L. Vujanović, M. Jovanović, Z. Golušin, Svetlana Kovačić Dukić, Sanja Jakovljević, Milos Nisavic
{"title":"遗传性大疱性表皮松解症——几代家族成员的一例报告","authors":"L. Vujanović, M. Jovanović, Z. Golušin, Svetlana Kovačić Dukić, Sanja Jakovljević, Milos Nisavic","doi":"10.2478/sjdv-2018-0003","DOIUrl":null,"url":null,"abstract":"Abstract Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.","PeriodicalId":30659,"journal":{"name":"Serbian Journal of Dermatology and Venereology","volume":"10 1","pages":"12 - 17"},"PeriodicalIF":0.0000,"publicationDate":"2018-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations\",\"authors\":\"L. Vujanović, M. Jovanović, Z. Golušin, Svetlana Kovačić Dukić, Sanja Jakovljević, Milos Nisavic\",\"doi\":\"10.2478/sjdv-2018-0003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.\",\"PeriodicalId\":30659,\"journal\":{\"name\":\"Serbian Journal of Dermatology and Venereology\",\"volume\":\"10 1\",\"pages\":\"12 - 17\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Serbian Journal of Dermatology and Venereology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2478/sjdv-2018-0003\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Serbian Journal of Dermatology and Venereology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/sjdv-2018-0003","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations
Abstract Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.
期刊介绍:
Serbian Journal of Dermatology and Venereology is a journal of the Serbian Association of Dermatologists and Venereologists. The journal is published in English, quarterly and intended to provide rapid publication of papers in the field of dermatology and venereology. Manuscripts are welcome from all countries in the following categories: editorials, original studies, review articles, professional articles, case reports, and history of medicine.