Literature DB >> 31741938

Von Recklinghausen's Disease Presenting as Otolaryngologic Emergency: A Rare Occurrence.

Debangshu Ghosh1,2, Jayanta Saha3, Shaswati Sengupta1, Ajay Manickam4, Sumit Kumar Basu1.   

Abstract

Type 1 Neurofibromatosis (NF1) is a rare autosomal dominant genetic disorder. There are seven clinical features of which two are necessary to diagnose it. Another important feature is plexiform neurofibroma which commonly presents as painful expansile lesion. Here we present a case of NF1 with huge swelling of left hemiface and chin following trauma over pre-existing swelling and presented as life threatening emergency and managed surgically. © Association of Otolaryngologists of India 2017.

Entities:  

Keywords:  Café-au-lait spot; Neurofibromatosis type 1; Plexiform neurofibroma; Swelling; Trauma

Year:  2017        PMID: 31741938      PMCID: PMC6848417          DOI: 10.1007/s12070-017-1092-7

Source DB:  PubMed          Journal:  Indian J Otolaryngol Head Neck Surg        ISSN: 2231-3796


  7 in total

1.  Phase I trial of pegylated interferon-alpha-2b in young patients with plexiform neurofibromas.

Authors:  R I Jakacki; E Dombi; D M Potter; S Goldman; J C Allen; I F Pollack; B C Widemann
Journal:  Neurology       Date:  2011-01-18       Impact factor: 9.910

2.  Prevalence of neurofibromatosis 1 in German children at elementary school enrollment.

Authors:  Marga Lammert; Jan M Friedman; Lan Kluwe; Victor F Mautner
Journal:  Arch Dermatol       Date:  2005-01

3.  Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

Authors: 
Journal:  Arch Neurol       Date:  1988-05

4.  Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

Authors:  Carlos E Prada; Fatima A Rangwala; Lisa J Martin; Anne M Lovell; Howard M Saal; Elizabeth K Schorry; Robert J Hopkin
Journal:  J Pediatr       Date:  2011-10-11       Impact factor: 4.406

5.  Diagnostic outcome in children with multiple café au lait spots.

Authors:  B R Korf
Journal:  Pediatrics       Date:  1992-12       Impact factor: 7.124

6.  Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata.

Authors:  R A Lewis; V M Riccardi
Journal:  Ophthalmology       Date:  1981-04       Impact factor: 12.079

7.  Generalized metabolic bone disease in Neurofibromatosis type I.

Authors:  Nicola Brunetti-Pierri; Stephen B Doty; John Hicks; Kelly Phan; Roberto Mendoza-Londono; Maria Blazo; Alyssa Tran; Susan Carter; Richard Alan Lewis; Sharon E Plon; William A Phillips; E O'Brian Smith; Kenneth J Ellis; Brendan Lee
Journal:  Mol Genet Metab       Date:  2008-03-04       Impact factor: 4.797

  7 in total

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