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 / 369 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 Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
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.
research Olmsted syndrome
This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
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