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    Glossary Olmsted 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 30 of 289

    1. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    2. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    3. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    4. Olmsted syndrome Journal of Dermatological Case Reports · 2013 · 2 citations
    5. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    6. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    7. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    8. Two familial cases of Olmsted-like syndrome with a G573V mutation of the<i>TRPV3</i>gene Clinical and experimental dermatology · 2016 · 12 citations
    9. 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 Journal of dermatological science · 2017 · 5 citations
    10. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    11. Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes Journal of Investigative Dermatology · 2017 · 77 citations
    12. 738 Cryo-EM and molecular dynamics of TRPV3 channel in activated state reveal structural features implicated in severe itch and hyperkeratosis 2023
    13. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    14. 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath 2019
    15. 892 Behavior of the two circulating androgens testosterone and DHEA and their main intracellular metabolites in an androgen-sensitive sebocyte cell line Journal of Investigative Dermatology · 2019
    16. Metabolic syndrome in alopecia areata: an observational study at a tertiary care center International Journal of Research in Dermatology · 2021 · 1 citations
    17. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    18. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    19. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    20. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    21. Comorbidities in alopecia areata: A systematic review and meta-analysis Journal of The American Academy of Dermatology · 2018 · 100 citations
    22. Hidradenitis Suppurativa Mayo Clinic Proceedings · 2015 · 27 citations
    23. Skin disease related to metabolic syndrome in women International journal of women’s dermatology · 2019 · 11 citations
    24. Skin Elsevier eBooks · 2011 · 2 citations
    25. Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity assessment and Comorbidities Revista da Sociedade Portuguesa de Dermatologia e Venereologia · 2018 · 1 citations
    26. When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma Indian Dermatology Online Journal · 2025
    27. Follicular Neutrophilic Inflammation (Hidradenitis Suppurativa) Springer eBooks · 2018
    28. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    29. Cutaneous manifestations of systemic infection in children Current problems in dermatology · 1993
    30. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023