Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report.

ABSTRACT:

Background

We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia (HED) with a variation in GJB6 (c.31G>A). The patients in the family had a triad of clinical manifestations of varying degrees. Although the same variation locus have been reported, the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder, palmoplantar keratosis, and congenital hypotrichosis.

Case summary

This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED. The proband (IV4) was a male patient with normal sweat gland function and dental development, no skeletal dysplasia, no cognitive disability, and no hearing impairments. His parents wer

SUBMITTER: Liao MY 

PROVIDER: S-EPMC10013106 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature