The evolving genetic landscape of telomere biology disorder dyskeratosis congenita [PDF]
EMBO Molecular MedicineDyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology. Approximately 35% of cases remain uncharacterised at the genetic level.
Madapura Pradeepa +2 more
exaly +3 more sources
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad [PDF]
Frontiers in Pediatrics, 2022 BackgroundDyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 (DKC1) is responsible for 4.6%
Yongan Zhou +2 more
exaly +4 more sources
Hematology/Oncology Clinics of North America, 2009 Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors.
Sharon Savage
exaly +8 more sources
Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis [PDF]
Respiratory Medicine Case Reports, 2023 Dyskeratosis congenita is a rare genetic disorder of telomere insufficiency characterized by a mucocutaneous triad of nail dystrophy, abnormal skin pigmentation, and mucosal leukoplakia.
Jinhee Han, Jin Woo Song
doaj +2 more sources
Autops Case Rep, 2020 Dyskeratosis congenita (DC) is a genetic syndrome with progressive multisystem involvement classically characterized by the clinical triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. Frequent complications are bone marrow failure, increased rate of malignancy, lung and liver diseases.
Gitto L +3 more
europepmc +8 more sources
Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report [PDF]
Case Reports in OphthalmologyIntroduction: Dyskeratosis congenita is a rare genetic disorder characterized by abnormalities of the skin, nails, and oral mucosa. Retinal involvement in this condition is uncommon.
Yuxi Du, Yalong Dang
doaj +2 more sources
A Case of Long-Term Management of Oral Function in a Child with Dyskeratosis Congenita [PDF]
DiagnosticsBackground and Clinical Significance: Dyskeratosis congenita (DC) is a rare inherited disorder classified as a telomere biology disorder and characterized by multisystem involvement, including bone marrow failure and mucocutaneous abnormalities.
Erika Aoki, Keigo Kubota, Kazuto Hoshi
doaj +2 more sources
Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita [PDF]
Orphanet Journal of Rare DiseasesBackground Dyskeratosis congenita (DC) is a rare and fatal disease, presenting with a classic triad of skin pigmentation, nail dystrophy and oral leukoplakia.
Xuefeng Zhang +5 more
doaj +2 more sources
TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report [PDF]
Journal of Medical Case ReportsBackground Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. “Porto-sinusoidal vascular disease” has been recently proposed, according to
Ge Yu +5 more
doaj +2 more sources
Segmental dyskeratosis congenita - A diagnostic challenge [PDF]
Anais Brasileiros de DermatologiaHiram Larangeira de Almeida Junior +5 more
doaj +2 more sources