Achia Nemet, Itai Hacker, Chani Topf-Olivestone, Ran Svirsky, Joseph Pikkel, Michael Kinori
{"title":"Wilson's Disease and Nevus of Ota in a Child: A Case Report.","authors":"Achia Nemet, Itai Hacker, Chani Topf-Olivestone, Ran Svirsky, Joseph Pikkel, Michael Kinori","doi":"10.1159/000541119","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Wilson's disease is a rare autosomal recessive disorder that disrupts copper metabolism. It presents with distinctive ocular manifestations. Oculodermal melanosis, commonly referred to as nevus of Ota, is a painless condition characterized by hyperpigmentation in and around the eye. In this case report, we describe the unique occurrence of both conditions in this pediatric patient.</p><p><strong>Case presentation: </strong>A 10-year-old girl exhibited classic ocular signs associated with Wilson's disease, including Kayser-Fleischer rings and sunflower-type cataracts. Additionally, she displayed unilateral confluent gray-blue hyperpigmentation consistent with a nevus of Ota. As of now, the patient remains asymptomatic, with preserved visual acuity.</p><p><strong>Conclusions: </strong>To the best of our knowledge, this case represents the first report of nevus of Ota in a child diagnosed with Wilson's disease.</p>","PeriodicalId":9635,"journal":{"name":"Case Reports in Ophthalmology","volume":"15 1","pages":"724-728"},"PeriodicalIF":0.5000,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521509/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000541119","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Wilson's disease is a rare autosomal recessive disorder that disrupts copper metabolism. It presents with distinctive ocular manifestations. Oculodermal melanosis, commonly referred to as nevus of Ota, is a painless condition characterized by hyperpigmentation in and around the eye. In this case report, we describe the unique occurrence of both conditions in this pediatric patient.
Case presentation: A 10-year-old girl exhibited classic ocular signs associated with Wilson's disease, including Kayser-Fleischer rings and sunflower-type cataracts. Additionally, she displayed unilateral confluent gray-blue hyperpigmentation consistent with a nevus of Ota. As of now, the patient remains asymptomatic, with preserved visual acuity.
Conclusions: To the best of our knowledge, this case represents the first report of nevus of Ota in a child diagnosed with Wilson's disease.
期刊介绍：
This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of ophthalmology, including prevention, diagnosis, treatment, toxicities of therapy, supportive care, quality-of-life, and survivorship issues. The submission of negative results is strongly encouraged. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed. The intent of the journal is to provide clinicians and researchers with a tool to disseminate their personal experiences to a wider public as well as to review interesting cases encountered by colleagues all over the world. Universally used terms can be searched across the entire growing collection of case reports, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
