JLE

European Journal of Dermatology

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Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings Volume 12, numéro 5, September - October 2002

Auteurs
Dept. of Dermatology, Gülhane Military Medical Academy, School of Medicine, 06018 Ankara, Turkey.
  • Page(s) : 428-31
  • Année de parution : 2002

Ehlers-Danlos syndrome type IV (EDS type IV) results from mutations in the COL3A1 gene, which encodes the chains of type III procollagen [1-3]. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture [3]. Essential clinical features include atrophy, dryness and wrinkling of skin, especially of the face and distal extremities, causing localized premature senility, and bruising. In addition, affected [...]