title: A woman with warts, leg swelling, and deafness.
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.
authors.affiliation: Department of Dermatology, Medstar Washington Hospital Center and Georgetown University Hospital, Washington, DC.
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Muszynski
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
authors.forename: Christa S
authors.initials: CS
authors.lastname: Zerbe
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.affiliation: Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address: konghe@mail.nih.gov.
authors.forename: Heidi H
authors.initials: HH
authors.lastname: Kong
mesh_terms: D005260:Female; D050989:GATA2 Transcription Factor / Q000172:deficiency*; D006319:Hearing Loss, Sensorineural / Q000276:immunology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D008209:Lymphedema / Q000276:immunology*; D008875:Middle Aged; D014860:Warts / Q000276:immunology*
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human