Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement

Abstract

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare neurocutaneous condition first described by Haberland and Perou in 1970.1, 2, 3, 4, 5, 6, 7 Most ECCL patients present with characteristic lipomatous hamartomas with overlying alopecia in a unilateral distribution on the scalp and ipsilateral scleral lipoepidermoid cysts, excrescences of the eyelid, and notching of the eyelid.1, 2, 3, 5, 7, 8 The subcutaneous fatty mass with nonscarring alopecia seen in patients with ECCL is better known as a nevus psiloliparus and is the dermatologic hallmark of the condition.1, 4, 5, 6 Because of the nonprogressing nature of the lesions involved, most patients with ECCL live nearly normal lives with the exception of an increased chance of epileptic seizures, mild-to-moderate mental retardation, and motor impairment that all correlate with the presence of cerebral malformations or growths, such as intracranial lipomas, spinal lipomas, arachnoid cysts, atrophy of a hemisphere, porencephalic cysts, dilated ventricles, hydrocephalus, and calcifications.1, 2, 6, 7, 8 We report the case of a 13-month-old white boy that presented to our clinic with a 4- × 6-cm nevus psiloliparus extending bilaterally on his vertex scalp, bilateral dermoid tumors in his eyes, macrocephaly, and a possible arachnoid cyst. This case is unusual in the bilateral distribution of the nevus psiloliparus and the overall lack of corresponding anomalies that are commonly seen in ECCL.