A woman with warts, leg swelling, and deafness.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25128101.
- Also identified by DOI 10.1016/j.jaad.2014.04.027 and PMC identifier 4134806.
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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.
Medical subject headings
- GATA2 Transcription Factor
- Hearing Loss, Sensorineural
- Immunologic Deficiency Syndromes
- Lymphedema
- Warts