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Dyskeratosis congenita



Dyskeratosis congenita
Classification & external resources
OMIM 305000
DiseasesDB 30105
eMedicine derm/111 
MeSH D019871

Dyskeratosis congenita (DKC) is a rare progressive bone marrow failure syndrome characterized by cutaneous pigmentation, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia and in most cases testicular atrophy. People afflicted with this are also highly susceptible to developing cancer.

Causes

DKC is a congenitally inherited disease which results from genetic mutations in telomerase-associated proteins, such as dyskerin.


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Dyskeratosis_congenita". A list of authors is available in Wikipedia.
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