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Page 1
Dyskeratosis Congenita.
Garofola C, Nassereddin A, Gross GP. Garofola C, et al. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29939532 Free Books & Documents.
Dyskeratosis congenita (DKC), which is also known as Zinsser-Engman-Cole syndrome, is a genodermatosis originally described by Zinsser in 1906. ...
Dyskeratosis congenita (DKC), which is also known as Zinsser-Engman-Cole syndrome, is a genodermatosis originally descr
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F. Vieri M, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282. doi: 10.1016/j.beha.2021.101282. Epub 2021 Jul 1. Best Pract Res Clin Haematol. 2021. PMID: 34404536 Review.
Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early childhood, such as Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus disease, to dyskeratosis congenita (DKC
Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early …
Revesz syndrome revisited.
Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, Cremer FW, Bader P, Dürken M. Karremann M, et al. Orphanet J Rare Dis. 2020 Oct 23;15(1):299. doi: 10.1186/s13023-020-01553-y. Orphanet J Rare Dis. 2020. PMID: 33097095 Free PMC article. Review.
BACKGROUND: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. ...Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients exper …
BACKGROUND: Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal repor …
Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.
Jyonouchi S, Forbes L, Ruchelli E, Sullivan KE. Jyonouchi S, et al. Pediatr Allergy Immunol. 2011 May;22(3):313-9. doi: 10.1111/j.1399-3038.2010.01136.x. Epub 2011 Feb 1. Pediatr Allergy Immunol. 2011. PMID: 21284747 Review.
BACKGROUND: Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic abnormalities, and cancer predisposition resulting from defective telomere maintenance. The immunologic features of DKC remain under …
BACKGROUND: Dyskeratosis Congenita (DKC) is a syndrome characterized by immunodeficiency, bone marrow failure, somatic …
Inherited Reticulate Pigmentary Disorders.
Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S. Lin MH, et al. Genes (Basel). 2023 Jun 20;14(6):1300. doi: 10.3390/genes14061300. Genes (Basel). 2023. PMID: 37372478 Free PMC article. Review.
Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli-Franceschetti-Jadassohn syndrom …
Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentatio …
Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.
Hassock S, Vetrie D, Giannelli F. Hassock S, et al. Genomics. 1999 Jan 1;55(1):21-7. doi: 10.1006/geno.1998.5600. Genomics. 1999. PMID: 9888995
We report the precise mapping and characterization of the genomic structure of the human homolog of the rat gene for the nucleolar protein NAP57, which has been reported to be responsible for X-linked dyskeratosis congenita (DKC). This single-copy gene, now c …
We report the precise mapping and characterization of the genomic structure of the human homolog of the rat gene for the nucleolar protein N …
Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita.
Nisar H, Khan M, Chaudhry QUN, Iftikhar R, Ghafoor T. Nisar H, et al. Front Oncol. 2023 Mar 2;13:1098876. doi: 10.3389/fonc.2023.1098876. eCollection 2023. Front Oncol. 2023. PMID: 36937416 Free PMC article.
Dyskeratosis congenita (DKC), also known as Zinsser-Cole-Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2,
Dyskeratosis congenita (DKC), also known as Zinsser-Cole-Engman syndrome, is a telomeropathy typically presenting as a
Reticulate hyperpigmentation.
Schnur RE, Heymann WR. Schnur RE, et al. Semin Cutan Med Surg. 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. Semin Cutan Med Surg. 1997. PMID: 9125768 Review.
Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. Dyskeratosis congenita (DKC) is the prototype of these. In addition to reticulate hyperpigmentation, mucosal leukoplakia, bone marrow dysfunction, cytogenetic instability, …
Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. Dyskeratosis congenita (DKC) is …
Dyskeratosis congenita: a rare case report.
Khattab S, Nasser H, Al-Janabi MH, Hasan F. Khattab S, et al. Oxf Med Case Reports. 2024 May 20;2024(5):omae049. doi: 10.1093/omcr/omae049. eCollection 2024 May. Oxf Med Case Reports. 2024. PMID: 38784779 Free PMC article.
Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by lacy reticular skin hyperpigmentation, bone marrow failure, nail dystrophy, and oral leukoplakia. ...A contrast CT scan revealed changes in the bladder wall. The final diagnosis of Dy
Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by lacy reticular skin hyperpigmentation, bone ma
Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review.
Bhoopalan SV, Wlodarski M, Reiss U, Triplett B, Sharma A. Bhoopalan SV, et al. Pediatr Blood Cancer. 2021 Oct;68(10):e29177. doi: 10.1002/pbc.29177. Epub 2021 Jun 4. Pediatr Blood Cancer. 2021. PMID: 34086408 Review.
BACKGROUND: Bone marrow failure in dyskeratosis congenita (DKC) is progressive, and allogeneic hematopoietic cell transplantation (HCT) is the only curative treatment. ...CONCLUSION: Because of toxicity after myeloablative conditioning, RIC is becoming standa …
BACKGROUND: Bone marrow failure in dyskeratosis congenita (DKC) is progressive, and allogeneic hematopoietic cell trans …
70 results