TLDR A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
This case report describes a novel p.Val306Met missense mutation in the TRPV3 gene in a patient with Olmsted syndrome (OS), a rare congenital skin disorder. The patient exhibited severe palmoplantar keratoderma and developed squamous cell carcinoma on the right sole. This mutation expands the known phenotypic spectrum of TRPV3-related OS and highlights the importance of long-term monitoring for patients with this condition.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
105 citations
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May 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Activating TRPV3 stops human hair growth.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
25 citations
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March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
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May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
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