Mutation-proved Clouston syndrome in a large Indian family with a variant phenotype
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...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2019-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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). |
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| Item Description: | 0019-5154 1998-3611 10.4103/ijd.IJD_510_17 |