Skin Manifestations Among GATA2-Deficient Patients

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.