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October 2, 2025MedicineOpen Access

Juvenile xanthogranuloma as a potential early manifestation of neurofibromatosis type 1: A case report

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Authors

LLLingxi LiuSichuan UniversityCMChen MaoNorth Sichuan Medical University

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Implication

Case report reveals juvenile xanthogranuloma linked to neurofibromatosis type 1, indicating thorough evaluation.

Key Points

  • A diagnosis of juvenile xanthogranuloma linked to neurofibromatosis type 1 was established after examination.
  • During the assessment, 10 to 20 café-au-lait macules were identified, signaling a possible NF1 association.
  • Genetic testing confirmed an NF1 gene mutation, underscoring the importance of comprehensive evaluation.
  • Follow-up revealed one twin developed a biopsy-confirmed plexiform neurofibroma, suggesting monitoring is essential.

Cite This Study

Liu et al. (2025) studied this question.

synapsesocial.com/papers/68de79595b556a9128e1a215https://doi.org/10.1097/md.0000000000044223
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