{"title":"Tumid lupus erythematosus in C1-inhibitor deficiency.","authors":"Sujoy Khan","doi":"10.1177/14782715241254872","DOIUrl":null,"url":null,"abstract":"<p><p>A case of a 28-year-old woman with known C1-inhibitor deficiency (functional, Type II) with persistent bilateral non-pruritic, mildly photosensitive facial rash for 10 months following delivery of her second child is presented. Histology of the skin was suggestive of tumid lupus erythematosus (LE), but no other features of systemic LE (ANA, dsDNA negative) were evident. She had stopped danazol which was controlling the underlying disease, and once this was restarted and treatment for tumid lupus was started, she improved. More rigorous control preventing all C1-inhibitor deficiency-related attacks proved successful. The hypothesis that uncontrolled classical pathway complement activation that led to the lupus-like skin lesions is being presented as a clinical case, highlighting the complex interrelationships between immunodeficiency and autoimmunity in inborn errors in immunity.</p>","PeriodicalId":46606,"journal":{"name":"Journal of the Royal College of Physicians of Edinburgh","volume":" ","pages":"159-160"},"PeriodicalIF":1.1000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Royal College of Physicians of Edinburgh","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/14782715241254872","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/16 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
A case of a 28-year-old woman with known C1-inhibitor deficiency (functional, Type II) with persistent bilateral non-pruritic, mildly photosensitive facial rash for 10 months following delivery of her second child is presented. Histology of the skin was suggestive of tumid lupus erythematosus (LE), but no other features of systemic LE (ANA, dsDNA negative) were evident. She had stopped danazol which was controlling the underlying disease, and once this was restarted and treatment for tumid lupus was started, she improved. More rigorous control preventing all C1-inhibitor deficiency-related attacks proved successful. The hypothesis that uncontrolled classical pathway complement activation that led to the lupus-like skin lesions is being presented as a clinical case, highlighting the complex interrelationships between immunodeficiency and autoimmunity in inborn errors in immunity.
期刊介绍：
The Journal of the Royal College of Physicians of Edinburgh (JRCPE) is the College’s quarterly, peer-reviewed journal, with an international circulation of 8,000. It has three main emphases – clinical medicine, education and medical history. The online JRCPE provides full access to the contents of the print journal and has a number of additional features including advance online publication of recently accepted papers, an online archive, online-only papers, online symposia abstracts, and a series of topic-specific supplements, primarily based on the College’s consensus conferences.
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