Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate
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....
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2023-01-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/a-2015-1080 |
| _version_ | 1797903570427707392 |
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| author | Emily E. Clark Mollie Walton Lionel M.L. Chow J Todd Boyd M David Yohannan Shreyas Arya |
| author_facet | Emily E. Clark Mollie Walton Lionel M.L. Chow J Todd Boyd M David Yohannan Shreyas Arya |
| author_sort | Emily E. Clark |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T09:35:03Z |
| format | Article |
| id | doaj.art-23d3fd5a7ec942eebfc4d65255a75c31 |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-04-10T09:35:03Z |
| publishDate | 2023-01-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-23d3fd5a7ec942eebfc4d65255a75c312023-02-17T23:51:10ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052023-01-011301e5e1010.1055/a-2015-1080Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a NeonateEmily E. Clark0Mollie Walton1Lionel M.L. Chow2J Todd Boyd3M David Yohannan4Shreyas Arya5Department of Neonatology, Dayton Children's Hospital, Dayton, OhioDepartment of Pediatric Cardiology, Children's Mercy Kansas City, Overland Park, KansasDepartment of Pediatric Hematology/Oncology, Wright State University Boonshoft School of Medicine and Dayton Children's Hospital, Dayton, OhioDepartment of Pathology and Laboratory Medicine, Wright State University Boonshoft School of Medicine and Dayton Children's Hospital, Dayton, OhioDepartment of Neonatology, Dayton Children's Hospital, Dayton, OhioDepartment of Neonatology, Dayton Children's Hospital, Dayton, OhioJuvenile 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.http://www.thieme-connect.de/DOI/DOI?10.1055/a-2015-1080juvenile xanthogranulomajxgmyh9-flt3 fusionblueberry muffin rashneonate |
| spellingShingle | Emily E. Clark Mollie Walton Lionel M.L. Chow J Todd Boyd M David Yohannan Shreyas Arya Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate American Journal of Perinatology Reports juvenile xanthogranuloma jxg myh9-flt3 fusion blueberry muffin rash neonate |
| title | Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate |
| title_full | Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate |
| title_fullStr | Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate |
| title_full_unstemmed | Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate |
| title_short | Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate |
| title_sort | disseminated juvenile xanthogranuloma with a novel myh9 flt3 fusion presenting as a blueberry muffin rash in a neonate |
| topic | juvenile xanthogranuloma jxg myh9-flt3 fusion blueberry muffin rash neonate |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/a-2015-1080 |
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