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Hereditary neurocutaneous angioma

Orpha number	ORPHA1062
Synonym(s)	-
Prevalence	<1 / 1 000 000
Inheritance	Autosomal dominant
Age of onset	Childhood

ICD-10	D18.0
OMIM	106070
UMLS	C1275084
MeSH	C536364
MedDRA	-
SNOMED CT	403775003

Summary

Hereditary neurocutaneous angioma is characterised 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 haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.

Last update: September 2006

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