PurposeHaemangiomas are common benign vascular tumours. The diagnosis is usually straight forward; however, rarely it may be difficult to distinguish from other tumours or vascular malformations.They are diagnosed clinically, but sometimes they can share characteristics with other benign or malignant, vascular or non-vascular lesions, and clinically the diagnosis can be challenging. The purpose of this study is to highlight rare but potentially serious differential diagnoses of haemangiomas.

MethodThis was a retrospective study where we reviewed our paediatric dermatology database in order to find patients referred to us with a diagnosis of haemangioma where the final diagnosis was different and in some cases serious and fatal.

Tumours masquerading as haemangiomas

Soft tissue tumours in infants masquerading as haemangiomasS. B. Syed1, L. Kontara1, A. Bassi1, J. Linward1, L. Solman1, M. Malone2, D. Dunaway3, M. Glover1, J. I. Harper1

1Department of Paediatric Dermatology, Great Ormond Street Children’s Hospital, London,UK 2Department of Paediatric Histopathology, Great Ormond Street Children’s Hospital, London, UK 3Department of Paediatric Maxillofacial Surgery , Great Ormond Street Children’s Hospital, London, UK

Acknowledgements: To all staff of the Paediatric Dermatology Department at GOSH and all the families involved.

Conclusions

It is important to be aware of the differential diagnoses of haemangiomas. Malignant tumours are usually hyper-vascular and can cause some confusion even with Doppler ultrasound examination.

The most important message is careful examination. Haemangiomas are usually soft and compressible; if the lump is hard on palpation or tethered to the adjacent tissue, a biopsy is mandatory. Treatment can then be focused on the actual diagnosis.

Results

Patient 2:

Pilomatrixoma

Patient 8:

Dermatofibrosarcoma protuberance

Patient 14:

EncephalocelePatient 15:

EctomesenchymomaPatient 16:

Kaposiform Hemangioendothelioma

Patient 19:

Sialoblastoma

Patient 9:

Malignant Rhabdoid TumourPatient 10:

Infantile AcnePatient 11:

LipoblastomaPatient 12:

Tufted Angioma

Patient 3:

RhabdomyosarcomaPatient 4:

Kaposiform Hemangioendothelioma

Patient 5:

Tuberous SclerosisPatient 6:

Congenital Alveolar Rhabdomyosarcoma

Patient 7:

Nasal Glioma

In a cohort of 500 patients, 19 patients were identified with the following diagnoses, confirmed by clinical examination, histopathology and radiological imaging: fibromyosarcoma; nasal glioma; tufted angioma; congenital alveolar rhabdomyosarcoma; arterio-venous malformation; kaposiform haemangioendothelioma (x2); ectomesenchymoma. sialoblastoma; encephalocele, rhabdomyosarcoma (X2); meningomyelocele; dermatofibrosarcoma protuberans; infantile acne; plexiform neuroma (NF1); pilomatrixoma; malignant rhabdoid tumour and lipoblastoma.

Case No. Sex Age at diagnosis Clinical Investigations Biopsy Diagnosis Treatment

1 F 14.5 years old Lesion on buttock present from birth MRI Brain: Low grade astrocytoma Diffuse and plexiform neurofibroma (right buttock lesion)

Neurofibrmatosis NF1- plexiform neurofibroma right buttock

Excision of the lesion

2 F 11 months oldLump right temple with multiple haemangiomas elsewhere

U/S: Subcutaneous oval mass- highly vascular Benign pilomatrixoma Pilomatrixoma Excision of the lesion

3 F 6 months old10 days before diagnosis a lump appeared over right posterior shoulder (7X4cm2 )

Heterogeneous mass in the region of the right infraspinatus muscle extending superiorly and laterally

Haemorrhagic malignant rhabdoid tumour- immunostaining for INI-1 negative

Malignant rhabdoid tumor(rhadbomyosarcoma)

Resection of the mass-Chemotherapy-Radiotherapy

4 M 4 days old Haemangioma on the right shoulder - increased in size rapidly (8x9cm2)

MRI : Large partly exophytic soft tissue mass centered on the right shoulder which appears to involve muscles possible extending to the right axillaCoagulation screen was completely derranged

Not done Kaposifopm haemangiothelioma associated with KMS

Embolisation of the feeder arteries- oral steroids and vincristine

5 F 22 months oldPresented at birth, lesion on the right face,complete closure of the right eye, two large areas on the right scalp with loss of hair

Genetic test pathogenic mutation in the TSC2 gene.Brain MRI:Typical bilateral findings of cortical tubers some of which are calcified and subependymal nodulesArteriogram cerebral :the appearances are suggestive of fibrous dysplasia with secondary hypervascularity

From lower eyelid and scalp:Fibrous infiltration- MTORS receptor markers positive on histology -chromosome array on the skin : no abdormalitiy

tuberous sclerosis – extensive involvementSodium valproate for seizures - Started on rapamicin

6 F 27 days oldPresented at birth with small lumps on head, legs and back. Gradually increasing in number

MRI: Extensive metastatic disease/ atypical leukemia picture

Congenital alveolar rhabdomyosarcoma Congenital alveolar rhabdomyosarcoma Radiotherapy attempted but fatal outcome

7 F 7 months old Well defined lump on the glabella from birth gradually increasing in size , hair growth on the lesion

MRI : the lesion in keeping with nasal glioma Glial cells (Heterotopia) Nasal glioma Excision of the lesion

8 F 3months oldLarge ulcerating soft tissue mass on the scalp from birth

MRI:appearance consistent with “haemangioma” suggest further evaluation U/S: very vascular lesion

Infantile myofibromatosis Juvenile myofibromatosis Embolization and lesion incompletely excised

9 F 2.5 months oldLesion on the left fronto- parietal area from birth increasing in size

MRI :Metastatic malignant tumour Right frontal tumour ::malignant rhabdoid tumour

Rhabdoid tumour with intracranial and extracranial component

Initially she had a biopsy; then excised with a full thickness skin graft and chemotherapy

10 M 18 months old Facial skin lesions clinically representing infantile acne N/A Not done Infantile Acne Erythromycin for 3months and Dalacin-C

11 M 6.5 months oldSubcutaneous lesion on the right temple area presenting at the age of 2months

MRI: large well encapsulated soft tissue mass on the right side of the head

Lipoblastoma

Vague lobular architecture, scattred fibrous septae, lobules of lipocytes, lipoblasts with multiple vacuoles, scalloped in indentecl nuclei and extensive myxoid change

Surgical excision of the lesion

12 F 44 days oldPresent from birth. Blemish lesion to the left cheek , periorbital area, rapidly developing erythema, painful to touch and presence of hair.

MRI:Signal abnormality extending into the preseptal inferior left orbital region

Irregular lobules with variable size blood vessels with small lumina, larger and dilated vessels outline. CD34 and SMA positive GLUT-1 :negative

Tufted Angioma Treated with prednisolone eight weeks and gradually tapered off.

13 M 11 months oldRed raised lesion on the left lumbo-sacral region noted soon after birth

MRI:Spinal dysraphism with a lumbo-sacral lipoma and tethering of the cord-lipomyelomeningocele associated with a low lying spinal cord

Not done lumbo-sacral lipomyelomeningocele Immobilization in a leg cast for 4-6weeks and then lengthening of the achilles tendon with physiotherapy

14 M 5 months oldTwo small red lesions back of mid-line scalp, tender to touch, tuft of dark hair - present from birth.

MRI and U/S: Vascular lesion Encephalocele Encephalocele Surgical excision of the lesion

15 F 2 months oldswelling of the left cheek and angle of the mouth with a bluish discolouration from birth

MRI: 3,5cm well defined soft tissue mass containing small foci of non enhancing haemorrhagic or proteinaceous cysts with thrombocytopenia

Unusual features in keeping with a variant of ectomesenchymoma

Ectomesenchymoma Surgical excision of the lesion

16 M 22 days oldFrom birth swelling of the right leg extending from mid thigh to just above the ankle

Thrombocytopenia, low fibrinogen consistent with Kasabach-Merritt phenomenon - MRI with gadolinium : no large feeding vessels .

Not done Kaposiform haemangio-endothelioma with symptoms of Kasabach-Merritt pnenomenon

Oral steroids and vincristine

17 F 10.5 years old Reddish macular skin lesion from the age of 6 weeks which rapidly progressed from the age of 10 years old.

CT scan of the head :mild hyperostosis of the right zygoma MRI with gadolinium: right facial AVM.

Numerous abnormal large muscular vessels within the dermis and the subcutis, organized thrombi basaloid proliferation, epidermal necrosis. (AVM)

Arteriovenous malformations of her right face

Embolization followed by resection of the arterio-venous malformation and reconstruction of the lower eyelid and cheek with a skin graft from the thigh.

18 M 3 months oldMassive reddish blue tongue from birth. difficulty with feeding and hypoglycaemia

Genetic diagnosis of Beckwith Wiederman syndrome confirmed

Not done Beckwith-Wiedermann syndrome . Conservative management

19 F 3 months old Swelling of the right cheek from birth MRI:enhancing solid mass lesion involving the right submadibular and buccal spaces

Abnormal salivary duct type structures, pleomorphic adenoma, primitive baseloid cells in infiltrated nests diagnostic of sialoblastoma

Sialoblastoma of the right cheek Surgical excision of the lesion Distribution of masqueraders in percentage of our patients

Malignant(non-vascular)

26% (5)

Benign32% (6)

OtherVascularTumours16% (3)

Miscellaneous26% (5)