Skin Manifestations Among GATA2-Deficient Patients

October 2017 in “ British Journal of Dermatology ”

Alice Polat, M. Dinulescu, Sylvie Fraïtag, Stanislas Nimubona, F. Toutain, S. Jouneau, Elsa Poullot, C. Droitcourt, Alain Dupuy

GATA2 deficiency lymphedema warts gingival hypertrophy macroglossitis glossitis granulomatous lupoid facial lesions skin cancers allogeneic hematopoietic stem cell transplantation swelling gum overgrowth large tongue tongue inflammation facial lesions stem cell transplant

TLDR Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

The article from 2017 discusses the dermatological symptoms of GATA2 deficiency in three patients, which included lymphedema, warts, gingival hypertrophy, macroglossitis, glossitis, and granulomatous lupoid facial lesions. These skin manifestations often preceded other symptoms and served as early indicators of the disorder. The study highlights the critical role of dermatologists in early diagnosis and management of GATA2 deficiency, as well as the importance of monitoring for potential skin cancers in these patients. The patients, aged 12 to 31, also exhibited various hematological signs and other clinical features, with treatments including allogeneic hematopoietic stem cell transplantation. The cases underscore the complex nature of GATA2 deficiency and its diverse effects on the skin, immune system, and overall health.