Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene.

Abstract

Ectodermal dysplasia-skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, palmoplantar hyperkeratosis, onichodystrophy, perioral fissuring and noncicatricial alopecia. It is caused by plakophilin-1 (PKP1) deficiency, which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case with a novel PKP1 mutation in intron 6.

• Authors: A Hernández-Martín, A Torrelo, S Ciria, I Colmenero, A Aguilar, R Grimalt, R González-Sarmiento
• Journal: Clinical and experimental dermatology (Clin Exp Dermatol) Vol. 38 Issue 7 Pg. 787-90 (Oct 2013) ISSN: 1365-2230 [Electronic] England
• PMID: 24073657 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 British Association of Dermatologists.

Chemical References

• Plakophilins

Topics

• Adolescent
• Ectodermal Dysplasia (genetics)
• Frameshift Mutation
• Humans
• Introns (genetics)
• Male
• Plakophilins (genetics)
• Skin Diseases, Genetic (genetics, pathology)