search
for
 About Bioline  All Journals  Testimonials  Membership  News


Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323
EISSN: 0378-6323
Vol. 70, No. 6, 2004, pp. 360-362
Bioline Code: dv04124
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Dermatology, Venereology and Leprology, Vol. 70, No. 6, 2004, pp. 360-362

 en Case Report - Multi-segmental neurofibromatosis
Kumar Sudhir, Kumar RaviP

Abstract

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.

Keywords
Segmental neurofibromatosis, NF Type 5, Genetic mosaicism

 
© Copyright 2004 Indian Journal of Dermatology, Venereology, Leprology.
Alternative site location: http://www.ijdvl.com

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2024, Site last up-dated on 01-Sep-2022.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Google Cloud Platform, GCP, Brazil