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CC BY-NC-ND 4.0 · AJP Rep 2023; 13(01): e5-e10
DOI: 10.1055/a-2015-1080
Case Report

Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate

Emily E. Clark
1   Department of Neonatology, Dayton Children's Hospital, Dayton, Ohio
,
Mollie Walton
2   Department of Pediatric Cardiology, Children's Mercy Kansas City, Overland Park, Kansas
,
Lionel M.L. Chow
3   Department of Pediatric Hematology/Oncology, Wright State University Boonshoft School of Medicine and Dayton Children's Hospital, Dayton, Ohio
,
J Todd Boyd
4   Department of Pathology and Laboratory Medicine, Wright State University Boonshoft School of Medicine and Dayton Children's Hospital, Dayton, Ohio
,
M David Yohannan
1   Department of Neonatology, Dayton Children's Hospital, Dayton, Ohio
5   Department of Neonatal-Perinatal Medicine, Wright State University Boonshoft School of Medicine and Dayton Children's Hospital, Dayton, Ohio
,
Shreyas Arya 
1   Department of Neonatology, Dayton Children's Hospital, Dayton, Ohio
5   Department of Neonatal-Perinatal Medicine, Wright State University Boonshoft School of Medicine and Dayton Children's Hospital, Dayton, Ohio
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Abstract

Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm–2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received multiple platelet transfusions in the first few weeks with gradual improvement in thrombocytopenia. Ultimately, a biopsy of one of the lesions revealed the diagnosis of disseminated JXG with notable atypical features. Somatic mutation analysis showed a novel MYH9-FLT3 fusion, but a bone marrow biopsy was negative. The lesions faded over time, relative to patient's growth and normal neurodevelopment was noted at 18 months of age. JXG should be considered in the differentials of blueberry muffin rash in an infant. Although, JXG is mostly a self-limited condition, congenital disseminated JXG may be associated with significant morbidity and mortality.

Keywords

juvenile xanthogranuloma - JXG - MYH9-FLT3 fusion - blueberry muffin rash - neonate


Publication History

Received: 13 December 2022

Accepted: 19 December 2022

Accepted Manuscript online:
18 January 2023

Article published online:
17 February 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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