Clouston’s Syndrome: A Rare Case Report
August 2020
in “
International Journal of Research in Dermatology
”
TLDR Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
The document from 2020 reported a rare case of Clouston's syndrome, a genodermatoses characterized by nail dystrophy, alopecia, and palmoplantar hyperkeratosis. This condition is part of a group of disorders known as ectodermal dysplasias, which primarily affect hair, teeth, nails, and sweat glands, and occur in about seven per 10,000 births. Clouston's syndrome is caused by mutations in the GJB6 gene, which encodes the gap junction protein connexin 30. The case involved a 23-year-old male patient who presented with nail abnormalities, thickening of palmoplantar skin, anodontia of permanent dentition, and androgenic alopecia. As of the time of the report, there was no treatment for Clouston's syndrome, and management was purely supportive.
