dyskeratosis congenita


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

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.