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Presentation of Acute Megakaryoblastic Leukemia Associated with a GATA ‐1 Mutation Mimicking the Eruption of Transient Myeloproliferative Disorder
Author(s) -
Boos Markus D.,
Wine Lee Lara,
Freedman Jason L.,
Novoa Roberto A.,
Chu Emily Y.,
Perman Marissa J.
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12643
Subject(s) - medicine , trisomy , acute megakaryoblastic leukemia , down syndrome , acute leukemia , pancytopenia , pediatrics , trisomy 8 , etiology , dermatology , leukemia , pathology , immunology , bone marrow , cytogenetics , genetics , psychiatry , gene , chromosome , biology
Children with trisomy 21 are prone to developing hematologic disorders, including transient myeloproliferative disorder ( TMD ) and acute megakaryoblastic leukemia ( AMKL ). The papulovesicular eruption of TMD provides an important clue to the diagnosis. In contrast, AMKL rarely has associated cutaneous findings. We report the case of a 22‐month‐old child with trisomy 21 who presented with the acute onset of diffusely scattered and crusted papules, plaques, and vesicles. A thorough infectious evaluation was negative and the patient was unresponsive to empiric antibiotic and antiinflammatory therapies. Complete blood count ( CBC ) was notable for mild pancytopenia, with a normal peripheral smear. Two weeks later he was reassessed and found to have a population of blasts on repeat CBC . Subsequent evaluation ultimately led to a diagnosis of AMKL . This is the first reported case of a cutaneous eruption in a young child with Down syndrome and transformed AMKL . When children with trisomy 21 present with the acute onset of crusted papules and vesicles that cannot be accounted for by an infectious etiology, a diagnosis of AMKL should be considered even in the absence of a history of TMD .