Encephalocraniocutaneous lipomatosis
Louvet, S.; Léauté-Labreze, C.; Labbé, L.; Chateil, J.F.; Taieb, A.
Annales de Dermatologie et de Venereologie 124(8): 549-551
1997
ISSN/ISBN: 0151-9638 PMID: 9740851 Document Number: 472097
Encephalocraniocutaneous lipomatosis (ECL) involving the scalp and cerebellum was observed without asymptomatic expression. A seven-month-old infant presented with two soft subcutaneous hairless tumors of the scalp without any associated clinical anomaly. Neuroradiology explorations (radiography, CT-scan and MRI) showed a lipoma in the cerebellum linked with a occipital cutaneous lipoma through a bone defect. At the age of 3 years, the child remains healthy. ECL is a rare neurocutaneous disorder that consists of skin lipomas associated with various cerebral anomalies. ECL may occur as a circumscribed form of the Proteus syndrome, since a few ECL patients have associated manifestations of proteus syndrome as well as localized hypertrophy. However, minor forms of ECL are possible and may be compatible with normal life.