Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations

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.