Olmsted syndrome

Common Name(s)

Olmsted syndrome, PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Olmsted syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Olmsted syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.
 

Author(s): Cheng Ni, Ming Yan, Jia Zhang, Ruhong Cheng, Jianying Liang, Dan Deng, Zhen Wang, Ming Li, Zhirong Yao

Journal:

 

Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two primary diagnostic hallmarks--mutilating palmoplanter and periorificial keratoderma. However, there's a growing body of literature reporting on the phenotypic diversity of OS, including the absence ...

Last Updated: 23 Feb 2016

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Expanding the Phenotypic Spectrum of Olmsted Syndrome.
 

Author(s): Neil J Wilson, Christian Cole, Leonard M Milstone, Ana E Kiszewski, C David Hansen, Edel A O'Toole, Mary E Schwartz, W H Irwin McLean, Frances J D Smith

Journal: J. Invest. Dermatol.. 2015 Nov;135(11):2879-2883.

 

Last Updated: 9 Nov 2015

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Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
 

Author(s): Ori Eytan, Dana Fuchs-Telem, Baruch Mevorach, Margarita Indelman, Reuven Bergman, Ofer Sarig, Ilan Goldberg, Noam Adir, Eli Sprecher

Journal: J. Invest. Dermatol.. 2014 Jun;134(6):1752-1754.

 

Last Updated: 14 May 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Olmsted syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Olmsted syndrome: clinical, molecular and therapeutic aspects.
 

Author(s): Sabine Duchatelet, Alain Hovnanian

Journal:

 

Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at ...

Last Updated: 18 Apr 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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