Lisch Nodule

Lisch nodule—ophthalmologic marker of Neurofibroma 1

QJM ◽

10.1093/qjmed/hcz098 ◽

2019 ◽

Vol 112 (12) ◽

pp. 934-935

Author(s):

G Madhaw ◽

R Samanta ◽

S Kumari ◽

D M Radhakrishnan ◽

R Shree ◽

...

Keyword(s):

Lisch Nodule

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VON RECKLINGHAUSEN'S DISEASE

Journal of Nepal Medical Association ◽

10.31729/jnma.574 ◽

2004 ◽

Vol 43 (154) ◽

Author(s):

Salamat Khan ◽

A Chandra ◽

N Jain ◽

A Kumar ◽

I U Khan

Keyword(s):

Peripheral Nerve ◽

Autosomal Dominant ◽

Von Recklinghausen’S Disease ◽

Von Recklinghausen's Disease ◽

Autosomal Dominant Disorder ◽

Recklinghausen's Disease ◽

Peripheral Nerve Tumours ◽

Lisch Nodule ◽

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)

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