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Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

ABSTRACT: Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms - hypohidrotic and hidrotic. Clouston syndrome is a hidrotic ectodermal dysplasia characterized by a triad of generalized hypotrichosis, palmoplantar hyperkeratosis, and nail dystrophy. This paper reports a large Indian family with Clouston syndrome but with the absence of palmoplantar keratoderma, one of the features of the typical triad, thus representing phenotypic heterogeneity, in spite of the presence of a common known mutation in GJB6 gene (p.Gly11Arg).

SUBMITTER: Khatter S

PROVIDER: S-EPMC6440177 | biostudies-literature | 2019 Mar-Apr

REPOSITORIES: biostudies-literature

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Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Khatter Sangeeta S Puri Ratna Dua RD Mahay Sunita Bijarnia SB Bhai Pratibha P Saxena Renu R Verma Ishwar C IC

Indian journal of dermatology 20190301 2

Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms - hypohidrotic and hidrotic. Clouston syndrome is a hidrotic ectodermal dysplasia characterized by a triad of generalized hypotrichosis, palmoplantar hyperkeratosis, and nail dystrophy. This paper reports a large Indian family with Clouston syndrome but with the absence of palmoplantar keratoderma, one of the features of the typical triad, thus representing phenotypic ...[more]

PMID: 30983611

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