{"title":"局灶性皮肤发育不全:沙特阿拉伯的罕见表现","authors":"Awadh Alamri, Mazin Al Jabri","doi":"10.1016/j.jdds.2015.11.004","DOIUrl":null,"url":null,"abstract":"<div><p>Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.</p></div>","PeriodicalId":43409,"journal":{"name":"Journal of Dermatology & Dermatologic Surgery-JDDS","volume":"20 1","pages":"Pages 82-86"},"PeriodicalIF":0.2000,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.jdds.2015.11.004","citationCount":"1","resultStr":"{\"title\":\"Focal dermal hypoplasia: Unusual presentation in Saudi Arabia\",\"authors\":\"Awadh Alamri, Mazin Al Jabri\",\"doi\":\"10.1016/j.jdds.2015.11.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.</p></div>\",\"PeriodicalId\":43409,\"journal\":{\"name\":\"Journal of Dermatology & Dermatologic Surgery-JDDS\",\"volume\":\"20 1\",\"pages\":\"Pages 82-86\"},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2016-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.jdds.2015.11.004\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Dermatology & Dermatologic Surgery-JDDS\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2352241015000602\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"DERMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Dermatology & Dermatologic Surgery-JDDS","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2352241015000602","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DERMATOLOGY","Score":null,"Total":0}
Focal dermal hypoplasia: Unusual presentation in Saudi Arabia
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.
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