{"title":"Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.","authors":"Ghafoor Ullah, Sidra Shabbir, Hanniya Marwat, Fahad Faizullah, Maisan Qadir, Maryam Sardar","doi":"10.47391/JPMA.20061","DOIUrl":null,"url":null,"abstract":"<p><p>Bardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of both feet, scalp seborrhoea,, keratosis pilaris, and polydactyly, associated with night blindness and central obesity. Initial workup correlated well with BBS reporting metabolic syndrome, retinal dystrophy, and gonadal dysfunction. Genetic testing for disease confirmation was not done due to the limited hospital resources. Multidisciplinary symptomatic management was carried out for the patient, along with counselling of the parents regarding possible complications of the disease. This case was reported at the Dermatology Department of Medical Teaching Institute-Hayatabad Medical Complex, Peshawar.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"970-973"},"PeriodicalIF":0.8000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Pakistan Medical Association","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.47391/JPMA.20061","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Bardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of both feet, scalp seborrhoea,, keratosis pilaris, and polydactyly, associated with night blindness and central obesity. Initial workup correlated well with BBS reporting metabolic syndrome, retinal dystrophy, and gonadal dysfunction. Genetic testing for disease confirmation was not done due to the limited hospital resources. Multidisciplinary symptomatic management was carried out for the patient, along with counselling of the parents regarding possible complications of the disease. This case was reported at the Dermatology Department of Medical Teaching Institute-Hayatabad Medical Complex, Peshawar.
期刊介绍：
Primarily being a medical journal, JPMA publishes scholarly research focusing on the various fields in the areas of health and medical education. It publishes original research describing recent advances in health particularly clinical studies, clinical trials, assessments of pathogens of diagnostic importance, medical genetics and epidemiological studies. Review articles highlighting importance of various issues in the domain of public health, drug research and medical education are also accepted. As a leading journal of South Asia, JPMA remains cognizant of the recent advances in the rapidly growing fields of biomedical sciences, it invites and encourages scholars to write short reviews and invited editorials on the emerging issues. We particularly aim to promote health standards of developing countries by encouraging manuscript submissions on issues affecting the public health and health delivery services.
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