Dyskeratosis Congenita


Dyskeratosis congenita, a recessively inherited genodermatosis, is unusual due to the high incidence of oral cancer in young affected adults.It is a rare X-linked disorder characterized by a series of oral changes that lead eventually to an atrophic leukoplakic oral mucosa, with the tongue and cheek most severely affected.

The oral changes occur in association with severely dystrophic nails and a prominent reticulated hyperpigmentation of the skin of the face, neck, and chest.Many cases also exhibit hematologic changes including pancytopenia, hypersplenism, and an aplastic or Fanconi’s anemia (ie, an anemia associated with an inherited inability to repair deoxyribonucleic acid [DNA] defects, leading to a high frequency of leukemia and lymphoma).The oral lesions commence before the age of 10 years as crops of vesicles with associated patches of white ulcerated necrotic mucosa often infected with Candida.Erythroplakic changes and nail dystrophy follow, with leukoplakic lesions and carcinoma supervening on the oral lesions in early adulthood.