research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.
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5 / 9 resultsresearch A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
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.
research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
This review discusses the expanding understanding of TRPV3's role in pain and skin pathology, while highlighting the need for further pharmacological research to fully resolve its functions.
research Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine
This study found that the medication dyclonine has a potent inhibitory effect on the TRPV3 channel, effectively rescuing cell death and alleviating pruritus symptoms in a mouse model with gain-of-function TRPV3 mutations, suggesting potential for treating skin inflammation.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
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