circumscriptum ldquoFrog Spawnrdquo)ndash Both

bull LYVE-1 VEGFR-3 PROX1 all involved in lymphatic differentiation

bull PIK3CA isolated in majority of both isolated LM and syndromes

bull Likely de novo somatic or germline mosaic mutations

J Pediatr 2015 AprLymphatic and other vascular malformativeovergrowth disorders are caused by somatic mutations in PIK3CALuks VL Kamitaki N Vivero MP et al

Familial Cerebral Cavernous Malformation Syndrome

bull AD w incomplete penetrance

bull CCM1 CCM2 CCM3

bull KRIT1

bull Northern NM Q455X mutation

bull Hyperkeratotic VMs

bull Screen w Brain MRI for intracranial involvement

ldquoBlue Rubber Bleb Nevus Syndromerdquo

bull VMs of skin GI gt other organs

bull Deep blue rubbery blebs range in size

bull GI bleedingbull Unknown genetics to date

bull Treatmentndash Surgeryndash Yagablative laserndash Sirolimus

2 yo girl born w blue patch slowly enlarging over timeAsymptomatic but becomes noticeably larger at timessp multiple IL steroid injections without benefitMRI Contrast-enhancing ldquocw hemangiomardquo isolated to lipUnderwent surgical excision and laser

1 mo baby boyBluish mass since birthEnlarging tense at 2 months

Lymphatic Malformations

bull ldquoNo-flowrdquobull Subtypes

ndash Macrocystic (aka Cystic Hygroma)ndash Microcystic (aka Lymphangioma

circumscriptum ldquoFrog Spawnrdquo)ndash Both

bull LYVE-1 VEGFR-3 PROX1 all involved in lymphatic differentiation

bull PIK3CA isolated in majority of both isolated LM and syndromes

bull Likely de novo somatic or germline mosaic mutations

J Pediatr 2015 AprLymphatic and other vascular malformativeovergrowth disorders are caused by somatic mutations in PIK3CALuks VL Kamitaki N Vivero MP et al

ldquoBlue Rubber Bleb Nevus Syndromerdquo

bull VMs of skin GI gt other organs

bull Deep blue rubbery blebs range in size

bull GI bleedingbull Unknown genetics to date

bull Treatmentndash Surgeryndash Yagablative laserndash Sirolimus

2 yo girl born w blue patch slowly enlarging over timeAsymptomatic but becomes noticeably larger at timessp multiple IL steroid injections without benefitMRI Contrast-enhancing ldquocw hemangiomardquo isolated to lipUnderwent surgical excision and laser

1 mo baby boyBluish mass since birthEnlarging tense at 2 months

Lymphatic Malformations

bull ldquoNo-flowrdquobull Subtypes

ndash Macrocystic (aka Cystic Hygroma)ndash Microcystic (aka Lymphangioma

circumscriptum ldquoFrog Spawnrdquo)ndash Both

bull LYVE-1 VEGFR-3 PROX1 all involved in lymphatic differentiation

bull PIK3CA isolated in majority of both isolated LM and syndromes

bull Likely de novo somatic or germline mosaic mutations

J Pediatr 2015 AprLymphatic and other vascular malformativeovergrowth disorders are caused by somatic mutations in PIK3CALuks VL Kamitaki N Vivero MP et al

2 yo girl born w blue patch slowly enlarging over timeAsymptomatic but becomes noticeably larger at timessp multiple IL steroid injections without benefitMRI Contrast-enhancing ldquocw hemangiomardquo isolated to lipUnderwent surgical excision and laser

1 mo baby boyBluish mass since birthEnlarging tense at 2 months

Lymphatic Malformations

bull ldquoNo-flowrdquobull Subtypes

ndash Macrocystic (aka Cystic Hygroma)ndash Microcystic (aka Lymphangioma

circumscriptum ldquoFrog Spawnrdquo)ndash Both

bull LYVE-1 VEGFR-3 PROX1 all involved in lymphatic differentiation

bull PIK3CA isolated in majority of both isolated LM and syndromes

bull Likely de novo somatic or germline mosaic mutations

J Pediatr 2015 AprLymphatic and other vascular malformativeovergrowth disorders are caused by somatic mutations in PIK3CALuks VL Kamitaki N Vivero MP et al

1 mo baby boyBluish mass since birthEnlarging tense at 2 months

Lymphatic Malformations

bull ldquoNo-flowrdquobull Subtypes

ndash Macrocystic (aka Cystic Hygroma)ndash Microcystic (aka Lymphangioma

circumscriptum ldquoFrog Spawnrdquo)ndash Both

bull LYVE-1 VEGFR-3 PROX1 all involved in lymphatic differentiation

bull PIK3CA isolated in majority of both isolated LM and syndromes

bull Likely de novo somatic or germline mosaic mutations

J Pediatr 2015 AprLymphatic and other vascular malformativeovergrowth disorders are caused by somatic mutations in PIK3CALuks VL Kamitaki N Vivero MP et al

Lymphatic Malformations

bull ldquoNo-flowrdquobull Subtypes

ndash Macrocystic (aka Cystic Hygroma)ndash Microcystic (aka Lymphangioma

circumscriptum ldquoFrog Spawnrdquo)ndash Both

bull LYVE-1 VEGFR-3 PROX1 all involved in lymphatic differentiation

bull PIK3CA isolated in majority of both isolated LM and syndromes

bull Likely de novo somatic or germline mosaic mutations

J Pediatr 2015 AprLymphatic and other vascular malformativeovergrowth disorders are caused by somatic mutations in PIK3CALuks VL Kamitaki N Vivero MP et al

6 yo boyLifelong facial asymmetry unchangedPtosis superior visual field defectNo other ophthalmologic issuesAffecting QoL

MRI Mostly microcystic LMNo clear cyst gt15 cmPreseptal in R eyelidDoes not involve posterior orbitExtends into infratemporal fossaFlow void More vascular component

Lymphatic Malformations Diagnosis amp Management

bull History amp PE

bull Ultrasound with Doppler

bull MRI with contrast

bull Coagulation profile usually normal

bull Sequelae of large lesions depend on location

bull Common complications

ndash Oozing bleeding

ndash Recurrent infection

bull Management based on site amp extent

ndash Sclerotherapy (Doxycycline STS foam)

ndash Sirolimus

ndash Surgery

ndash (Laser)

bull Lymphatic Anomalies Registry - Boston Childrens

bull lymphaticregistrychildrensharvardedu

Lymphatic Malformations Diagnosis amp Management

bull History amp PE

bull Ultrasound with Doppler

bull MRI with contrast

bull Coagulation profile usually normal

bull Sequelae of large lesions depend on location

bull Common complications

ndash Oozing bleeding

ndash Recurrent infection

bull Management based on site amp extent

ndash Sclerotherapy (Doxycycline STS foam)

ndash Sirolimus

ndash Surgery

ndash (Laser)

bull Lymphatic Anomalies Registry - Boston Childrens

bull lymphaticregistrychildrensharvardedu

Sirolimus for LM

bull Disorders of inappropriate activation of the PI3KAKTmTOR pathway

bull 2010 Off-label usebull 2011 Hammill et al Sirolimus for the

Treatment of Complicated Vascular Anomalies in Children

bull 2015 Phase 2 Clinical Trial resultsbull Cincinnati Childrens Protocol

(Heme-Onc)bull 08 mgm2 per dose BID adjusted by

checking trough levels

bull Indications LM KHE VMbull Early impressions

ndash Works best when initiated youngndash Length of ideal treatment unknown

Klippel-Trenaunay Syndrome (KTS)bull Superficial vascular stain (CM)bull + Soft tissuebony hypertrophybull + Varicose veins +- deep anomaliesbull Ie CVM or CLM or CVLMbull PE auscultation palpation amp limb lengthsbull DopplerDuplexbull MRI (minor or no muscle involvement)bull Sporadic PIK3CA

NOTbull ldquoParkes-Weberrdquo Assocrsquod micro-AVF(s) = RASA1bull Servelle-Martorell VM + bone UNDERgrowth

bull Treatmentndash Ortho evaluation if LLD (gt2cm or progressive)ndash Compressionndash PDLNdYag laserndash Surgery for symptomatic varicositiesndash Micro-sclerotherapy interventions

Teenage girlLarger R buttock at birth by momLimb hypertrophy early in childhood R leg continued uarrlength and girth2004 Genetics eval ldquoKlippel-TrenaunayrdquoFollowed by Ortho sp Numerous procedures including R tibia wedge osteotomy 610Now pain fatigue heavinessReferred by IR concerning MRI amp examWarm to touch Doppler +

Arteriovenous Malformations

bull Fast-flowbull Arterial amp venous vessels

connected wo capillary bedbull Many present at birth but may

not be evident until childhoodbull Headneck especially earcheekbull Increased warmth bruit or thrill is

highly suggestive

bull Stages

1 Quiescentasymptomatic

2 Progressiveinvasive (puberty trauma pregnancy)

3 Deep destruction bone involvement (after yrs)

4 Cardiac decompensation

AVM Diagnosis amp Management

bull Predominance in CNS due to apoptosis-inhibiting milieubull Failure of retiform plexus arteriovenous channels to regress in early

fetal development (Angiotensin1)

bull Am J Hum Genet 2017 Mar Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (MEK1 pathway)

bull History amp PE (Attention to pain warmth hyperkeratosis bleeding)bull Auscultation bedside Doppler bull MRI with contrast (MRA confirm fast-flow extent)bull Angiography prior to intervention

bull Multidisciplinary approach Embolization +- surgery bull Indications Pain enlargement ulceration bleedingbull Avoid partial treatment - May recur amp more difficult to managebull Better results if treat Stage I

Klippel-Trenaunay Syndrome (KTS)bull Superficial vascular stain (CM)bull + Soft tissuebony hypertrophybull + Varicose veins +- deep anomaliesbull Ie CVM or CLM or CVLMbull PE auscultation palpation amp limb lengthsbull DopplerDuplexbull MRI (minor or no muscle involvement)bull Sporadic PIK3CA

NOTbull ldquoParkes-Weberrdquo Assocrsquod micro-AVF(s) = RASA1bull Servelle-Martorell VM + bone UNDERgrowth

bull Treatmentndash Ortho evaluation if LLD (gt2cm or progressive)ndash Compressionndash PDLNdYag laserndash Surgery for symptomatic varicositiesndash Micro-sclerotherapy interventions

Teenage girlLarger R buttock at birth by momLimb hypertrophy early in childhood R leg continued uarrlength and girth2004 Genetics eval ldquoKlippel-TrenaunayrdquoFollowed by Ortho sp Numerous procedures including R tibia wedge osteotomy 610Now pain fatigue heavinessReferred by IR concerning MRI amp examWarm to touch Doppler +

Arteriovenous Malformations

bull Fast-flowbull Arterial amp venous vessels

connected wo capillary bedbull Many present at birth but may

not be evident until childhoodbull Headneck especially earcheekbull Increased warmth bruit or thrill is

highly suggestive

bull Stages

1 Quiescentasymptomatic

2 Progressiveinvasive (puberty trauma pregnancy)

3 Deep destruction bone involvement (after yrs)

4 Cardiac decompensation

AVM Diagnosis amp Management

bull Predominance in CNS due to apoptosis-inhibiting milieubull Failure of retiform plexus arteriovenous channels to regress in early

fetal development (Angiotensin1)

bull Am J Hum Genet 2017 Mar Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (MEK1 pathway)

bull History amp PE (Attention to pain warmth hyperkeratosis bleeding)bull Auscultation bedside Doppler bull MRI with contrast (MRA confirm fast-flow extent)bull Angiography prior to intervention

bull Multidisciplinary approach Embolization +- surgery bull Indications Pain enlargement ulceration bleedingbull Avoid partial treatment - May recur amp more difficult to managebull Better results if treat Stage I

Teenage girlLarger R buttock at birth by momLimb hypertrophy early in childhood R leg continued uarrlength and girth2004 Genetics eval ldquoKlippel-TrenaunayrdquoFollowed by Ortho sp Numerous procedures including R tibia wedge osteotomy 610Now pain fatigue heavinessReferred by IR concerning MRI amp examWarm to touch Doppler +

Arteriovenous Malformations

bull Fast-flowbull Arterial amp venous vessels

connected wo capillary bedbull Many present at birth but may

not be evident until childhoodbull Headneck especially earcheekbull Increased warmth bruit or thrill is

highly suggestive

bull Stages

1 Quiescentasymptomatic

2 Progressiveinvasive (puberty trauma pregnancy)

3 Deep destruction bone involvement (after yrs)

4 Cardiac decompensation

AVM Diagnosis amp Management

bull Predominance in CNS due to apoptosis-inhibiting milieubull Failure of retiform plexus arteriovenous channels to regress in early

fetal development (Angiotensin1)

bull Am J Hum Genet 2017 Mar Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (MEK1 pathway)

bull History amp PE (Attention to pain warmth hyperkeratosis bleeding)bull Auscultation bedside Doppler bull MRI with contrast (MRA confirm fast-flow extent)bull Angiography prior to intervention

bull Multidisciplinary approach Embolization +- surgery bull Indications Pain enlargement ulceration bleedingbull Avoid partial treatment - May recur amp more difficult to managebull Better results if treat Stage I

Arteriovenous Malformations

bull Fast-flowbull Arterial amp venous vessels

connected wo capillary bedbull Many present at birth but may

not be evident until childhoodbull Headneck especially earcheekbull Increased warmth bruit or thrill is

highly suggestive

bull Stages

1 Quiescentasymptomatic

2 Progressiveinvasive (puberty trauma pregnancy)

3 Deep destruction bone involvement (after yrs)

4 Cardiac decompensation

AVM Diagnosis amp Management

bull Predominance in CNS due to apoptosis-inhibiting milieubull Failure of retiform plexus arteriovenous channels to regress in early

fetal development (Angiotensin1)

bull Am J Hum Genet 2017 Mar Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (MEK1 pathway)

bull History amp PE (Attention to pain warmth hyperkeratosis bleeding)bull Auscultation bedside Doppler bull MRI with contrast (MRA confirm fast-flow extent)bull Angiography prior to intervention

bull Multidisciplinary approach Embolization +- surgery bull Indications Pain enlargement ulceration bleedingbull Avoid partial treatment - May recur amp more difficult to managebull Better results if treat Stage I

AVM Diagnosis amp Management

bull Predominance in CNS due to apoptosis-inhibiting milieubull Failure of retiform plexus arteriovenous channels to regress in early

fetal development (Angiotensin1)

bull Am J Hum Genet 2017 Mar Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation (MEK1 pathway)

bull History amp PE (Attention to pain warmth hyperkeratosis bleeding)bull Auscultation bedside Doppler bull MRI with contrast (MRA confirm fast-flow extent)bull Angiography prior to intervention

bull Multidisciplinary approach Embolization +- surgery bull Indications Pain enlargement ulceration bleedingbull Avoid partial treatment - May recur amp more difficult to managebull Better results if treat Stage I

15 yo girl born with red patches on L foot to legDxrsquod w ldquoKlippel-Trenaunayrdquo in MexicoRecent profuse bleeding after minor injury in PEOn exam warm-hot hypertrophic Doppler +

Multiple foci of AVM in ankle knee and thighSp Onyx embolization subsequent amputationOngoing treatment

15 month old boyLLE overgrowth + CMWarm nontender Doppler + L foot very slightly cooler than R

AVM intramuscular arteriolovenular microshunting

CM-AVMRASA1+Risk of intra- and extracranial AVMVariable expressivityBrainspine imaging normal

10-year-old boyMultiple vascular malformations lipomasOvergrowth of the hands feet trunksp surgical debulkingexcision symptomatic lesionsMost consistent with CLOVES syndrome

CLOVES Syndromebull Congenital Lipomatous Overgrowth

Vascular malformations Epidermal nevi and ScoliosisSkeletalSpinal anomalies

bull Somatic mosaicism postzygotic activating mutations in PIK3CAbull Extremely rare (n 100) variable signssymptoms

1 Fatty Truncal Mass ndash Usually at birthndash Back abdomen groin may extend in chest abd spinal canalndash Covered with red-pinkish CM

2 Vascular Anomaliesndash Abnormal lymphatic and venous channelsndash Sometimes more aggressive AVM (spinal)

3 Abnormal extremities and scoliosis ndash Very wide hands or feet large fingers or toes wide space

between digits and uneven size of extremities4 Skin abnormalities

ndash Prominent veins capillaryvenouslymphatic malformations and epidermal nevi

5 Other abnormalitiesndash Small or absent kidney abnormal patella knee and hip joints

Dx can be established right after birth possibly prenatal with imaging

It can be very challenginghellipbull 1 month old baby boybull Referred from pediatrician 3 hours awaybull Extensive capillaryvenous

malformations lipomatous hypertrophy epidermal nevi normal head size CLOVE syndrome

bull Staged discussion with parentsbull Required building relationship over timebull Gatekeeper Role for Dermatology

Multidisciplinary carebull IR ablation of anomalous vesselsbull CO2 laser of surface bleeding plaquesbull Sirolimus ongoingbull Partial amputation

9 yo boyMultiple CMs over face trunk and extremities (R leg) since birthR leg progressively smaller and shorter Numerous pulsed dye laser with benefit at another institutionMacrocephaly truncal dysmorphology learning disabilityPrevious diagnosis Klippel-TrenaunayM-CM

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

15 month old boyLLE overgrowth + CMWarm nontender Doppler + L foot very slightly cooler than R

AVM intramuscular arteriolovenular microshunting

CM-AVMRASA1+Risk of intra- and extracranial AVMVariable expressivityBrainspine imaging normal

10-year-old boyMultiple vascular malformations lipomasOvergrowth of the hands feet trunksp surgical debulkingexcision symptomatic lesionsMost consistent with CLOVES syndrome

CLOVES Syndromebull Congenital Lipomatous Overgrowth

Vascular malformations Epidermal nevi and ScoliosisSkeletalSpinal anomalies

bull Somatic mosaicism postzygotic activating mutations in PIK3CAbull Extremely rare (n 100) variable signssymptoms

1 Fatty Truncal Mass ndash Usually at birthndash Back abdomen groin may extend in chest abd spinal canalndash Covered with red-pinkish CM

2 Vascular Anomaliesndash Abnormal lymphatic and venous channelsndash Sometimes more aggressive AVM (spinal)

3 Abnormal extremities and scoliosis ndash Very wide hands or feet large fingers or toes wide space

between digits and uneven size of extremities4 Skin abnormalities

ndash Prominent veins capillaryvenouslymphatic malformations and epidermal nevi

5 Other abnormalitiesndash Small or absent kidney abnormal patella knee and hip joints

Dx can be established right after birth possibly prenatal with imaging

It can be very challenginghellipbull 1 month old baby boybull Referred from pediatrician 3 hours awaybull Extensive capillaryvenous

malformations lipomatous hypertrophy epidermal nevi normal head size CLOVE syndrome

bull Staged discussion with parentsbull Required building relationship over timebull Gatekeeper Role for Dermatology

Multidisciplinary carebull IR ablation of anomalous vesselsbull CO2 laser of surface bleeding plaquesbull Sirolimus ongoingbull Partial amputation

9 yo boyMultiple CMs over face trunk and extremities (R leg) since birthR leg progressively smaller and shorter Numerous pulsed dye laser with benefit at another institutionMacrocephaly truncal dysmorphology learning disabilityPrevious diagnosis Klippel-TrenaunayM-CM

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

10-year-old boyMultiple vascular malformations lipomasOvergrowth of the hands feet trunksp surgical debulkingexcision symptomatic lesionsMost consistent with CLOVES syndrome

CLOVES Syndromebull Congenital Lipomatous Overgrowth

Vascular malformations Epidermal nevi and ScoliosisSkeletalSpinal anomalies

bull Somatic mosaicism postzygotic activating mutations in PIK3CAbull Extremely rare (n 100) variable signssymptoms

1 Fatty Truncal Mass ndash Usually at birthndash Back abdomen groin may extend in chest abd spinal canalndash Covered with red-pinkish CM

2 Vascular Anomaliesndash Abnormal lymphatic and venous channelsndash Sometimes more aggressive AVM (spinal)

3 Abnormal extremities and scoliosis ndash Very wide hands or feet large fingers or toes wide space

between digits and uneven size of extremities4 Skin abnormalities

ndash Prominent veins capillaryvenouslymphatic malformations and epidermal nevi

5 Other abnormalitiesndash Small or absent kidney abnormal patella knee and hip joints

Dx can be established right after birth possibly prenatal with imaging

It can be very challenginghellipbull 1 month old baby boybull Referred from pediatrician 3 hours awaybull Extensive capillaryvenous

malformations lipomatous hypertrophy epidermal nevi normal head size CLOVE syndrome

bull Staged discussion with parentsbull Required building relationship over timebull Gatekeeper Role for Dermatology

Multidisciplinary carebull IR ablation of anomalous vesselsbull CO2 laser of surface bleeding plaquesbull Sirolimus ongoingbull Partial amputation

9 yo boyMultiple CMs over face trunk and extremities (R leg) since birthR leg progressively smaller and shorter Numerous pulsed dye laser with benefit at another institutionMacrocephaly truncal dysmorphology learning disabilityPrevious diagnosis Klippel-TrenaunayM-CM

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

CLOVES Syndromebull Congenital Lipomatous Overgrowth

Vascular malformations Epidermal nevi and ScoliosisSkeletalSpinal anomalies

bull Somatic mosaicism postzygotic activating mutations in PIK3CAbull Extremely rare (n 100) variable signssymptoms

1 Fatty Truncal Mass ndash Usually at birthndash Back abdomen groin may extend in chest abd spinal canalndash Covered with red-pinkish CM

2 Vascular Anomaliesndash Abnormal lymphatic and venous channelsndash Sometimes more aggressive AVM (spinal)

3 Abnormal extremities and scoliosis ndash Very wide hands or feet large fingers or toes wide space

between digits and uneven size of extremities4 Skin abnormalities

ndash Prominent veins capillaryvenouslymphatic malformations and epidermal nevi

5 Other abnormalitiesndash Small or absent kidney abnormal patella knee and hip joints

Dx can be established right after birth possibly prenatal with imaging

It can be very challenginghellipbull 1 month old baby boybull Referred from pediatrician 3 hours awaybull Extensive capillaryvenous

malformations lipomatous hypertrophy epidermal nevi normal head size CLOVE syndrome

bull Staged discussion with parentsbull Required building relationship over timebull Gatekeeper Role for Dermatology

Multidisciplinary carebull IR ablation of anomalous vesselsbull CO2 laser of surface bleeding plaquesbull Sirolimus ongoingbull Partial amputation

9 yo boyMultiple CMs over face trunk and extremities (R leg) since birthR leg progressively smaller and shorter Numerous pulsed dye laser with benefit at another institutionMacrocephaly truncal dysmorphology learning disabilityPrevious diagnosis Klippel-TrenaunayM-CM

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

It can be very challenginghellipbull 1 month old baby boybull Referred from pediatrician 3 hours awaybull Extensive capillaryvenous

malformations lipomatous hypertrophy epidermal nevi normal head size CLOVE syndrome

bull Staged discussion with parentsbull Required building relationship over timebull Gatekeeper Role for Dermatology

Multidisciplinary carebull IR ablation of anomalous vesselsbull CO2 laser of surface bleeding plaquesbull Sirolimus ongoingbull Partial amputation

9 yo boyMultiple CMs over face trunk and extremities (R leg) since birthR leg progressively smaller and shorter Numerous pulsed dye laser with benefit at another institutionMacrocephaly truncal dysmorphology learning disabilityPrevious diagnosis Klippel-TrenaunayM-CM

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

9 yo boyMultiple CMs over face trunk and extremities (R leg) since birthR leg progressively smaller and shorter Numerous pulsed dye laser with benefit at another institutionMacrocephaly truncal dysmorphology learning disabilityPrevious diagnosis Klippel-TrenaunayM-CM

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

Macrocephaly-Capillary Malformation (MCM)aka Megalencephaly-Capillary Malformation-

Polymicrogyria Syndrome (MCAP)

bull Macrocephaly

bull Congenital macrosomia

bull Extensive cutaneous CMs

bull Body asymmetry (lipomatous)

bull Extrafused fingerstoes

bull Lax joints

bull Doughy skin

bull Variable dev delays

bull Other neuro eg seizures hypotonia

bull PIK3CA

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

SOME THINGS IrsquoVE LEARNEDhellip MIMICKERS

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

11 mo boyIsolated mass since birthProgressively enlarging nontenderOutside MRI cw LM

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

US-guided sclero x 2 some improvementLesion refillingSurgical excision ndashPath demonstrated Dermoid Cyst

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

Teenage girlLifelong ho ldquohemangiomardquoProgressively enlarging affecting QoLMultiple cutaneous lesionshellip NF1

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

QoL amp Vascular Anomalies

bull Little objective data on QoL and vascular birthmarks other than hemangiomas

bull Marked QoL impact in multiple domainsbull Better more specific dataindices needed

bull Consider parentalpatient response different at different ages

bull Need to ask (or project empathy) in order to know

bull Validate concernsbull Recognizeconfirm parental reaction(s) as a

normal phenomenonbull Project confidence knowledge experience

misinformation is a common situationbull Express commitment to long term carebull Seek outside help ndash within dermatology

behavioral health online and multidisciplinary

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

Lifelong chronicity and Multidisciplinary care

bull Often our role as dermatologists isndash Appropriate diagnosisndash Parental assistancendash Organizing andor executing on referralsndash Ensuring multispecialty care when needed

bull Critical role of radiologic interpretation

bull Vascular anomalies centers for more complex situations

bull Outside resourcesndash National Organization of Vascular

Anomalies (NOVA)ndash ISSVAndash Vascular Birthmarks Foundation

bull Ideally QoL (both parental and patient) should be a metric assessed at each visit

bull Treatments should be undertaken to alleviate QoL impairments

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

Who we arehellip

Pediatric Radiology

Interventional Radiology

Dermatology

Plastic Surgery

Pediatric Ortho

Oculo-Plastics

Pediatric ENT

Dermato-pathology

ENT-Facial

Plastic Surgery

Neuro-Interventional Radiology

Neuro-Surgery

Pediatric Heme-Onc

Genetics

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

ldquoTell them what you told themrdquobull Vascular Tumors

ndash Infantile vs Congenital Hemangiomasndash Propranolol guidelinesndash KHE

bull Vascular Malformationsndash Low or no flow CM (DCMO SWS) VM LM (Macro vs Micro) Combinedndash High flow AVMAVFndash Emerging role of sirolimus

bull Genetic Syndromes ndash PIK3CA-overgrowth

bull CLOVEbull MCMbull Klippel-Trenaunay (CLVM)

ndash RASA (CM-AVM)ndash TIE2 (VM MCVM)

bull Beware mimickersbull Know your radiologistpathologistbull Remember QoL as a driver for treatmentbull Need for multidisciplinary care

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

ISSVA Abbreviated Classification

bull

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu

It takes a villagehellip

hellip Thank Youasmidtsaludunmedu