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This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.

In this study, TRPV3G568V mice exhibited periodic hair loss and immune cell infiltration in the dermis, without affecting hair follicle stem cell fate, suggesting a focus on dermal immune cells for future research.

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 a gain-of-function mutation in the TRPV3 channel leads to altered hair development in DS-Nh mice by affecting the anagen and telogen phases, highlighting TRPV3's role in hair growth regulation.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.