Literature DB >> 23595180

A rare occurrence and management of familial schwannomatosis.

Ramesh G Reddy1, Vanaja Reddy Banda, Shankar Gunadal, Naveen Reddy Banda.   

Abstract

We are presenting a familial schwannomatosis without the features of neurofibromatosis (NF). We retrospectively reviewed the hospital charts, radiology films, operative notes and pathology slides of the patient. There was a family history of schwannomatosis. The patient had contrast-enhanced MRI, which was negative for vestibular schwannomas. The patient underwent surgical excision of symptomatic lesions. Histopathology confirmed these lesions as schwannomas consisting of areas of Antoni A and B, and immunohistochemical study was positive for S-100 protein. We recommend surgery for symptomatic lesions. Asymptomatic tumours can be monitored. Regular follow-up is essential as they may develop fresh lesions at any time. The relevant literature is discussed.

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Mesh:

Year:  2013        PMID: 23595180      PMCID: PMC3645446          DOI: 10.1136/bcr-2013-008843

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  6 in total

Review 1.  Diagnostic criteria for schwannomatosis.

Authors:  M MacCollin; E A Chiocca; D G Evans; J M Friedman; R Horvitz; D Jaramillo; M Lev; V F Mautner; M Niimura; S R Plotkin; C N Sang; A Stemmer-Rachamimov; E S Roach
Journal:  Neurology       Date:  2005-06-14       Impact factor: 9.910

2.  Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.

Authors:  L B Jacoby; D Jones; K Davis; D Kronn; M P Short; J Gusella; M MacCollin
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

3.  Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study.

Authors:  D G Evans; S Mason; S M Huson; M Ponder; A E Harding; T Strachan
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

4.  Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis.

Authors:  T Shishiba; M Niimura; F Ohtsuka; N Tsuru
Journal:  J Am Acad Dermatol       Date:  1984-05       Impact factor: 11.527

5.  Increasing the specificity of diagnostic criteria for schwannomatosis.

Authors:  Michael E Baser; J M Friedman; D Gareth R Evans
Journal:  Neurology       Date:  2006-03-14       Impact factor: 9.910

6.  Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity?

Authors:  S M Purcell; S L Dixon
Journal:  Arch Dermatol       Date:  1989-03
  6 in total

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