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Haematology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Clinical manifestations in dyskeratosis congenita (DC) often appear during childhood, although there is a wide age range most likely reflecting the type of mutation causing DC. Skin pigmentation and nail changes (Fig. 11.35) typically appear first with bone marrow failure occuring a number of years later. The clinical complexity of the disease has expanded in recent years to include: idiopathic aplastic anaemia +/– MDS; (ii) idiopathic pulmonary fibrosis; (iii) the Hoyeraal–Hreidarrson syndrome, characterised by microencephaly, cerebellar hypoplasia, growth retardation, enteropathy and immunodeficiency with or without aplastic anaemia; (iv) a presentation overlapping Revesz syndrome or Coats plus, with retinopathy and intracranial calcifications.
Idiopathic pulmonary fibrosis: Epidemiology, natural history and pathophysiology
Published in Muhunthan Thillai, David R Moller, Keith C Meyer, Clinical Handbook of Interstitial Lung Disease, 2017
Zulma Yunt, Jeffrey J Swigris, Amy L Olson
Clues to the importance of a genetic component in the development of pulmonary fibrosis came from the recognition of familial disease and from specific known genetic disorders including dyskeratosis congenita and Hermansky–Pudlak syndrome. Dyskeratosis congenita is a rare, heritable condition characterized by bone marrow failure and mucocutaneous features, and is commonly complicated by pulmonary fibrosis (63,64). The disease is caused by genetic mutations in genes responsible for telomerase maintenance. This observation led to an examination of telomerase genes in familial forms of lung fibrosis not associated with dyskeratosis congenita. This identified an association between familial pulmonary fibrosis (FPF) and mutations in TERT and TERC (65,66). Similarly, other studies identified variants in genes encoding surfactant protein C (SFTPC), surfactant protein A2 (SFTPA2) (67–69). Together however, these mutations account for only a minority of cases of pulmonary fibrosis.
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
7.D: There are no other features of Fanconi anaemia. C: Pancreatic insufficiency is associated with Shwachman-Diamond syndrome.G: Skin changes with an increased risk of cancer and bone marrow failure are the main characteristic features of dyskeratosis congenita.E: The DNA repair study will be normal, and the presence of the thumb is another feature of TAR syndrome.
Ribosomopathies and cancer: pharmacological implications
Published in Expert Review of Clinical Pharmacology, 2022
Gazmend Temaj, Sarmistha Saha, Shpend Dragusha, Valon Ejupi, Brigitta Buttari, Elisabetta Profumo, Lule Beqa, Luciano Saso
10) Dyskeratosis congenita is a disorder that affects many parts of the body. Three features are characteristic of this disorder: a) fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); b) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as ‘lacy’; and c) white patches inside the mouth. Individuals with congenital dyskeratosis may develop leukemia, pulmonary fibrosis, eye abnormalities, hair loss, low bone mineralization, and dental problems. They have a higher risk of developing cancer in different body parts [277,278]. In patients affected with this type of disease, mutations in TERT, TERC, DKC1, and TINF2 have been found. hTR and hTER are the main telomerase components produced by TERC and TERT genes, respectively. hTR is an RNA molecule, a chimerical cousin of DNA [279–281].
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
Published in Ophthalmic Genetics, 2020
Elaine Han, Nimesh A. Patel, Nicolas A. Yannuzzi, Diana M. Laura, Kenneth C. Fan, Catherin I. Negron, Supalert Prakhunhungsit, Willa L. Thorson, Audina M. Berrocal
We present the first report of Coats plus syndrome and dyskeratosis congenita in a single patient. These findings are associated with a novel genetic mutation in the CTC1 gene. Given the phenotypic overlap in conjunction with a common pathway of telomere dysfunction, these two entities may represent a single spectrum of disease. It is possible that previously reported patients with dyskeratosis congenita and CTC1 mutations had unidentified retinal vascular disease. Telomeric diseases can involve many systems and require a multidisciplinary approach. Favorable outcomes were achieved with early detection by angiography and treatment with photocoagulation and anti-VEGF, including complete resolution of an exudative retinal detachment. The phenotype in our patient, and others described, with partial features of dyskeratosis congenita and Coats plus syndrome suggests that patients with dyskeratosis congenita or CTC1 mutations should undergo careful eye examinations including fluorescein angiography to identify abnormalities early on and prevent vision loss.
Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report
Published in Ophthalmic Genetics, 2018
G. Peene, E. Smets, E. Legius, C. Cassiman
Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer susceptibility syndrome caused by germline mutations in telomere biology genes (Ballew and Savage 2013; Dokal et al. 2014). It is clinically diagnosed by the presence of the diagnostic triad of reticular skin pigmentation, nail dysplasia, and oral leukoplakia; however, phenotypic heterogeneity is common. Germline mutations in DKC1 (OMIM 300126), TINF2 (OMIM 604319), TERC (OMIM 602322), TERT (OMIM 187270), NOP10 (OMIM 606471), NHP2 (OMIM 606470), WRAP53 (OMIM 612661), CTC1 (OMIM 613129), RTEL1 (OMIM 608833), ACD (OMIM 609377) (Kocak et al. 2014), and PARN (OMIM 604212) (Dhanraj et al. 2015; Moon et al. 2015) genes account for approximately 70% of classic DC (Dokal et al. 2014; Bertuch 2015).