ArticleExperimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation2022
Liver Transplant for Management of Hepatic Complications of Dyskeratosis Congenita: A Case Report.
Article in Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita.Orphanet journal of rare diseases · 2025Article
- Liver involvement in dyskeratosis congenita-Case series and concise literature review.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2025Article
- Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.Hepatology communications · 2024Article
- Clinical manifestations of telomere biology disorders in adults.Hematology. American Society of Hematology. Education Program · 2023Review
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Dyskeratosis congenita, a rare genetic disorder typified by progressive bone marrow failure, is classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia; however, it is a multisystem disease. Although hepatic involvement occurs in about 7% of patients with dyskeratosis congenita, end-stage liver disease is rare. Treatment of dyskeratosis congenita generally involves hematopoietic stem cell transplant. For patients with hepatic failure, liver transplant can be an option. Here, we describe a case of a patient with dyskeratosis congenita who presented with liver failure and pulmonary failure, precluding him from hematopoietic stem cell transplant. After liver transplant, the patient had significant improvements in pulmonary function and transfusion requirements, allowing the patient to qualify for hematopoietic stem cell transplant. Although hematopoietic stem cell transplant is typically the first step in the management of dyskeratosis congenita, for patients with severe hepatic manifestations of the disease, a liver transplant first approach may result in better disease management.
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