Ectodermal dysplasia/skin fragility syndrome

Definition:

Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This condition is caused by mutations in PKP1, a desmosomal plaque-associated protein.

References:

[1]. J A McGrath, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997 Oct;17(2):240-4. [Content Brief]

[2]. Manuela Priolo, et al. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009 Sep;149A(9):2003-13. [Content Brief]

[3]. Sibel Ersoy-Evans, et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol. 2006 Jul;55(1):157-61. [Content Brief]

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