{"title":"马尔马罗塔毛细血管扩张性先天性皮肤1例报告及文献复习","authors":"Naveen Manohar","doi":"10.23880/cdoaj-16000288","DOIUrl":null,"url":null,"abstract":"Cutis marmorata telangiectatic congenita (CMTC) is a very rare congenital disorder that is characterized by vascular reticulated and fixed patterns on the skin along with discrepancies in limb length. It was first described by Van Louhizen in 1922 and is also called the Lohuizen syndrome. Approximately only 300 cases have been reported till date. It can mimic several congenital disorders, such as Adams–Oliver syndrome (AOS), Bockenheimer’s syndrome, Divry van Bogeart syndrome, Klippel– Trinaunay syndrome, livedo recemosa, M-CMTC syndrome, and reticular haemangioma syndrome. Furthermore, recognizing it is critical since it can affect several organ systems, although rarely. While histopathological and genetic abnormalities have been reported, CMTC is predominantly a clinical diagnosis due to its unclear pathogenesis. Herein, we present the case of a 6-month-old child who was diagnosed with CMTC.","PeriodicalId":164845,"journal":{"name":"Clinical Dermatology Open Access Journal","volume":"27 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cutis Marmarota Telangiectatic Congenita: A Case Report and Review of Literature\",\"authors\":\"Naveen Manohar\",\"doi\":\"10.23880/cdoaj-16000288\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Cutis marmorata telangiectatic congenita (CMTC) is a very rare congenital disorder that is characterized by vascular reticulated and fixed patterns on the skin along with discrepancies in limb length. It was first described by Van Louhizen in 1922 and is also called the Lohuizen syndrome. Approximately only 300 cases have been reported till date. It can mimic several congenital disorders, such as Adams–Oliver syndrome (AOS), Bockenheimer’s syndrome, Divry van Bogeart syndrome, Klippel– Trinaunay syndrome, livedo recemosa, M-CMTC syndrome, and reticular haemangioma syndrome. Furthermore, recognizing it is critical since it can affect several organ systems, although rarely. While histopathological and genetic abnormalities have been reported, CMTC is predominantly a clinical diagnosis due to its unclear pathogenesis. Herein, we present the case of a 6-month-old child who was diagnosed with CMTC.\",\"PeriodicalId\":164845,\"journal\":{\"name\":\"Clinical Dermatology Open Access Journal\",\"volume\":\"27 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\":\"Clinical Dermatology Open Access Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.23880/cdoaj-16000288\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Dermatology Open Access Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.23880/cdoaj-16000288","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
先天性毛细血管扩张性皮肤(CMTC)是一种非常罕见的先天性疾病,其特征是皮肤上的血管网状和固定模式以及肢体长度差异。Van Louhizen于1922年首次描述了它,也被称为Lohuizen综合征。迄今为止,大约只报告了300例病例。它可以模拟几种先天性疾病,如Adams-Oliver综合征(AOS)、Bockenheimer综合征、Divry van Bogeart综合征、Klippel - Trinaunay综合征、livedo recemosa、M-CMTC综合征和网状血管瘤综合征。此外,认识到它是至关重要的,因为它可以影响几个器官系统,尽管很少。虽然有组织病理学和遗传异常的报道,但由于其发病机制尚不清楚,CMTC主要是临床诊断。在此,我们提出一个6个月大的孩子谁被诊断为CMTC的情况。
Cutis Marmarota Telangiectatic Congenita: A Case Report and Review of Literature
Cutis marmorata telangiectatic congenita (CMTC) is a very rare congenital disorder that is characterized by vascular reticulated and fixed patterns on the skin along with discrepancies in limb length. It was first described by Van Louhizen in 1922 and is also called the Lohuizen syndrome. Approximately only 300 cases have been reported till date. It can mimic several congenital disorders, such as Adams–Oliver syndrome (AOS), Bockenheimer’s syndrome, Divry van Bogeart syndrome, Klippel– Trinaunay syndrome, livedo recemosa, M-CMTC syndrome, and reticular haemangioma syndrome. Furthermore, recognizing it is critical since it can affect several organ systems, although rarely. While histopathological and genetic abnormalities have been reported, CMTC is predominantly a clinical diagnosis due to its unclear pathogenesis. Herein, we present the case of a 6-month-old child who was diagnosed with CMTC.