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In this study, the researchers introduced a mutation in mice to mimic Olmsted syndrome and found that the mutation caused hair loss due to impaired keratinocyte differentiation and depletion of hair follicle stem cells.

This study found that hair loss in an Olmsted syndrome mouse model with a Trpv3 mutation was linked to premature keratinocyte maturation, affecting hair follicle structure and function.

This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.

This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.

This study reported that gain-of-function mutations in TRPV3 lead to hair loss in mice by disrupting inner root sheath keratinocyte differentiation, ultimately causing follicular keratinocyte stem cell exhaustion and permanent follicle disruption.