Dyskeratosis Congenita | Symptoms & Causes

What are the symptoms of dyskeratosis congenita?

Dyskeratosis congenita (DC) symptoms and the onset of symptoms vary among those affected. In some individuals, the condition may be mild and in others more severe.

Characteristically, the signs and symptoms include:

  • abnormalities of the skin, such as unusual pigmentation with a net-like pattern on the neck and upper chest
  • defects in fingernails and toenails, including cracking, splitting, and underdevelopment or distortion
  • oral lesions that appear as white patches in the mouth

The absence of these classic symptoms does not rule out DC, and depending upon the severity, some individuals may have other potential complications, such as:

  • bone marrow failure
  • lung disease
  • cancer
  • liver disease

Eventually, most people with DC will develop bone marrow failure. It may happen in early childhood, during adolescence, or it may not occur until adulthood.

What causes DC?

The underlying cause of DC is the presence of shortened telomeres. Telomeres protect genetic data. Like the plastic tip on the end of a shoelace, telomeres keep chromosome ends from fraying and fusing together, while allowing cells to divide.

Each time a cell divides, the telomere shortens, and when they become too short the cell stops dividing. People with DC have a gene abnormality that disables their ability to maintain telomeres. Their cells stop dividing too early, resulting in failure of their organs and disease.

DC is most often inherited, passed from parent to child, although, some parents may never show signs of the condition. Less often, it is not inherited but rather a new gene mutation in the child.