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Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome,[1] is a rare progressive congenital disorder of the integumentary system that also results in anomalies of bone marrow.
It is 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 some types of cancer.
DKC is an X-linked recessive[1] inherited congenital disorder resulting from genetic mutations in telomerase-associated proteins, such as dyskerin.[2]
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