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
| 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.
| Conflicts of interest: None declared.
| Reprints not available from the authors.