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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.

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 study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.

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.