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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.

SUBMITTER: Muszynski MA 

PROVIDER: S-EPMC4134806 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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A woman with warts, leg swelling, and deafness.

Muszynski Melissa A MA   Zerbe Christa S CS   Holland Steven M SM   Kong Heidi H HH  

Journal of the American Academy of Dermatology 20140901 3


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 pr  ...[more]

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