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 CASE REPORT
Year : 2004  |  Volume : 70  |  Issue : 6  |  Page : 361--363

Multi-segmental neurofibromatosis


Department of Neurological Sciences, Christian Medical College Hospital, Vellore, India

Correspondence Address:
Sudhir Kumar
Department of Neurological Sciences, Christian Medical College Hospital, Vellore, Tamil Nadu - 632004
India
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Source of Support: None, Conflict of Interest: None


PMID: 17642664

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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.






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Online since 15th March '04
Published by Wolters Kluwer - Medknow