Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation

This case report documents a 45-year-old Jordanian woman with Clouston syndrome, an autosomal-dominant ectodermal dysplasia characterized by nail dystrophy, generalized hypotrichosis (sparse hair), and palmoplantar hyperkeratosis. The patient presented with alopecia affecting the scalp, eyebrows, and eyelashes, nail dystrophy, but no palmoplantar keratoderma. Several family members also exhibited similar symptoms. Genetic testing identified a pathogenic heterozygous mutation in the GJB6 gene, specifically a single nucleotide alteration leading to a glycine to arginine substitution at position 11 in the connexin 30 protein. This mutation, p.G11R, is the most frequently reported mutation in Clouston syndrome across various ethnic populations. The report emphasizes the phenotypic variability of the syndrome, even within the same family, and suggests considering Clouston syndrome in patients with nail dystrophy and generalized hypotrichosis, especially when multiple family members are affected. Management for the patient is supportive, with no specific treatment available.