Haberland syndrome E88.2

Rare neuroectodermal syndrome with unilateral lipomas of the capillitium and face, aplasia cutis congenita and epidermal nevi (nevus psiloliparius).

Other eye changes are microphthalmia and colobomas. In addition, cerebral changes such as agenesia of the corpus callosum, ventricular dilatation, cysts and calcifications as well as mental retardation and seizures.

1. Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22: 144-155
2. Rubegni P et al (2003) Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 28: 387-390