GOLTZ SYNDROME - cdn.ymaws.com · Case presentation 17 year old female with established diagnosis...

GOLTZ SYNDROMENSU-COM / LARKIN COMMUNITY HOSPITAL

P R E S E N T E R S : A N N R E E D, D O, H Y U N H E E PA R K , D O, J U L I E F R E D E R I C K S O N , D O .

P R O G R A M D I R E C T O R : S TA N L E Y S KO P I T, D O , M S E , FA O C D

Case presentation 17 year old female with established diagnosis of Goltz syndrome presented to our office

Jan. 2011 with c/o “Dry skin and itchy scalp” PE: Syndromic facies w/ aniridia, microphthalmia, short stature, sparse hair, hypodontia,

syndactyly, blaschko linear hyper and hypopigmentation, perioral papillomas, scaly scalp and xerotic skin

Dx: Xerosis Cutis , Seborrhea and alopecia in patient with Goltz Tx: Ketoconazole 2% shampoo MWF alt with T/Sal

Lidex solution BID x 2 weeks to scalpCerave/Cetaphil to bodyBiotin 2500 mcg daily

Bx’s: 3/8/11 Shave biopsy (R labial commissure) - Verruca with candidiasis3/22/11 Shave biopsy (L labial commissure) - Impetiginized Verruca with candidiasisKetoconazole 2% cream BID given for topical treatment

Goltz Syndrome OverviewFocal Dermal Hypoplasia or Goltz-Gorlin syndrome

Rare genodermatosis

Multiple abnormalities of mesodermal and ectodermal tissues

First described by Dr. Goltz in 1962

Approximately 300 reported cases worldwide

InheritanceX-linked dominant 90% female

Lethal in males with non-mosaic

hemizygous mutations

10% affected individuals: males with genomic or functional mosaicism

95% of cases are sporadic

Gene locus Xp11.23

Mutation in PORCN gene lack of Wnt signaling

Variability in clinical severity (lyonization)

Goltz SyndromeCutaneous Findings

Wu M-C et al. / Dermatologica Sinica 29 (2011) 59-62

Wang L et al. Focal dermal hypoplasia updates. Oral Diseases. 2014; 20:17–24

Goltz SyndromeExtracutaneousFindings

Non Cutaneous features include:Facial abnormalities

Skeletal features

CNS features

Ear, Dental and Ocular abnormalities

Cardiopulmonary

GI

GU

Asymmetry of the face Low-set protruding ears Narrow nasal bridge and

broad nasal tip with unilateral notch of the nasal alae

Pointed chin

Colobomas, anophthalmia, microphthalmia, strabismus, nystagmus, and ectopia lentis

Prognathism, agenesis or dysplasia of the teeth, delayed tooth formation/eruption, microdontia, irregular spacing and malocclusion, enamel defects, notching of the incisors or extra incisors.

Osteopathia Striata

Gastrointestinal features:• Malrotation of the intestine• Papillomatous lesions of the

esophagus leading to obstruction• Gastric polyps• Gastric reflux with laxity of the

hiatus• Diaphragmatic hernia• Omphalocele• Hernias, rectal prolapse, and

perianal papillomas

Genitourinary features:• Abnormalities of the kidneys

or ureters (eg, bifid ureter, renal pelvis)

• Horseshoe kidney

• Hypoplastic or absent kidney

FOCAL MnemonicFemale gender

Osteopathia striata

Coloboma

Absent ectodermis-, mesodermis-, and neurodermis-derived elements

Lobster claw deformity

Work-up Chest x-ray:

Costovertebral defects Diaphragmatic hernia

Eye examination: Colobomas Abdominal MRI: Diaphragmatic hernia Renal ultrasound: Structural anomalies of the kidneys

and urinary collecting system Hearing evaluationMedical genetics consultation

Pathology Reduction in

dermal collagen

Telangiectasia Adipocytes of

varying sizes in upper dermis

Labs No associated lab abnormalities reported with this

syndrome in > 350 journal articles searched on PubMed Follow routine surveillance guidelines established for

the general population

Monitoring Dermatologist – for painful and pruritic erosive lesions Otolaryngologist – papillomas of the larynx Dental – Every 6 months for enamel hypoplasia leading

to dental caries Physical/occupational therapy and Orthopedic surgeon

– hand and foot malformations, etc. Ophthalmologist – eye abnormalities

Management Supportive

Subspecialist referral

Pulsed dye laser (telangiectasias)

Cryotherapy (giant papillomas)

Prevention of secondary complications

Genetic counseling

Prenatal Diagnosis•Prenatal ultrasonographic findings variable:• Nonspecific fetal growth delay to specific organ and/or developmental

anomalies• Contingent on the degree to which an individual is affected

•Prenatal molecular genetic testing is possible for pregnancies at increased risk if the disease-causing mutation in the family has been identified:• Amniocentesis (15-18 weeks)• Chorionic villus sampling (10-12 weeks)

Support Resources National Foundation for Ectodermal Dysplasias

www.nfed.org

Ectodermal Dysplasia Societywww.ectodermaldysplasia.org

Case presentation 17 year old female with established diagnosis of Goltz syndrome presented to our office

Jan. 2011 with c/o “Dry skin and itchy scalp” PE: Syndromic facies w/ aniridia, microphthalmia, short stature, sparse hair, hypodontia,

syndactyly, blaschko linear hyper and hypopigmentation, perioral papillomas, scaly scalp and xerotic skin

Dx: Xerosis Cutis , Seborrhea and alopecia in patient with Goltz Tx: Ketoconazole 2% shampoo MWF alt with T/Sal

Lidex solution BID x 2 weeks to scalpCerave/Cetaphil to bodyBiotin 2500 mcg daily

Bx’s: 3/8/11 Shave biopsy (R labial commissure) - Verruca with candidiasis3/22/11 Shave biopsy (L labial commissure) - Impetiginized Verruca with candidiasisKetoconazole 2% cream BID given for topical treatment

References1. Alster TS, Wilson F. Focal dermal hypoplasia (Goltz's syndrome). Treatment of cutaneous lesions with the 585-nm

flashlamp-pumped pulsed dye laser. Arch Dermatol. 1995 Feb. 131(2):143-4

2. Bolognia JL, Jorizzo JL, Schaffer JV. Dermatology. 3rd ed. 2012. Elsevier Saunders. 2012: 951.

3. Calonje E. McKee's Pathology of the Skin, With Clinical Correlations. Saunders; 2012.

4. Castelo-Soccio L. Focal Dermal Hypoplasia Syndrome Clinical Presentation. Updated: Dec 16, 2014. Accessed on 08/25/15. http://emedicine.medscape.com/article/1110936-overview#a6.

5. James WD, Berger TG, Elston DM. Andrews’ Diseases of the Skin Clinical Dermatology. 11th ed. Philadelphia: Elsevier. 2011: 565-566.

6. Liu J, Hsu PT, VanderWielen BA, Teng JM. Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. Pediatr Dermatol. 2012 May-Jun;29(3):324-6.

7. Murakami C, De oliveira lira ortega A, Guimarães AS, Gonçalves-bittar D, Bönecker M, Ciamponi AL. Focal dermal hypoplasia: a case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011;112(2):e11-8.

References8. Patterson JW, Ph.D. GA. Weedon's Skin Pathology. Churchill Livingstone; 2015.

9. Perioral and Genital Lesions. Copyright 2003-2006 by AOCD Grand Rounds. Submitted on: Mar 14, 2010, Accessed on 08/25/15

10. Purvis, D. Alkindi, S. Focal Dermal Hypoplasia (Goltz Syndrome). DermNet NZ. Accessed on 08/25/15 http://www.dermnetnz.org/systemic/goltz.html

11. Sakar S, Patra C, Das, A, Roy S. Goltz Syndrome: A newborn ectrodactyly and skin lesions. Indian J Dermatol 2015;60:215

12. Sutton VR, Van den Veyver IB. Focal Dermal Hypoplasia. 2008 May 15 [Updated 2013 Apr 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov.ezproxylocal.library.nova.edu/books/NBK1543/

11. Wang L et al. Focal dermal hypoplasia updates. Oral Diseases. 2014; 20:17–24.

12. Wu, Meng-Chi et al. Focal dermal hypoplasia: report of a Taiwanese case. Dermatologica Sinica, Volume 29, Issue 2, 59-62