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.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

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.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene.
 

Author(s): Ji Young Choi, Song Ee Kim, Sang Eun Lee, Soo Chan Kim

Journal: Yonsei Med. J.. 2018 Mar;59(2):341-344.

 

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), ...

Last Updated: 31 Dec 1969

Go To URL
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

Go To URL
Semidominant Inheritance in Olmsted Syndrome.
 

Author(s): Xu Cao, Huijun Wang, Yanhong Li, Mingyang Lee, Liya Jiang, Yun Zhou, Cheng Feng, Zhimiao Lin, Yong Yang

Journal: J. Invest. Dermatol.. 2016 08;136(8):1722-5.

 

Last Updated: 31 Dec 1969

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.