Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

Pediatric Dermatology - Tập 32 Số 1 - 2015
Sune R. R. Jans1, Eckhard Schomerus2, Anette Bygum3,4
1Department of Pediatrics, Roskilde Hospital, Roskilde, Denmark
2Department of Pediatrics, Odense University Hospital, Odense, Denmark
3Department of Allergy Centre, Odense University Hospital, Odense, Denmark
4Department of Dermatology, Odense University Hospital, Odense, Denmark

Tóm tắt

AbstractAn association between juvenile xanthogranuloma (JXG), neurofibromatosis type 1 (NF1), and juvenile myelomonocytic leukemia (JMML) has been described in the literature but has only been documented in approximately 20 cases. We diagnosed a patient with NF1 at 25 months of age, before any cutaneous stigmata of this disease had appeared, because we decided to screen for the NF1 gene mutation because of his presentation with multiple JXGs and moderate macrocephaly (2.5 standard deviations) at 9 months of age and JMML diagnosed at 20 months of age. The child is well today after treatment with chemotherapy and allogenic bone marrow transplantation. With increased awareness, patients with JXG and NF1 who develop symptoms possibly related to JMML, such as paleness, skin bleeding, cough, unexplained fever, and hepatosplenomegaly, should be further evaluated. We also emphasize that multiple JXG lesions can be an early marker of NF1.

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Tài liệu tham khảo

Royer P, 1958, Xantholeukemia in infants & Recklinghausen's neurofibromatosis, Sem Hop, 34, 1504

10.1159/000017974

10.1097/01.mph.0000135282.39550.99

10.1111/j.1365-2141.2007.06958.x

10.1053/j.semdp.2011.08.007

10.1111/j.0736-8046.2004.21219.x

10.1038/leu.2008.162

10.1002/(SICI)1098-1004(1997)9:4<366::AID-HUMU12>3.0.CO;2-0

10.1182/blood.V92.1.267.413a31_267_272

Locatelli F, 1995, Myelodysplastic syndromes: the pediatric point of view, Haematologica, 80, 268

Zvulunov A, 1995, Juvenile xanthogranuloma, neurofibromatosis and juvenile chronic myelogenous leukemia. World statistical analysis, Arch Dermatol, 131, 904, 10.1001/archderm.1995.01690200040007

10.1001/jamadermatol.2013.6434

10.1111/j.0736-8046.2004.21201.x

10.1182/blood.V93.2.459

10.1001/archderm.132.11.1390

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Pediatric Dermatology

Tập 32 Số 1

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