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GlossaryOlmsted Syndrome

rare genetic disorder causing thickened skin on palms and soles

Olmsted Syndrome is a rare genetic disorder characterized by severe palmoplantar keratoderma (thickening of the skin on the palms and soles) and periorificial keratotic plaques (hardened skin around body openings like the mouth and eyes). It often leads to significant pain, restricted movement, and can be associated with other symptoms such as alopecia (hair loss) and nail abnormalities. The condition is typically caused by mutations in the TRPV3 gene.

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research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

56 citations , January 2014 in “Journal of Investigative Dermatology”

research Expanding The Phenotypic Spectrum Of Olmsted Syndrome

27 citations , June 2015 in “Journal of Investigative Dermatology”

TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.

research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

13 citations , January 2018 in “Yonsei Medical Journal”

A specific gene mutation causes Olmsted syndrome.

research Olmsted Syndrome: A Rare Keratinization Disorder

2 citations , June 2013 in “Journal of Dermatological Case Reports”

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Pathogenesis and Management of TRPV3-Related Olmsted Syndrome

research Pathogenesis and Management of TRPV3-Related Olmsted Syndrome

December 2024 in “Frontiers in Genetics”

EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.

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