Abstract
Segmental neurofibromatosis is a rare disease characterized by neurofibromas with or without café au lait spots localized to one segment of the body. The majority of reported cases have had cutaneous neurofibromas, and patients with deep involvement have rarely been described. We report on two patients with deep-seated segmental plexiform neurofibromatosis and review the literature. All reviewed cases including the present two had no café au lait spots, axillary freckling, Lisch nodules, family history or malignant progression of disease. Differential diagnoses from neuro-fibromatosis 1 (von Recklinghausen disease) and malignant peripheral nerve sheath tumor are important for genetic counseling and avoiding overtreatment.
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Received: 18 January 2000 Revision requested: 7 March 2000 Revision received: 12 April 2000 Accepted: 15 April 2000
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Ogose, A., Hotta, T., Imaizumi, S. et al. Deep-seated segmental neurofibromatosis without café au lait spots. Skeletal Radiol 29, 543–547 (2000). https://doi.org/10.1007/s002560000234
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DOI: https://doi.org/10.1007/s002560000234