Dyskeratosis congenita is characterised by abnormal pigmentation of skin, dystrophy of nails, and mucosal leukoplakia mainly on the tongue. Bone marrow failure, pulmonary complication, and premalignant leukoplakia of the tongue are serious complications of the disease.
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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.
J Med Case Rep
January 2025
Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.
Background: 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 new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.
View Article and Find Full Text PDF[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].
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October 2024
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
Unlabelled: Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.
Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.
Bilateral cytomegalovirus retinitis in a patient with dyskeratosis congenita.
Int J Ophthalmol
December 2024
Department of Ophthalmology, the Affiliated Hospital of Yunnan University, Kunming 650000, Yunnan Province, China.
"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.
JMIR Form Res
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Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, United States.
Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers of individuals with telomere biology disorders (TBDs), which are rare genetic conditions with long diagnostic odysseys and uncertain prognoses including multiorgan system cancer risk.
Objective: This study explored internet-based information-seeking and social support practices and perspectives of patients with TBDs and their caregivers.
Hoyeraal-Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation.
Ann Med Surg (Lond)
December 2024
University of Health Sciences, Adana Faculty of Medicine, Adana City Education and Research Hospital, Department of Pediatric Hematology and Oncology, Adana, Turkey.
Introduction And Importance: Dyskeratosis congenita (DC) is a rare multisystem disorder primarily characterized by bone marrow failure due to telomere shortening. Typical clinical features include oral leukoplakia, skin hyperpigmentation, and nail dystrophy, along with an increased risk of malignancies. Hoyeraal-Hreidarsson syndrome (HH), a severe variant of DC, is associated with profound neurological and immunological complications, emphasizing the importance of early diagnosis and genetic evaluation to guide appropriate management.
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