{"title":"A case of Conradi-Hünermann-Happle syndrome treated with topical simvastatin-cholesterol ointment.","authors":"Jean Zevallos, Stephanie Susano","doi":"10.1111/pde.15739","DOIUrl":null,"url":null,"abstract":"<p><p>Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy. The purpose of this case report is to present a case of a patient treated with simvastatin-cholesterol ointment.</p>","PeriodicalId":19819,"journal":{"name":"Pediatric Dermatology","volume":" ","pages":"208-209"},"PeriodicalIF":1.2000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Dermatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/pde.15739","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/21 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy. The purpose of this case report is to present a case of a patient treated with simvastatin-cholesterol ointment.
期刊介绍：
Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
