Pyoderma Gangrenosum as the First Sign of GATA2-Deficiency Associated Childhood Myelodysplastic Syndrome, Case Report and Review of Literature.
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). C...
| Publicado en: | Innovative Journal of Pediatrics Vol. 35; no. 5; pp. 1 - 7 |
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| Autores principales: | , , , , |
| Formato: | Journal Article |
| Publicado: |
Brieflands
2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=190279223&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 190279223 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 29501709 NTLU jtl: Innovative Journal of Pediatrics issn: 29501709 maglogo: N pubinfo: dt: 2025 vid: 35 iid: 5 pid: 69510 pub: Brieflands place: , <Blank> artinfo: ui: 190279223 10.5812/ijpediatr-162877 190279223 ppf: 1 ppct: 6 formats: tig: atl: Pyoderma Gangrenosum as the First Sign of GATA2-Deficiency Associated Childhood Myelodysplastic Syndrome, Case Report and Review of Literature. aug: au: Safavi, Moienadin Naderi, Zahra Sharari, Alieh Safari Parvaneh, Nima Naderi, Fatemeh affil: Molecular Genetic Pathology Lab, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran sug: ab: 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. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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