Olmsted syndrome: exploration of the immunological phenotype

Orphanet Journal of Rare Diseases

Adrian Liston⁶  Isabelle Meyts⁶  Stephanie Humblet-Baron⁶  Dean Franckaert⁶  Jinsheng Tao⁵  Diether Lambrechts⁴  Heidi Schaballie¹  Christel Van Geet⁸  Marleen Renard⁸  Marie-Anne Morren²  Marc Van de Velde⁷  Esther Hauben³  Shari Zaman⁶  Thomas Van Brussel⁴  Lien Van Eyck⁶  Kim A Staats⁶  James Dooley⁶  Jianguo Zhang⁵  Dina Danso-Abeam⁶ 

[1] Pediatrics, Faculty of Medicine, University Hospital Leuven, Leuven, Belgium;Dermatology, Faculty of Medicine, University Hospital Leuven, Leuven, Belgium;Pathology, Faculty of Medicine, University Hospital Leuven, Leuven, Belgium;Laboratory of Translational Genetics, Vesalius Research Center, VIB and University of Leuven, Leuven, Belgium;BGI-Shenzhen, Shenzhen, China;Department of Microbiology and Immunology, University of Leuven, 3000, Leuven, Belgium;Anesthesiology, Faculty of Medicine, University Hospital Leuven, Leuven, Belgium;Pediatric Hemato-Oncology, Faculty of Medicine, University Hospital Leuven, Leuven, Belgium

关键词: Follicular T cell;    Eosinophil;    IgE;    TRPV3;    Olmsted syndrome;   

Others  :  863738
DOI  :  10.1186/1750-1172-8-79

 received in 2013-04-05, accepted in 2013-05-08,  发布年份 2013

【 摘 要 】

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 Olmsted syndrome.

Results

The patient was found to harbour a previously undescribed 1718G-C transversion in TRPV3, causing a G573A point mutation. In depth clinical and immunological analysis found multiple indicators of immune dysregulation, including frequent dermal infections, inflammatory infiltrate in the affected skin, hyper IgE production and elevated follicular T cells and eosinophils in the peripheral blood.

Conclusions

These results provide the first comprehensive assessment of the immunological features of Olmsted syndrome. The systemic phenotype of hyper IgE and persistent eosinophilia suggest a primary or secondary role of immunological processes in the pathogenesis of Olmsted syndrome, and have important clinical consequences with regard to the treatment of Olmsted syndrome patients.

【 授权许可】

   
2013 Danso-Abeam et al.; licensee BioMed Central Ltd.

【 图 表 】

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