Abstract

An otherwise healthy man presented with alopecia, plantar keratoderma, and abnormal fingernails and toenails since childhood. He was diagnosed with hidrotic ectodermal dysplasia, or Clouston syndrome. Clouston syndrome is an autosomal dominant disorder caused by mutations in GJB6, which encodes the connexin 30 protein. Clinical features that are highly suggestive of Clouston syndrome include nail abnormalities, palmoplantar keratoderma, and alopecia, but these can vary in severity among affected individuals. Genetic testing may be offered for diagnosis confirmation and family planning. Management is based on symptomatic treatment for affected skin, hair, and nails.KeywordsHidrotic ectodermal dysplasiaClouston syndromeAlopeciaDystrophic nailsConnexin 30GJB6Palmoplantar keratodermaPachyonychia congenitaHypohidrotic ectodermal dysplasia

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