[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-detail-455077-en":59,"doc-seo-455077-105":80},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":5,"data":60},{"doc_id":61,"user_id":62,"nickname":63,"user_avatar":64,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":66,"doc_content":67,"file_id":68,"file_url":69,"file_type":70,"file_size":71,"view_count":44,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":72,"language_code":73,"site_id":74,"html_lang":73,"table_of_contents":75,"faqs":76,"seo_title":77,"seo_description":66,"update_tm":78,"read_time":79,"preview_page_count":4},455077,24464137899374,"Blitz","https://us-avatar.wpscdn.com/davatar_3d24733baf745e90a7e4bdd5f77d97b2","A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia - Case report","Rationale: Dyskeratosis congenita is a rare genetic disorder classically defined by mucocutaneous triad and bone marrow failure, and diagnosis becomes difficult when blood findings appear first. Patient concerns: A 10-year-old boy presented with isolated thrombocytopenia and was initially misdiagnosed as aplastic anemia. Diagnoses: Retrospective review identified the mucocutaneous triad, and genetic testing confirmed a pathogenic DKC1 hemizygous mutation (c.1058C>T, p.A353V). Interventions included 3 months of androgen therapy plus genetic counseling and prenatal testing. Outcomes showed stable platelets (30–60×10^9/L) without bleeding or adverse events; the mother was a heterozygous carrier, and the fetus carried the same mutation. Lessons emphasize early genetic confirmation and informed reproductive planning; androgen therapy may provide supportive benefit.","®  \n Clinical Case Report   \nA rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia Case report  \nRuifan Wena , Jidong Tian, MSNb ,*  \n\n| Abstract\u003Cbr>Rationale: Dyskeratosis congenita is a rare genetic disorder classically characterized by the mucocutaneous triad and bone marrow failure. Diagnosis is challenging when hematologic manifestations precede classic features.\u003Cbr>Patient concerns: A 10-year-old male initially presented with isolated thrombocytopenia, which was misdiagnosed as aplastic anemia.\u003Cbr>Diagnoses: Retrospective examination revealed the mucocutaneous triad. Genetic testing confirmed a pathogenic hemizygous DKC1 mutation (c. 1058C>T, p.A353V) .\u003Cbr>Interventions: The patient received a 3-month course of androgen therapy. Genetic counseling and prenatal testing were conducted for the family.\u003Cbr>Outcomes: Androgen therapy maintained platelets at 30–60 × 109/L without bleeding or adverse events during follow-up. The asymptomatic mother was a heterozygous carrier. Prenatal testing identified the same mutation in a male fetus, leading to pregnancy termination at 24 weeks.\u003Cbr>Lessons: Dyskeratosis congenita can present with isolated cytopenia, risking misdiagnosis. Early genetic confirmation is vital for management and enables informed reproductive planning through prenatal diagnosis. Androgen therapy may be an effective supportive treatment.\u003Cbr>Abbreviations: BMF = bone marrow failure, DC = dyskeratosis congenita, HHS = Hoyeraal–Hreidarsson syndrome, HSCT = hematopoietic stem cell transplantation, RIC = reduced-intensity conditioning, SCC = squamous cell carcinoma. |\n| --- |\n| Keywords: bone marrow failure, case report, DKC1 , dyskeratosis congenita (DC) , thrombocytopenia |\n\n1. Introduction  \nDyskeratosis congenita (DC), also known as Zinsser–Engman– Cole syndrome, is a rare inherited disorder with a prevalence of 1 in 1 million individuals. [1] It is a congenital syndrome involving both mesodermal and ectodermal dysplasia and exhibits considerable clinical and genetic heterogeneity. The condition is characterized by a classic mucocutaneous triad: abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. In addition to these hallmark features, DC is often complicated by progressive bone marrow failure (BMF), pulmonary fibrosis, and an elevated risk of malignancies – particularly squamous cell carcinomas (SCCs) and hematological cancers. [2] Diagnosis typically relies on characteristic clinical findingsand laboratory tests, with confirmation through genetic analysis. Variability in age of onset and severity of mucocutaneous  \nThe authors have no funding and conflicts of interest to disclose.  \nData sharing not applicable to this article as no datasets were generated or analyzed during the current study.  \nThis study was approved by the Ethics Committee of the Second Xiangya Hospital of Central South University. Written informed consent for participation in this case report was provided by the participants' legal guardians.  \na Medical School, Hunan University of Chinese Medicine, Changsha, China, b Department of Gastroenterology, The Second Xiangya Hospital of Central South University, Changsha, China.  \n* Correspondence: Jidong Tian, Department of Gastroenterology, The Second Xiangya Hospital of Central South University, 4100111 Changsha, China (e-mail:  \n[tianjidong@csu.edu.cn](tianjidong@csu.edu.cn)).  \nand systemic involvement can lead to misdiagnosis as other BMF syndromes, such as aplastic anemia or Fanconi anemia. In some severe cases, patients die prematurely before mucocutaneous signs become apparent, further complicating timely detection. Here, we report the case of a 10-year-old boy with X-linked DC who was initially managed as a case of aplastic anemia.  \n2. Case report  \nA 10-year-old male patient was admitted on March 19, 2015, reporting intermittent dizziness and fatigue of more than 1 year’s duration. The symptoms had begun insidiously and were occasi","cbCaifuUQKCAVc18","https://ap.wps.com/l/cbCaifuUQKCAVc18","pdf",747563,"English","en",105,"# Introduction\n# Case report","[{\"question\":\"Why was the initial diagnosis difficult in this patient?\",\"answer\":\"The patient first showed isolated thrombocytopenia, and hematologic manifestations preceded classic mucocutaneous features, leading to misdiagnosis as aplastic anemia.\"},{\"question\":\"What confirmed the final diagnosis?\",\"answer\":\"Retrospective recognition of the mucocutaneous triad and genetic testing confirmed a pathogenic hemizygous DKC1 mutation (c.1058C\\u003eT, p.A353V).\"},{\"question\":\"What treatment and outcomes were reported?\",\"answer\":\"A 3-month androgen therapy course maintained platelet counts at 30–60×10^9/L without bleeding or adverse events during follow-up. Genetic counseling and prenatal testing were also performed for the family.\"}]","A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia - Case report | PDF",1790742065,15,{"code":4,"msg":81,"data":82},"ok",{"site_id":74,"language":73,"slug":83,"title":65,"keywords":84,"description":66,"schema_data":85,"social_meta":139,"head_meta":141,"extra_data":143,"updated_unix":144},"a-rare-case-of-dyskeratosis-congenita-with-dkc1-mutation-presenting-initially-as-thrombocytopenia-case-report","",{"@graph":86,"@context":138},[87,101,121],{"@type":88,"itemListElement":89},"BreadcrumbList",[90,94,96,99],{"item":91,"name":92,"@type":93,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":95,"name":9,"@type":93,"position":14},"https://docshare.wps.com/document/",{"item":97,"name":35,"@type":93,"position":98},"https://docshare.wps.com/document/healthcare/",3,{"item":100,"name":65,"@type":93,"position":19},"https://docshare.wps.com/document/a-rare-case-of-dyskeratosis-congenita-with-dkc1-mutation-presenting-initially-as-thrombocytopenia-case-report/455077/",{"url":100,"name":65,"@type":102,"image":103,"author":108,"headline":65,"publisher":110,"fileFormat":113,"inLanguage":73,"description":66,"dateModified":114,"datePublished":115,"encodingFormat":113,"isAccessibleForFree":116,"interactionStatistic":117},"DigitalDocument",{"url":104,"@type":105,"width":106,"height":107},"https://docshare.wps.com/thumbnails/a-rare-case-of-dyskeratosis-congenita-with-dkc1-mutation-presenting-initially-as-thrombocytopenia-case-report/455077.png","ImageObject",300,407,{"name":63,"@type":109},"Person",{"url":91,"name":111,"@type":112},"DocShare","Organization","application/pdf","2026-11-02","2026-09-30",true,{"@type":118,"interactionType":119,"userInteractionCount":44},"InteractionCounter",{"@type":120},"ViewAction",{"@type":122,"mainEntity":123},"FAQPage",[124,130,134],{"name":125,"@type":126,"acceptedAnswer":127},"Why was the initial diagnosis difficult in this patient?","Question",{"text":128,"@type":129},"The patient first showed isolated thrombocytopenia, and hematologic manifestations preceded classic mucocutaneous features, leading to misdiagnosis as aplastic anemia.","Answer",{"name":131,"@type":126,"acceptedAnswer":132},"What confirmed the final diagnosis?",{"text":133,"@type":129},"Retrospective recognition of the mucocutaneous triad and genetic testing confirmed a pathogenic hemizygous DKC1 mutation (c.1058C>T, p.A353V).",{"name":135,"@type":126,"acceptedAnswer":136},"What treatment and outcomes were reported?",{"text":137,"@type":129},"A 3-month androgen therapy course maintained platelet counts at 30–60×10^9/L without bleeding or adverse events during follow-up. Genetic counseling and prenatal testing were also performed for the family.","https://schema.org",{"og:url":100,"og:type":140,"og:title":65,"og:site_name":111,"og:description":66},"article",{"robots":142,"canonical":100},"index,follow",{"doc_id":61,"site_id":74},1790795684]