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ALL DEFINITIONS

Dyskeratosis Congenita

Definition

Dyskeratosis congenita is a rare genetic disorder characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. It is caused by mutations in genes responsible for maintaining the stability and integrity of telomeres, leading to premature cell aging and increased risk of various medical complications, such as bone marrow failure, pulmonary fibrosis, and an increased predisposition to cancer.