Hypotrichosis and recurrent skin vesicles

Definition:

Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the disease.

References:

[1]. Aimee S Payne, et al. No evidence of skin blisters with human desmocollin-3 gene mutation. Am J Hum Genet. 2010 Feb 12;86(2):292; author reply 292. [Content Brief]

[2]. Muhammad Ayub, et al. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet. 2009 Oct;85(4):515-20. [Content Brief]

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