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

TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.
 

Author(s): Manoj Yadav, Chandan Goswami

Journal: Channels (Austin). 2017 May;11(3):196-208.

 

TRPV3 is a non-selective cationic channel and is important for several physiological functions. It can be activated by physiological temperature and selective endogenous and exogenous compounds. TRPV3 is one of the key ion channel involved in Ca-signaling in keratinocyte and thus ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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PubMed Article Results at NCBI: 10 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: 31 Dec 1969

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PubMed Review Results at NCBI: 1 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
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Full Results at Genetics Home Reference: 1674 matches

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