Results 31 to 40 of about 4,338 (156)
Autopsy and Case Reports, 2021 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.
Lorenzo Gitto +3 more
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Haematologica, 2018 The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a common ...
Blanche P. Alter +3 more
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ERRATUM: Partial retraction of “Dyskeratosis congenita” [Autops Case Rep 10(3) (2020) e2020203]
Autopsy and Case Reports, 2022 Due to a desktop publishing error, the partial retraction notice “Partial retraction of “Dyskeratosis congenita” [Autops Case Rep 10(3) (2020) e2020203]” (DOI https://doi.org/10.4322/acr.2021.341), published in Autops. Case Rep.
Autopsy and Case Reports
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DYSKERATOSIS DIFFUSA CONGENITA [PDF]
Archives of Pediatrics & Adolescent Medicine, 1922 REPORT OF CASE History. —The infant was born normally at term. It cried directly after birth and the meconium and urine were evacuated before the child had anything by mouth. It is the first child of healthy parents. There is no history of miscarriages or of tuberculosis. Examination.
openaire +2 more sources
Dyskeratosis congenita presenting with dysphagia
Indian Dermatology Online Journal, 2016 Dyskeratosiscongenita (DKC) is a genetically heterogeneous disease of defective telomere maintenance that may demonstrate different patterns of inheritance. It is characterized by thetriad of dystrophy of the nails, leukokeratosis of the oral mucosa, and
Kalpana Gupta +3 more
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Biomolecules, 2023 Inherited bone marrow failure syndromes (IBMFSs) include Fanconi anemia, Diamond–Blackfan anemia, Shwachman–Diamond syndrome, dyskeratosis congenita, severe congenital neutropenia, and other rare entities such as GATA2 deficiency and SAMD9/9L mutations ...
Nozomu Kawashima +2 more
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Cells, 2019 Dyskerin is a protein involved in the formation of small nucleolar and small Cajal body ribonucleoproteins. These complexes participate in RNA pseudouridylation and are also components of the telomerase complex required for telomere elongation.
Javier Rodriguez-Centeno +2 more
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Cancer in dyskeratosis congenita
Blood, 2009 AbstractDyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this disorder of telomere biology has not been described. There were more than 500 cases of DC reported in the literature from 1910 to 2008; the National Cancer Institute (NCI) prospective DC cohort enrolled 50 cases from 2002 ...
Blanche P, Alter +3 more
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Nail Lichen Planus in Children ‐ Epidemiology, Pathogenesis, Clinical Presentation, and Treatment
JEADV Clinical Practice, EarlyView.ABSTRACT Nail lichen planus (NLP) is a chronic inflammatory disorder that, while rare in children compared to adults, represents a significant cause of pediatric nail dystrophy that requires early recognition to prevent permanent scarring and nail loss.
Francesca Pampaloni, Matilde Iorizzo
wiley +1 more source
Dyskeratosis congenita with squamous cell carcinoma of the tongue: A rare case report
Indian Journal of Pathology and MicrobiologyDyskeratosis congenita is a rare inherited bone marrow failure disorder characterized by a classic triad: nail dystrophy, reticulate skin pigmentation, and oral leukoplakia.
S Sneha +3 more
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