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

doi:10.1111/j.1468-3083.2009.03263.x

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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...

Topics

Apoptosis Regulatory Proteins
Biopsy
Carrier Proteins
Central Nervous System Vascular Malformations
Humans
KRIT1 Protein
Membrane Proteins
Microtubule-Associated Proteins
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prevalence

Prospective Studies

Proto-Oncogene Proteins

Retrospective Studies

Skin

Skin Diseases, Vascular

Vascular Malformations

Source

Open in PubMed

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 30 Aug 2026.

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