VON RECKLINGHAUSEN'S DISEASE

Authors

  • Salamat Khan Nepalgunj Teaching Hospital NGMC, Banke
  • A Chandra Nepalgunj Teaching Hospital NGMC, Banke, Nepal.
  • N Jain Nepalgunj Teaching Hospital NGMC, Banke, Nepal.
  • A Kumar Nepalgunj Teaching Hospital NGMC, Banke, Nepal.
  • I U Khan Nepalgunj Teaching Hospital NGMC, Banke, Nepal.

DOI:

https://doi.org/10.31729/jnma.574

Abstract

Von Recklinghausen's disease (VRD) is a rare genetic autosomal dominant disorder that affects the ectodermal
tissues (nerve and skin). The cardinal features of this disorder are spots of increase pigmentation (cafe-au-
lait spot, CAL), peripheral nerve tumours (neurofibromatosis) and iris hamartoma (Lisch nodule). Clinical
diagnosis of VRD is based on the criteria given by National Institute of Health (NIH) because the mutation
analysis is laborious. Here, we are reporting a case of a family with VRD.
Key Words: VonRecklinghausen's disease (VRD), Cafe-au-lait (CAL) spot, Lisch nodule,
Neurofibromatosis (NF)

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Published

2004-07-01

How to Cite

Khan, S., Chandra, A., Jain, N., Kumar, A., & Khan, I. U. (2004). VON RECKLINGHAUSEN’S DISEASE. Journal of Nepal Medical Association, 43(154). https://doi.org/10.31729/jnma.574

Issue

Vol. 43 No. 154 (2004)

Section

Case Reports

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