RESUMO
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome that was characterized by unilateral, smooth, hairless fatty tissue nevi of the scalp, termed nevus psiloliparus, facial lesions, multiple anomalies involving the eye, and ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delays, and mental retardation. A 12-month-old boy was referred to our clinic for evaluation of non-scarring alopecia on the left side with an underlying fatty mass in the left parietal scalp and left-sided multiple periocular masses. It showed a large lipomatous mass on the scalp with overlying alopecia. Multiple skin tags and defects in the left periocular area were also observed. Additional ocular anomalies included epibulbar lipodermoid, iris coloboma, and localized peripapillary hypopigmentation lesions. After complete excision, the wound was covered with a local flap. The histologic examination revealed a mass surrounded by a well-developed capsule within the dermal layer, adipose tissue and connective tissue septa extending into the reticular dermis. No recurrence was observed at follow-up. It is essential to differentiate suspected ECCL from other syndromes which present with epibulbar chorisotomas. Neuroimaging, and pathological studies may be helpful for correct diagnosis. We will correct multiple periocular lesions in preschool age and follow up developmental problems like developmental delay and mental retardation constantly.