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Olmsted syndrome: exploration of the immunological phenotype.

Abstract:

BACKGROUND: 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 of TRPV3 as a cause of the keratotic manifestations of Olmsted syndrome. METHODS: Genetic, clinical and immunological profiling was performed on a case study patient with the clinical diagnosis of O...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1186/1750-1172-8-79

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Sub department:
Kennedy Institute for Rheumatology
Role:
Author
Publisher:
BioMed Central Publisher's website
Journal:
Orphanet Journal of Rare Diseases Journal website
Volume:
8
Issue:
1
Pages:
79
Publication date:
2013-05-21
DOI:
EISSN:
1750-1172
ISSN:
1750-1172
Source identifiers:
565482
Language:
English
Keywords:
Pubs id:
pubs:565482
UUID:
uuid:2721825d-ba50-4a69-9ec6-ba25bf6628a9
Local pid:
pubs:565482
Deposit date:
2016-01-22

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