VON RECKLINGHAUSEN'S DISEASE
Keyword(s):
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)
1999 ◽
Vol 38
(1)
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pp. 119-120
2001 ◽
Vol 62
(6)
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pp. 1534-1537
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2013 ◽
Vol 6
(6)
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pp. 429-433
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1996 ◽
Vol 20
(7)
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pp. 889-897
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2009 ◽
Vol 56
(1,2)
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pp. 76-79
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