Results 61 to 70 of about 4,338 (156)
Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management
Indian Journal of Anaesthesia, 2015 Dyskeratosis congenita (DC) is an inherited disorder with progressive multisystem involvement. End stage liver disease (ESLD) in patients with DC is rare.
Anshuman Singh +3 more
doaj +1 more source
Oral and Maxillofacial Surgery Cases, 2020 Dyskeratosis congenita (DC) is commonly diagnosed clinically with three classic findings of 1) oral leukoplakia, 2) nail dystrophy, and 3) abnormal skin pigmentation.
John M. Le, DDS +2 more
doaj +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Global consensus on the management of melanin hyperpigmentation disorders
Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 760-772, May 2026.A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron +9 more
wiley +1 more source
p53 downregulates the Fanconi anaemia DNA repair pathway
Nature Communications, 2016 P53 is regarded as the guardian of the genome, however it is known that mice with increased p53 activity display characteristics of dyskeratosis congenita.
Sara Jaber +4 more
doaj +1 more source
eJHaem, Volume 7, Issue 2, April 2026.ABSTRACT Donor‐derived leukemia (DDL) is a rare complication of hematopoietic cell transplantation with poorly understood mechanisms. We report a case of DDL arising 1 year after double cord blood transplant for AML. The secondary leukemia demonstrated a distinct immunophenotype, donor origin, and novel mutations (FLT3 D835E, NPM1, NRAS) absent in the ...
Rebecca B. Rojansky +3 more
wiley +1 more source
Dyskeratosis Congenita Associated Non-Specific Interstitial Pneumonia [PDF]
Journal of Krishna Institute of Medical Sciences University, 2017 Dyskeratosis Congenita (DC) is a rare inherited disorder of ectodermal dysplasia. It consists of a classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. Pulmonary disease is seen in 10-15%.
Unnati D. Desai , Jyotsna M. Joshi
doaj
Dyskeratosis Congenita: A Report of Two Cases
Case Reports in Dentistry, 2013 Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita (DC) is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features.
Anila Karunakaran +4 more
doaj +1 more source
The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology
Histopathology, Volume 88, Issue 7, Page 1291-1294, June 2026.
Ian A Cree +18 more
wiley +1 more source