Document Detail
Case Report - Multi-segmental neurofibromatosis
Abstract/OtherAbstract :
Neurofibromatosis (NF), one of the commonest phakomatoses, is characterized by varied clinical manifestations. Segmental NF is one of the uncommon subtypes of NF. We report a young adult presenting with asymptomatic skin lesions- neurofibromas and café-au-lait macules- over localized areas of the lower back, affecting more than one segment. None of the family members were found to have features of segmental NF. Segmental NF may be misdiagnosed as a birthmark or remain undiagnosed for long periods of time, as the patients are often asymptomatic. Moreover, the clinical features are highly variable and range from a small area of skin involvement to involvement over the entire half of the body. This variation is explained by the fact that segmental NF is thought to arise from a postzygotic NF1 gene mutation, leading to somatic mosaicism. We have also reviewed the relevant literature on this subject.
Authors :
Kumar Sudhir, Kumar RaviP
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Contributors :
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Publication Detail :
Publisher :  Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)     Type :  AA     Format :  html    
Date Detail :
2004-12-06
Subject :
Segmental neurofibromatosis, NF Type 5, Genetic mosaicism
Coverage :
Origin of publication: India
Relation :
http://www.ijdvl.com; http://www.bioline.org.br/dv
Source :
Indian Journal of Dermatology, Venereology and Leprology (ISSN: 0378-6323) Vol 70 Num 6
Copyright Information :
Copyright 2004 Indian Journal of Dermatology, Venereology, Leprology.
Other Details :
Languages :  en    
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