Deep-seated segmental neurofibromatosis without café au lait spots

Skeletal Radiol. 2000 Sep;29(9):543-7. doi: 10.1007/s002560000234.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Cafe-au-Lait Spots / pathology*
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurofibromatoses / diagnosis*
  • Peripheral Nervous System Neoplasms / diagnosis*
  • Tomography, X-Ray Computed