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Hereditary neurocutaneous malformation

Disease definition

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.

ORPHA:1062

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D18.0
  • OMIM: 106070
  • UMLS: C1275084
  • MeSH: C536364
  • GARD: 676
  • MedDRA: -

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