Two Familial Cases of Olmsted-Like Syndrome with a G573V Mutation of the TRPV3 Gene
June 2016
in “
Clinical and experimental dermatology
”
TLDR A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
The document reported two familial cases of Olmsted-like syndrome (OS) in a Mongolian family, caused by a previously undescribed G573V point mutation in the TRPV3 gene. OS is characterized by hyperkeratotic plaques on the palms and soles, diffuse alopecia, and other keratotic manifestations. The study highlighted that mutations in the G573 residue of TRPV3 had been previously identified in seven cases of OS, with different mutations (G573S, G573C, and G573A). This finding added to the understanding of the genetic basis of OS and its familial inheritance patterns.
