A woman with warts, leg swelling, and deafness - 14/08/14
Abstract |
KEY TEACHING POINTS
• We describe a 45-year-old woman with GATA2 deficiency associated with verrucae, lymphedema, immunodeficiency, and a history of infections and skin cancer.
• GATA2 deficiency has variable clinical expressivity with differing presentations, including infection, hematopoietic abnormalities, immunodeficiency, lymphedema, and cancer.
• Cutaneous manifestations include verruca vulgaris, soft tissue infections, lymphedema, and panniculitis.
• Patients may have verrucae that can progress to squamous cell carcinomas; dermatologists therefore play an important role in managing these patients as members of a multidisciplinary team.
Le texte complet de cet article est disponible en PDF.Abbreviations used : DCML, MAC, MonoMAC, NIH
Plan
Supported by the Intramural Program of the National Institutes of Health, Center for Cancer Research, National Cancer Institute, and the National Institute of Allergy and Infectious Diseases. |
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Conflicts of interest: None declared. |
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Reprints not available from the authors. |
Vol 71 - N° 3
P. 577-580 - septembre 2014 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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