PHACES syndrome_0512 Derm Dx
A 2-month-old infant presents to the clinic with her parents. At birth she had a small pink patch on her forehead. However, by three weeks of age the pink patch began to proliferate and developed into a large red plaque covering her frontal scalp, forehead and the superior aspects of her face.
The supervising physician explains to you that this is an infantile hemangioma. Several studies are ordered, with the following findings:
- Magnetic resonance imaging (MRI) of the head and neck — Multiple enhancing lesions of the scalp and face consistent with hemangiomas; extensive hemangiomas around the right and left orbits with proptosis of the right globe; intracranial abnormalities include hypoplasia of the right cerebellar hemisphere; incomplete formation of the cerebellar vermis; and posterior fossa intracranial hemangioma.
- Magnetic resonance angiogram (MRA) of the head and neck — Diminutive posterior communicating artery
- Echocardiogram — Unremarkable
- Ophthalmologic examination — Unremarkable
What’s your diagnosis?
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PHACES syndrome is considered by some to be the most common neurocutaneous syndrome with over 300 reported cases. In PHACES syndrome, there is constellation of clinical findings associated with a large facial infantile hemangioma.
PHACES syndrome is an acronym that stands for:
- Posterior fossa malformations — Dandy-Walker malformation and cerebellar atrophy/hypoplasia
- Hemangioma — >5cm on face; plaque-like; segmental with occasional airway involvement
- Arterial anomalies — usually cerebrovascular, including aneurysms, anomalous branches, aberrancy, hypoplasia, stenosis, tortuosity and increased risk of stroke
- Cardiac anomalies — coarctation of the aorta, ventricular septal defect, other aortic arch anomalies
- Eye anomalies — retinal-vascular anomalies, microphthalmia, optic atrophy, cataracts and coloboma
- Sternal clefting/subpraumbilical raphe — other ventral midline developmental defects, hypopituitarism and ectopic thyroid
PHACES syndrome incidence is estimated to affect 19.7% to 31% of infants with large facial hemangiomas, with risk increasing with the size of the hemangioma.
Specific diagnostic guidelines are available in consensus statement from Metry et al published in Pediatrics.
In this case, the diagnosis was determined from the large facial infantile hemangioma, accompanied by hypoplasia of both the cerebellum and posterior communicating arteries.
Sturge-Weber syndrome, Klippel-Trenaunay syndrome and Parkes Weber syndrome are all associated with vascular malformations (i.e. port-wine stains), but not infantile hemangiomas.
Treatment and prognosis
Treatment is multidisciplinary and dependent on underlying abnormalities. Options for infantile hemangiomas include oral propranol, corticosteroids, vincristine, interferon-alpha, pulse-dye laser (PDL) and surgical excision.
This patient received a course of prednisolone at age 1.5 months. At 10 months, she started oral propranol, which was then tapered at 15 months. Her hemangioma involuted by 20 months. She has had minimal neurological sequelae.
Adam Rees, MD, is a graduate of the University of California Los Angeles School of Medicine and a resident in the Department of Dermatology at Baylor College of Medicine in Houston.
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