Literature DB >> 25867571

Lisch and the Importance of His Nodules.

A Maharaj1, V Rs Singh1, S A Lalchan2.   

Abstract

Neurofibromatosis 1 is the commonest neurocutaneous autosomal dominant disorder with full penetrance, although expression may not be complete by the age of five years. Lisch nodules, however, are predominantly visible in children usually after the age of six years. Therefore, it is important to appreciate that their absence before this age does not pre-empt the diagnosis. A child being treated for hypertension of unknown aetiology with cafe au lait lesions presented to the ophthalmologist with blurred vision. Clinical examination revealed Lisch nodules which confirmed the suspicion of neurofibromatosis 1 as per National Institutes of Health criteria. The aim of this report is to highlight the importance of regular ophthalmic screening, both in suspected and confirmed cases, as these patients have long-term sequelae.

Entities:  

Year:  2014        PMID: 25867571      PMCID: PMC4668970          DOI: 10.7727/wimj.2013.323

Source DB:  PubMed          Journal:  West Indian Med J        ISSN: 0043-3144            Impact factor:   0.171


  24 in total

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3.  Reconstruction of skull base defects in sphenoid wing dysplasia associated with neurofibromatosis I with titanium mesh.

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5.  Lisch nodules of the iris in neurofibromatosis type 1.

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Journal:  J Eur Acad Dermatol Venereol       Date:  2004-05       Impact factor: 6.166

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Journal:  J Med Genet       Date:  2008-10-17       Impact factor: 6.318

7.  Neurofibromatosis type 1, recurrent pulmonary embolism, and a periampullary carcinoid tumor: is there a link?

Authors:  Basile Njei; Harold Sanchez
Journal:  Conn Med       Date:  2013-02

Review 8.  Neurofibromatosis type 2 (NF2): a clinical and molecular review.

Authors:  D Gareth R Evans
Journal:  Orphanet J Rare Dis       Date:  2009-06-19       Impact factor: 4.123

Review 9.  Neurofibromatosis type 1 revisited.

Authors:  Virginia C Williams; John Lucas; Michael A Babcock; David H Gutmann; Bruce Korf; Bernard L Maria
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124

10.  Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Authors:  Adila Alkindy; Nadia Chuzhanova; Usha Kini; David N Cooper; Meena Upadhyaya
Journal:  Hum Genomics       Date:  2012-08-13       Impact factor: 4.639

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