Abstract
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)
Highlights
Neurofibromatosis (NF) is an autosomal dominant disease[1] It is characterized by disordered growth of ectodermal tissues and is part of a group of disorders called Phakomatoses
Positive family history of NF1 was found in 71.2% and about 28.8% percent of cases arose as new mutations.[1]
The major disease features of this disorder are spots of increased skin pigmentation (CAL spots), peripheral nerve tumors and iris hamartoma (Lisch nodule). It may be associated with a variety of others dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels.[1]
Summary
Neurofibromatosis (NF) is an autosomal dominant disease[1] It is characterized by disordered growth of ectodermal tissues (nerve & skin) and is part of a group of disorders called Phakomatoses (neurocutaneous syndrome). Positive family history of NF1 was found in 71.2% and about 28.8% percent of cases arose as new mutations.[1] Once the change has occurred the mutant gene can pass in the succeeding generations.[4] The major disease features of this disorder are spots of increased skin pigmentation (CAL spots), peripheral nerve tumors (cutaneous neurofibromas) and iris hamartoma (Lisch nodule).
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