/hereditary neurocutaneous angioma

hereditary neurocutaneous angioma

Rare Disease

MONDO:0007116

Also Known As

hereditary neurocutaneous angiomaangioma hereditary neurocutaneousangioma, hereditary neurocutaneoushemangiomatosis, disseminatedhereditary neurocutaneous malformationspinal arterial Venous malformations with cutaneous hemangiomas

Definition

Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant.