Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.
Clouston syndrome
gjb6
hidrotic ectodermal dysplasia
hypotrichosis
keratoderma
Journal
Indian journal of dermatology
ISSN: 1998-3611
Titre abrégé: Indian J Dermatol
Pays: India
ID NLM: 0370750
Informations de publication
Date de publication:
Historique:
entrez:
16
4
2019
pubmed:
16
4
2019
medline:
16
4
2019
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 30983611
doi: 10.4103/ijd.IJD_510_17
pii: IJD-64-143
pmc: PMC6440177
doi:
Types de publication
Case Reports
Langues
eng
Pagination
143-145Déclaration de conflit d'intérêts
There are no conflicts of interest.
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