39 citations,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
September 2022 in “Indian Journal of Paediatric Dermatology” This study reports on Clouston syndrome, a rare genetic condition, in a Malaysian-Chinese family across six generations. The condition, characterized by alopecia, nail dystrophy, and palmoplantar keratoderma, was confirmed through genetic testing to be caused by a heterozygous mutation c.263C>T (A88V) in the GJB6 gene. The study highlights the autosomal dominant inheritance pattern and the importance of genetic counseling, as no treatment is currently available. The findings contribute to the understanding of genotype-phenotype correlations in Clouston syndrome.
August 2020 in “International Journal of Research in Dermatology” 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.
20 citations,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.