Results 11 to 20 of about 4,338 (156)
Molecular Genetics & Genomic MedicineBackground Dyskeratosis congenita (DKC) is typically characterized by the triad of abnormal cutaneous pigmentation, nail dystrophy, and oral mucosal leukoplakia.
Taimoor I. Sheikh, John B. Vincent
doaj +2 more sources
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita [PDF]
Genes, 2022 FRANCISCO Cammarata-Scalisi +2 more
exaly +2 more sources
The Role of Herpes Viruses in Pulmonary Fibrosis
Frontiers in Medicine, 2021 Pulmonary fibrosis (PF) is a serious lung disease which can result from known genetic or environmental exposures but is more commonly idiopathic (IPF).
Anna Duckworth +4 more
doaj +1 more source
FEBS Letters, 2010 Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic nails and oral leukoplakia. Another name for the condition is Zinsser-Cole-Engman syndrome. Hematologic manifestations usually do not appear in childhood but later in early adulthood.
Vineeta, Gupta, Akash, Kumar
openaire +4 more sources
Human Pathology: Case Reports, 2021 Dyskeratosis congenita is a disease of impaired tissue maintenance downstream of telomere dysfunction. Characteristically, patients present with the clinical triad of nail dystrophy, oral leukoplakia, and skin pigmentation defects, but the disease ...
Caitlin M. Roake +4 more
doaj +1 more source
Dermatology Online Journal, 2014 Dyskeratosis congenita is a rare disorder that often leads to early death owing to a variety of complications and associated disorders. Early diagnosis and intervention is important in care for patients affected by this disease.We describe a patient with dyskeratosis congenita (DC) in a child.
Keeling, Brett +4 more
openaire +4 more sources
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
Haematologica, 2016 Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management.
Amanda J. Walne +17 more
doaj +1 more source
REVESZ SYNDROME AND DIFFERENTIAL DIAGNOSIS OF PANCYTOPENIA AND APLASTIC ANEMIA – CASE REPORT
Slovenska pediatrija, 2023 We are presenting a case of a boy with Revesz syndrome, and through an example of his diagnostic pathway, we are presenting a differential diagnosis of pancytopenia and aplastic anaemia. Revesz syndrome is a rare and severe form of dyskeratosis congenita,
Matjaž Homšak +4 more
doaj +1 more source
Telomere length in inherited bone marrow failure syndromes
Haematologica, 2015 Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter +3 more
doaj +1 more source
Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report
Journal of Medical Case Reports, 2019 Background DKC1 (dyskerin pseudouridine synthase 1) is a causative gene for X-linked dyskeratosis congenita. Approximately 8% of patients with dyskeratosis congenita have malignancy, but information about the development of malignancy in patients with ...
Motoko Watanabe +6 more
doaj +1 more source