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Article

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2009

Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P

Abstract excerpt

BACKGROUND: Familial cerebral cavernous malformations (FCCM) are vascular malformations inherited as an autosomal-dominant condition. Three genes (KRIT1/CCM1, MGC4607/CCM2, PDCD10/CCM3) have been identified so far. Extra-neurological manifestations include retinal and cutaneous vascular malformations. The cutaneous vascular malformation, which had been more specifically associated with FCCM, is hyperkeratotic...

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Source

Identifiers

PMID: 19453802
DOI: 10.1111/j.1468-3083.2009.03263.x

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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