Open AccessVON RECKLINGHAUSEN'S DISEASE
Author(s) -
Sana Khan,
Alok Chandra,
Neal Jain,
Arun Kumar,
Imran Khan
Publication year - 2004
Publication title -
journal of nepal medical association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.176
H-Index - 19
eISSN - 1815-672X
pISSN - 0028-2715
DOI - 10.31729/jnma.574
Subject(s) - medicine , neurofibromatosis , café au lait spot , nodule (geology) , disease , genetic disorder , hamartoma , peripheral nerve , iris (biosensor) , dermatology , pathology , anatomy , paleontology , biology , computer security , computer science , biometrics
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)