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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 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.

research Hypotrichosis in a Child with Olmsted Syndrome

January 2018 in “Indian Dermatology Online Journal”

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

research 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

5 citations, May 2017 in “Journal of dermatological science”

The combined treatment effectively managed severe skin issues in Olmsted syndrome.

research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies

October 2023 in “Journal of dermatological science”

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

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