Pratiksha Sonkusale, S. Kar, Pooja Bonde, Komal Ramteke
{"title":"节段性神经纤维瘤病1例报告","authors":"Pratiksha Sonkusale, S. Kar, Pooja Bonde, Komal Ramteke","doi":"10.4103/jmgims.jmgims_63_17","DOIUrl":null,"url":null,"abstract":"Neurofibromatosis (NF) is a genetic disorder with an autosomal-dominant inheritance mainly affecting the growth of the cells of the neural tissues. Segmental NF (SNF), a rare variant of NF (NF type V), is characterized by café-au-lait macules and freckles or neurofibromas limited to one segment or one region of the body. A 26-year-old married female presented with asymptomatic café-au-lait macules and freckles involving the left cervical and thoracic region. The lesions did not cross the midline. Family history was not positive. There was no history of consanguineous marriage. There was no systemic involvement. We report this case as a rare entity of NF along with multidermatomal involvement.","PeriodicalId":32484,"journal":{"name":"Journal of Mahatma Gandhi Institute of Medical Sciences","volume":"25 1","pages":"113 - 115"},"PeriodicalIF":0.0000,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Segmental neurofibromatosis: A report of a rare case\",\"authors\":\"Pratiksha Sonkusale, S. Kar, Pooja Bonde, Komal Ramteke\",\"doi\":\"10.4103/jmgims.jmgims_63_17\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Neurofibromatosis (NF) is a genetic disorder with an autosomal-dominant inheritance mainly affecting the growth of the cells of the neural tissues. Segmental NF (SNF), a rare variant of NF (NF type V), is characterized by café-au-lait macules and freckles or neurofibromas limited to one segment or one region of the body. A 26-year-old married female presented with asymptomatic café-au-lait macules and freckles involving the left cervical and thoracic region. The lesions did not cross the midline. Family history was not positive. There was no history of consanguineous marriage. There was no systemic involvement. We report this case as a rare entity of NF along with multidermatomal involvement.\",\"PeriodicalId\":32484,\"journal\":{\"name\":\"Journal of Mahatma Gandhi Institute of Medical Sciences\",\"volume\":\"25 1\",\"pages\":\"113 - 115\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Mahatma Gandhi Institute of Medical Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jmgims.jmgims_63_17\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Mahatma Gandhi Institute of Medical Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jmgims.jmgims_63_17","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Segmental neurofibromatosis: A report of a rare case
Neurofibromatosis (NF) is a genetic disorder with an autosomal-dominant inheritance mainly affecting the growth of the cells of the neural tissues. Segmental NF (SNF), a rare variant of NF (NF type V), is characterized by café-au-lait macules and freckles or neurofibromas limited to one segment or one region of the body. A 26-year-old married female presented with asymptomatic café-au-lait macules and freckles involving the left cervical and thoracic region. The lesions did not cross the midline. Family history was not positive. There was no history of consanguineous marriage. There was no systemic involvement. We report this case as a rare entity of NF along with multidermatomal involvement.