Neurofibromatosis type 1 associated with Charcot-Marie-Tooth type 1A

Koc F., GÜZEL A. İ.

JOURNAL OF DERMATOLOGY, vol.36, no.5, pp.306-311, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 5
  • Publication Date: 2009
  • Doi Number: 10.1111/j.1346-8138.2009.00644.x
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.306-311
  • Keywords: Charcot-Marie-Tooth type 1A, duplication at chromosome 17p11, 2, neurofibromatosis type 1, SHORT TANDEM REPEATS, IA DUPLICATION, MUTATION-RATE, DIAGNOSIS, DISEASE, NF1
  • Recep Tayyip Erdoğan University Affiliated: No


Neurofibromatosis and Charcot-Marie-Tooth are genetic disorders of the nervous system affecting the development and growth of nerve cells and demyelination of peripheral neurons, respectively. We report a 22-year-old man who presented clinical manifestations of both neurofibromatosis type 1 (NF1) and Charcot-Marie-Tooth type 1A. The simultaneous occurrence of neurofibromatosis and Charcot-Marie-Tooth disease has rarely been reported. More extensive reports and further investigations of this combination will certainly provide a better understanding of this linkage in the near future.