Diagnostic Considerations
It is important to realize the relationship of juvenile xanthogranuloma (JXG) with neurofibromatosis type 1 (NF1) and juvenile myelomonocytic leukemia (JMML). JXG can be the presenting sign of NF1. Up to 18% of patients with NF1 younger than 3 years also have JXG.
When JXG occurs with NF1 and JMML, the term "triple association" has been used. Individuals with NF1 and JXG have a 20- to 30- fold higher risk for JMML than individuals with NF1 who do not have JXG. Therefore, patients with JXG and NF1 should be screened for the development of JMML, a rare myelodysplastic and myeloproliferative disorder. Affected children with JMML display lymphadenopathy, anemia, thrombocytopenia, leukocytosis, and hepatosplenomegaly.
With proper diagnosis, enucleation can be avoided. In the past, many globes were enucleated, as the lesions were thought to be malignancies.
Differential Diagnoses
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Leukemia
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Medulloepithelioma
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Ophthalmologic Manifestations of Neurofibromatosis Type 1 (NF-1)
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Juvenile xanthogranuloma. Photograph of an 18-month-old presenting with a firm, nodular, tan-yellow lesion that has grown since first noticed 6 months ago. An examination under anesthesia did not reveal any ocular abnormalities. Excision of the lesion confirmed that this was a juvenile xanthogranuloma.
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Touton giant cell in juvenile xanthogranuloma. Touton giant cell with a wreath of nuclei surrounding a homogenous eosinophilic cytoplasmic center in juvenile xanthogranuloma. Touton cells are named after Karl Touton, who first described them in 1885. Touton giant cells are seen in xanthoma, juvenile and adult xanthogranulomas, dermatofibroma, and fat necrosis.
