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This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

This study suggests that keratin 9 expression in nonpalmoplantar keratinocytes can be induced by signals from palmoplantar fibroblasts, potentially enabling the use of nonpalmoplantar epidermis to treat palmoplantar wounds.

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.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.