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In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.

In this case report, a 6-year-old boy with hidrotic ectodermal dysplasia 2 caused by GJB6 mutations showed no significant hair improvement with age, despite treatment with botanical extracts and Minoxidil.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.