[Neurofibromatosis 1]

Brain Nerve. 2019 Apr;71(4):368-372. doi: 10.11477/mf.1416201278.
[Article in Japanese]

Abstract

A large number of genetic neurological disorders are accompanied by dermatological manifestations. Among them, neurofibromatosis 1 (NF1, Recklinghausen disease) is characterized by pigmented macules, such as café au lait macules, freckling and numerous neurofibromas. Neurological complications are also seen in NF1 and it is important to conduct appropriate imaging studies for a correct diagnosis. In this report, I will discuss the differential diagnosis of dermatological manifestations of NF1 compared to those of other neurological disorders, such as Legius syndrome or NF2.

MeSH terms

  • Cafe-au-Lait Spots / pathology
  • Diagnosis, Differential
  • Humans
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / pathology*
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / pathology