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Facial lymphoedema, viral warts, and myelodysplastic syndrome: the protean condition of GATA2 deficiency
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Facial lymphoedema, viral warts, and myelodysplastic syndrome: the protean condition of GATA2 deficiency
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Journal Article
Facial lymphoedema, viral warts, and myelodysplastic syndrome: the protean condition of GATA2 deficiency
2022
Overview
Histopathological analysis of samples of skin biopsies from the chin and lower eyelid showed superficial and deep perifollicular and periadenexal lymphocytic inflammation as well as ectatic blood vessels in the superficial dermis: indicative of the clinical diagnosis of rosacea. Notably, the patient had a family history of both myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML): his mother was diagnosed with MDS aged 27 years, AML aged 36 years, and she died aged 37 years; a maternal aunt was diagnosed with MDS aged 26 years and had an allogeneic transplant; his maternal grandmother was diagnosed with AML aged 24 and died one year later; and a maternal great aunt, who was diagnosed at an unknown age, with AML. Putting the findings together—monocytopenia, human papilloma viral infection, lymphoedema, and family history of myelodysplastic syndromes—we suspected the patient had GATA2 deficiency.
Publisher
Elsevier Ltd,Elsevier Limited
Subject
