VON RECKLINGHAUSEN'S DISEASE

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)