Ectodermal dysplasia, Clouston type

Definition:

Ectodermal dysplasia, Clouston type, also known as Clouston syndrome, is an autosomal dominant disorder characterized by partial or total alopecia, nail dystrophy, hyperkeratosis of the palms and soles, and hyperpigmentation over the joints. Teeth are normal. Mutated connexin in the disease impairs formation of gap junction channels.

References:

[1]. J Lamartine, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4. [Content Brief]

[2]. M Priolo, et al. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001 Sep;38(9):579-85. [Content Brief]

[3]. 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]

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