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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Recommended Apps

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Olmsted syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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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 8 free, full-text research articles on human participants. First 3 results:

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):2879-83.

 

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):1752-4.

 

Last Updated: 14 May 2014

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Olmsted syndrome: exploration of the immunological phenotype.
 

Author(s): Dina Danso-Abeam, Jianguo Zhang, James Dooley, Kim A Staats, Lien Van Eyck, Thomas Van Brussel, Shari Zaman, Esther Hauben, Marc Van de Velde, Marie-Anne Morren, Marleen Renard, Christel Van Geet, Heidi Schaballie, Diether Lambrechts, Jinsheng Tao, Dean Franckaert, Stephanie Humblet-Baron, Isabelle Meyts, Adrian Liston

Journal:

 

Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation ...

Last Updated: 24 May 2013

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PubMed Article Results at NCBI: 8 article(s)

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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PubMed Review Results at NCBI: 1 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C2609071
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Olmsted syndrome" (open studies are recruiting volunteers) and 0 "Olmsted syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Olmsted syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More