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

An 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 st...

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Bibliographic Details
Published in:Pediatric dermatology 2015-01, Vol.32 (1), p.e29-e32
Main Authors: Jans, Sune R. R., Schomerus, Eckhard, Bygum, Anette
Format: Article
Language:English
Subjects:
Bone Marrow Transplantation
Drug Therapy
Early Diagnosis
Humans
Infant
Leukemia, Myelomonocytic, Juvenile - diagnosis
Leukemia, Myelomonocytic, Juvenile - therapy
Male
Mutation
Neurofibromatosis 1 - diagnosis
Neurofibromatosis 1 - genetics
Neurofibromatosis 1 - therapy
Neurofibromin 1 - genetics
Treatment Outcome
Xanthogranuloma, Juvenile - diagnosis
Xanthogranuloma, Juvenile - therapy
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Summary:An 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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.12478