title: Vesiculopustular eruption associated with transient myeloproliferative disorder.
abstract: Transient myeloproliferative disorder (TMD) is a hematologic abnormality usually associated with Down syndrome that may present with a skin eruption in addition to typical systemic findings. We report a case of a patient with TMD and a vesiculopustular eruption without the phenotypic characteristics of Down syndrome who was found to have mosaic trisomy 21. Mutations of the globin transcription factor 1 gene, GATA1, are associated with both TMD and acute megakaryocytic leukemia. Transient myeloproliferative disorder typically presents with pancytopenia, hepatosplenomegaly, and immature circulating white blood cells, and affects approximately 10% of neonates with Down syndrome. These abnormalities rapidly regress within the first few months of life. However, 20% to 30% of neonates with Down syndrome and TMD later develop leukemia. The tumor antigen PRAME (preferentially expressed antigen in melanoma) may serve as a marker for leukemic transformation. We report an illustrative case to alert clinicians about this uncommon cause of vesiculopustular eruption in a neonate without the phenotypic characteristics of Down syndrome and review the clinical findings and laboratory studies that aid in accurate diagnosis.
authors.affiliation: Department of Dermatology, University at Buffalo, The State University of New York, 1036 Lakeview Terr #B, Grand Island, NY 14072, USA. erikadowns@hotmail.com
authors.forename: Erika
authors.initials: E
authors.lastname: Nornhold
authors.forename: Anna
authors.initials: A
authors.lastname: Li
authors.forename: Ilene L
authors.initials: IL
authors.lastname: Rothman
authors.forename: Satyan
authors.initials: S
authors.lastname: Lakshminrusimha
authors.forename: Thomas N
authors.initials: TN
authors.lastname: Helm
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009196:Myeloproliferative Disorders / Q000150:complications* / Q000235:genetics; D012872:Skin Diseases, Vesiculobullous / Q000209:etiology* / Q000473:pathology