dyskeratosis congenita


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dys·ker·a·to·sis con·gen·'i·ta

[MIM*305000]
nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia progressing most commonly to pancytopenia; X-linked recessive inheritance, caused by mutation in the DKC1 gene encoding dyskenin on Xq.

dyskeratosis congenita

an X-linked syndrome with onset in childhood, characterized by nail dystrophy, reticular cutaneous hyperpigmentation, mucosal leukokeratosis, and pancytopenia resembling that of Fanconi's syndrome.
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Dyskeratosis congenita: nail dystrophy

dyskeratosis congenita

A rare X-linked or autosomal dominant disease characterized by dystrophic formation of the nails, oral leukoplakia, and hyperpigmentation of the skin. Affected patients may also suffer bone marrow failure, resulting in aplastic anemia or pulmonary fibrosis.

dyskeratosis congenita

A genetic syndrome in which the autosomal dominant form has mutations in TELOMERASE and features aplastic anaemia, nail dystrophy, oral leukoplakia and abnormal skin pigmentation. The TELOMERES are shorter than normal.
References in periodicals archive ?
Cian, four, suffers from Dyskeratosis Congenita which affects one in a million.
Collins achieved fame by showing that defects in telomerase (the enzyme that lengthens telomeres) are linked with a genetic disease called dyskeratosis congenita, which is associated with bone marrow failure.
During the one-and-a-half day symposium, researchers gave presentations about inherited bone marrow failure disorders such as Diamond Blackfan anemia, Shwachman-Diamond syndrome, Fanconi anemia, and dyskeratosis congenita, as well as acquired bone marrow failure, most often referred to as acquired aplastic anemia.
This patient demonstrated several features of dyskeratosis congenita (DC) in its classic form (nail dystrophy, mucosal leukoplakia, and skin pigmentation changes) and in concert with other abnormalities, including BM failure, urethral strictures, excessive tear production (epiphora), premature balding and gray hair, and pulmonary disease (1).
Andrews gives a list of conditions affected by telomere shortening, including: cardiovascular, cancer, COPD, degenerative disc disease, Alzheimer's, osteoarthritis, rheumatoid arthritis, osteoporosis, general immunity, skin aging, macular degeneration, liver cirrhosis, muscular dystrophy, cell and tissue transplants, AIDS, progeria, dyskeratosis congenita, idiopathic pulmonary fibrosis, cri du chat syndrome, Down syndrome, Fanconi's anemia, tuberous sclerosis, Werner's syndrome, and aging itself.
The new findings arose from Mary Armanios' observation that diabetes seems to occur more often in patients with dyskeratosis congenita, a rare, inherited disease caused by short telomeres.
5-year-old boy with dyskeratosis congenita was brought for treatment to our hospital due to severe persistent cytopenia.
Although SDS may be representative of other inherited BM failure syndromes with a leukemic propensity, such as Fanconi anemia, Diamond-Blackfan anemia, or dyskeratosis congenita, studies of each of these disorders are needed to investigate this hypothesis.
Furthermore, a number of inherited conditions, for example Down syndrome, Fanconi anemia, Bloom syndrome, Wiskott-Aldrich syndrome, dyskeratosis congenita, Werner syndrome, Shwachman syndrome, Blackfan-Diamond syndrome, and Klinefelter syndrome, carry an increased risk of AML [5,6].
The first cohort consisted of 59 Fanconi patients (30 males and 29 females; median age, 13 years; age range, 1-53 years) and 27 non-Fanconi patients (9 males and 18 females; median age, 26 years; age range, 5-56 years) with acquired aplastic anemia (n = 19), paroxysmal nocturnal hemoglobinuria (n = 2), dyskeratosis congenita (n = 3), Diamond-Blackfan anemia (n = 1), Schwachman syndrome (n = 1), or Glanzmann disease (n = 1).