Article
Olmsted syndrome: exploration of the immunological phenotype.
Orphanet journal of rare diseases - 21 May 2013
Danso-Abeam Dina, Zhang Jianguo, Dooley James, Staats Kim A, Van Eyck Lien, Van Brussel Thomas, Zaman Shari, Hauben Esther, Van de Velde Marc, Morren Marie-Anne, Renard Marleen, Van Geet Christel, Schaballie Heidi, Lambrechts Diether, Tao Jinsheng, Franckaert Dean, Humblet-Baron Stephanie, Meyts Isabelle, Liston Adrian
Abstract excerpt
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...
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