| Sumario: | Introduction: GATA 2 deficiency syndrome is an autosomal dominant genetic disease principally known as a bone marrow and immune system disorder. GATA-2 is a hematopoietic transcription factor; patients with this syndrome are prone to acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Case Presentation: Here we describe a teenage girl with GATA2 deficiency syndrome and pyoderma gangrenosum (PG) in the background of childhood myelodysplastic syndrome (cMDS) as a first presentation. Conclusions: In patients with sustained, unexplained skin lesions, especially with cytopenia, PG should be kept in mind. A bone marrow biopsy might help rule out hematologic disorders, including MDS. The MDS in children usually occurs in the context of hereditary disorders of bone marrow. Therefore, it seems wise to perform genetic testing in cMDS.
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