Dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Cyanosis

Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.


Total: 2

                       


(per page)
PMID (PMCID)
19953657
 MALE
Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita.
Renoux MC, Mazars N, Tichit R, Counil F.
Pediatr Pulmonol. 2010;45(1):99-102.
We report the case of a 5-year-old child with dyskeratosis congenita who presented cyanosis and dyspnea at exertion.
19953657
 MALE
Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita.
Renoux MC, Mazars N, Tichit R, Counil F.
Pediatr Pulmonol. 2010;45(1):99-102.
Cyanosis revealing hepatopulmonary syndrome in a child with dyskeratosis congenita.