Dyskeratosis Congenita (DC)

A multisystem disease caused by a defect in the prevention of cell aging. There is a protein (telomerase) that acts as the plastic end of DNA, keeping the DNA steady so it doesn't split in the end. The telomerase keeps the chromosome caps from shortening and "splitting"; if the caps are shortened and split, the cell is recognized by the body as old, and undergoes an early death. It works just as the plastic end of a shoelace do, keeping the shoelace ends for opening and splitting.

This disease affects all the tissues in the body so patients have a high risk for many medical complications. The diagnosis of classic DC is based on the presence of at least 2 of these 3 features: nail anomalies, skin discoloration in the upper chest or neck and white lesions in the mouth and tongue. Other systems commonly affected are the bone marrow, the lungs and the liver.

It is not unusual that these patients have a family history of bone marrow failure, head/neck and anogenital cancer in young member and pulmonary fibrosis (thickening of the lungs which causes the person to have trouble breathing).

The diagnosis is usually made with the clinical picture and confirmed with genetic and molecular studies; so far, 6 gene mutations have been discovered to be a cause for this disease, but only half of the patients with DC have them. The other half might have a mutation that has not been discovered yet.

Close surveillance is of the outmost importance because these patients are at high risk for different types of cancer.