Open AccessMutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Author(s) -
Sangeeta Khatter,
Ratna Dua Puri,
Sunita Bijarnia-Mahay,
Pratibha Bhai,
Renu Saxena,
I. C. Verma
Publication year - 2019
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/ijd.ijd_510_17
Subject(s) - hypotrichosis , hypohidrotic ectodermal dysplasia , palmoplantar keratoderma , medicine , ectodermal dysplasia , keratoderma , hypodontia , phenotype , dermatology , hyperkeratosis , genetics , gene , biology , dentistry
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).