VON RECKLINGHAUSEN'S DISEASE

Von Recklinghausen's disease (VRD) is a rare genetic autosomal dominant disorder that affects the ectodermaltissues (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). Clinicaldiagnosis of VRD is based on the criteria given by National Institute of Health (NIH) because the mutationanalysis 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)