{"title":"Van Lohuizen Syndrome: A Late-Diagnosed Case in 18 Years Old Female","authors":"Abdulrahim Aljayar, Moattaz Aljayar","doi":"10.46889/josr.2021.2306","DOIUrl":null,"url":null,"abstract":"Cutis Marmorata Telangiectatica Congenita is a very rare birth defect involving cutaneous blood vessels. Of unknown cause, uncertain pathophysiology, unclear epidemiology. Described as a localized, or generalized marbled skin appearance (cutis marmarota), in addition to the skin, it may involve any other body organs, with, or without a wide variety of associated congenital anomalies. Kato van Lohuizen described the first case in 1922. Since then, there have been less than 300 cases reported worldwide to date. We are adding one more case, and the first reported in Libya.","PeriodicalId":382112,"journal":{"name":"Journal of Orthopaedic Science and Research","volume":"14 3 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Orthopaedic Science and Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.46889/josr.2021.2306","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Cutis Marmorata Telangiectatica Congenita is a very rare birth defect involving cutaneous blood vessels. Of unknown cause, uncertain pathophysiology, unclear epidemiology. Described as a localized, or generalized marbled skin appearance (cutis marmarota), in addition to the skin, it may involve any other body organs, with, or without a wide variety of associated congenital anomalies. Kato van Lohuizen described the first case in 1922. Since then, there have been less than 300 cases reported worldwide to date. We are adding one more case, and the first reported in Libya.
先天性毛细血管扩张性皮肤是一种非常罕见的涉及皮肤血管的先天性缺陷。病因不明,病理生理不确定,流行病学不清楚。被描述为局部或全身大理石状皮肤外观(马尔马罗塔皮肤),除了皮肤外,它可能涉及任何其他身体器官,伴有或不伴有各种相关的先天性异常。Kato van Lohuizen在1922年描述了第一个病例。从那时起,迄今为止全世界报告的病例不到300例。我们又增加了一个病例,这是利比亚报告的第一个病例。