Clinical Challenge: Large hemangioma with abnormal brain MRI

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...

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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.

Diagnosis                       

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.

References

1. Bolognia J et al. Dermatology (2nd ed.). 2008. Mosby/Elsevier: St. Louis, Mo.

2. Haggstrom AN, Garzon MC, Baselga E et al. (2010). “Risk for PHACE syndrome in infants with large facial hemangiomas.” Pediatrics. 2010;126(2): e418-26.

3. Haggstrom AN, Lammer EJ. Schneider RA et al. “Patterns of infantile hemangiomasnew clues to hemangioma pathogenesis and embryonic facial development.” Pediatrics. 2006;117(3), 698-703.

4. Horii KA, Drolet BA, Frieden IJ, et al. “Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.” Pediatr Dermatol. 2011 May-Jun;28(3):245-53.

5. James W. Andrews’ Diseases of the skin : clinical dermatology. 11th ed. 2011; Saunders Elsevier: London.

6. Metry DW, Haggstrom AN, Drolet BA et al. “A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications.” Am J Med Genet A. 2006; 140(9):975-86.

7. Metry DW, Heyer G, Hess C et al. “Consensus Statement on Diagnostic Criteria for PHACE Syndrome.” Pediatrics. 2009; 124(5): 1447-1456.

8. Phung TL, Hochman M, Mihm MC. “Current knowledge of the pathogenesis of infantile hemangiomas.” Arch Facial Plast Surg. 2005;7(5):319-321.

9. Solomon T, Ninnis J, Deming D et al. “Use of propranolol for treatment of hemangiomas in PHACE syndrome.” J Perinatol. 2011; 31(11):739-741.

10. Paller A et al. Hurwitz Clinical Pediatric Dermatology: A Textbook of Skin Disorders and Adolescence. 2011; Elsevier Saunders: Philadelphia.