Encephalocraniocutaneous Lipomatosis Without Ocular Malformations

Abstract

Background: Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis.

Patient description: We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement.

Conclusion: Our patient suggests more variability in clinical features and a more complex genetic/embryonic etiology of encephalocraniocutaneous lipomatosis.

Keywords: diagnostic criteria; differential diagnosis; encephalocraniocutaneous lipomatosis; neurocutaneous syndrome.