ALLMedicine™ Dyskeratosis Congenita Center

Mar 23rd, 2021 - We report the first two dyskeratosis congenita (DKC) cases, involving progressive pulmonary diseases, requiring urgent living-donor lung transplantations. Case 1: A 13-year-old boy with DKC underwent bone marrow transplantation for aplastic anemia...

Mar 19th, 2021 - Dyskeratosis congenita is a rare inherited bone marrow failure syndrome with three distinct clinical features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia. The case of a 5-year-old female patient diagnosed with squamous cell ...

Mar 19th, 2021 - Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikilo...

Feb 2nd, 2021 - Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related...

Jan 7th, 2021 - Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially o...

May 23rd, 2017 - Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). ...

Mar 23rd, 2021 - We report the first two dyskeratosis congenita (DKC) cases, involving progressive pulmonary diseases, requiring urgent living-donor lung transplantations. Case 1: A 13-year-old boy with DKC underwent bone marrow transplantation for aplastic anemia...

Mar 19th, 2021 - Dyskeratosis congenita is a rare inherited bone marrow failure syndrome with three distinct clinical features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia. The case of a 5-year-old female patient diagnosed with squamous cell ...

Mar 19th, 2021 - Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo- as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikilo...

Feb 2nd, 2021 - Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related...

Jan 7th, 2021 - Dyskeratosis congenita affects many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially o...

Mar 7th, 2019 - HOUSTON – Use of an alemtuzumab/fludarabine conditioning regimen – without any radiation or alkylating agents – was effective in patients with a systemic regenerative disease who experienced myeloid failure after allogeneic transplantation, accord.

Jul 28th, 2017 - Image by Marquet Minor Chromosomes in blue with telomeres in green Gene editing has revealed how dyskeratosis congenita (DC) impairs the formation of blood cells, according to research published in Stem Cell Reports. The discovery has opened up ne.

Aug 20th, 2016 - Lab mouse Preclinical research has revealed a potential treatment strategy for dyskeratosis congenita (DC). Researchers found that DC is characterized by reductions in telomerase, telomere length, and telomere capping, which reduces Wnt pathway ac.

Bowen disease (BD) of the nail unit has multiple clinical presentations, often making its diagnosis challenging. BD is a squamous cell carcinoma (SCC) in situ with various cited etiologic causes, including ionizing and nonionizing radiation, hydro.