Dyskeratosis congenita

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.

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Causes

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