Encephalocraniocutaneous lipomatosis: A rare neurocutaneous disorder

Abstract

A 5-year-old boy presented with the left eye epibulbar choristomas, upper lid coloboma, small periocular papules, and lipomatous swelling in the frontoparietal area with patchy alopecia on the left parietal side of the scalp. Neuroimaging showed left-sided cerebral hemiatrophy and ex vacuo dilation of the ventricle. The case was diagnosed as a case of encephalocraniocutaneolipomatosis based on the Moog's criteria. On follow-up after 4 years, the clinical features remained the same with no other systemic issues.

Keywords

• dermoid with alopecia
• encephalocraniocutaneous lipomatosis
• goldenhar syndrome
• haberland's syndrome