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 ?
Gemahsis' devastated mother Tamar Srondy has told how her young boy was diagnosed with a disease called dyskeratosis congenita - rare and progressive bone marrow failure syndrome.
Dyskeratosis congenita or Zinsser-Cole-Engman syn-dromeis is a rare inherited bone marrow failure syndrome (IBMFS) characterized by diagnostic triad of reticulated skin hyperpigmentation, nail dystrophy, and oromucosal leukoplakia (1).
An extensive variety of cutaneous conditions bearing a resemblance to CARP were considered in the differential diagnosis, including acanthosis nigricans (AN), tinea versicolor, Darier disease, terra firma-forme dermatosis, prurigo pigmentosa, flagellate dermatosis, and dyskeratosis congenita.
Oral squamous cell carcinoma in a case of dyskeratosis congenita.
The differential diagnoses of generalized RPD are dyschromatosis universalis hereditaria (DUH), dermatopathia pigmentosa reticularis (DPR), Naegeli- Franceschetti-Jadassohn syndrome and dyskeratosis congenita (DKC).
Telomere dysfunction is the hallmark of the telomere syndromes, conditions that are clinically characterized by premature aging and are exemplified by dyskeratosis congenita (DC) [3].
These nonsignificant results are in agreement with the previously-reported relationships in a panel of more than 20 different human cancer cell lines [sup][9] and in unaffected dyskeratosis congenita relatives.
Cian, four, suffers from Dyskeratosis Congenita which affects one in a million.
Oral and dental phenotype of dyskeratosis congenita.
Dyskeratosis congenita (DC) is a rare congenital disease involving integumentary system.
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.
Die facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia, thrombocytopenia absent radii (TAR), Glanzmarm's thrombasthenia and Hermansky--Pudlak syndrome.