Dysfunctional telomeres and dyskeratosis congenita

Dysfunctional telomeres and dyskeratosis congenita.

Long tails, short telomeres: Dyskeratosis congenita

Dyskeratosis congenita (DC) is an inherited life threatening bone marrow failure syndrome [1]. The name dyskeratosis comes from the classic triad of clinical features nail dystrophy, abnormal skin pigmentation and leucoplakia in patients with DC. However the mortality in DC is primarily due to bone marrow failure and other complications such as pulmonary fibrosis, liver cirrhosis and early onse...

[Dyskeratosis congenita].

Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy and skin pigmentation. Whilst most cases are X-linked, autosomal dominant and recessive forms have been reported. The significance of the condition lies in premature mortality arising from either bone marrow failure or malignant change wi...

Cancer in dyskeratosis congenita.

Dyskeratosis 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 to 2007. Sixty cancers were reported in 52 literatu...

Dyskeratosis congenita Authors: Doctors

Key-words Name of the disease/Included diseases Definition Differential diagnosis Aetiology/pathophysiology Clinical description Diagnostic methods Epidemiology Genetic counselling Antenatal diagnosis Management including treatment Unresolved questions References Abstract Classical dyskeratosis congenita (DC) is a rare multisystem disorder with a prevalence estimated to 1 in 1,000,000. DC is ch...