{"title":"女性克里斯-西门子-图兰综合征鼻蝇蛆病1例报告。","authors":"Leison Maharjan, Anju Shah, Dhirendra Yadav, Namita Shrestha","doi":"10.31729/jnma.8848","DOIUrl":null,"url":null,"abstract":"<p><p>Ectodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues. Hypohidrotic ectodermal dysplasia, also known as Christ-Siemens-Touraine syndrome is a type of ectodermal dysplasia characterized by a triad of anhidrosis, dysodontia, and hypotrichiasis. The most prevalent method of transmission is X-linked recessive, manifesting fully in men and only partially in female carrier heterozygotes. Atrophic rhinitis and nasal myiasis are rare characteristics of this condition. We hereby report a case of a 52-year-old female with atrophic rhinitis and nasal myiasis who was managed conservatively.</p>","PeriodicalId":520657,"journal":{"name":"JNMA; journal of the Nepal Medical Association","volume":"62 280","pages":"837-840"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930058/pdf/","citationCount":"0","resultStr":"{\"title\":\"Nasal Myiasis in a Female with Christ-Siemens-Touraine Syndrome: A Case Report.\",\"authors\":\"Leison Maharjan, Anju Shah, Dhirendra Yadav, Namita Shrestha\",\"doi\":\"10.31729/jnma.8848\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Ectodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues. Hypohidrotic ectodermal dysplasia, also known as Christ-Siemens-Touraine syndrome is a type of ectodermal dysplasia characterized by a triad of anhidrosis, dysodontia, and hypotrichiasis. The most prevalent method of transmission is X-linked recessive, manifesting fully in men and only partially in female carrier heterozygotes. Atrophic rhinitis and nasal myiasis are rare characteristics of this condition. We hereby report a case of a 52-year-old female with atrophic rhinitis and nasal myiasis who was managed conservatively.</p>\",\"PeriodicalId\":520657,\"journal\":{\"name\":\"JNMA; journal of the Nepal Medical Association\",\"volume\":\"62 280\",\"pages\":\"837-840\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930058/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JNMA; journal of the Nepal Medical Association\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31729/jnma.8848\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JNMA; journal of the Nepal Medical Association","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31729/jnma.8848","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/31 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Nasal Myiasis in a Female with Christ-Siemens-Touraine Syndrome: A Case Report.
Ectodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues. Hypohidrotic ectodermal dysplasia, also known as Christ-Siemens-Touraine syndrome is a type of ectodermal dysplasia characterized by a triad of anhidrosis, dysodontia, and hypotrichiasis. The most prevalent method of transmission is X-linked recessive, manifesting fully in men and only partially in female carrier heterozygotes. Atrophic rhinitis and nasal myiasis are rare characteristics of this condition. We hereby report a case of a 52-year-old female with atrophic rhinitis and nasal myiasis who was managed conservatively.
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