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Dyskeratosis Congenita

Dyskeratosis congenita is a congenital disease, meaning it is present at birth. It was initially thought to only affect the skin and nails, but today experts understand that dyskeratosis congenita in its most severe form causes bone marrow failure. This is a potentially life-threatening condition in which bone marrow produces insufficient levels of blood cells, including red blood cells, white blood cells, and platelets.

Facts about dyskeratosis congenita

Dyskeratosis congenita is an extremely rare condition. Although the exact statistics are unknown, it's thought to affect only one person in 1 million.

Scientists have linked this genetic abnormality to shortening of the telomeres, which serve as protective "caps" on the ends of chromosomes within the body's cells.  Shortened telomeres are associated with chromosome damage.

What are the symptoms?

The first symptoms of dyskeratosis congenita usually appear in childhood. The disease can affect nearly any part of the body, but most commonly it involves cells that reproduce rapidly, such as the skin, nails, and mucous membranes.

These are the most recognizable symptoms:

  • Nail abnormalities. Dyskeratosis congenita often causes the fingernails and toenails to grow poorly, fall off, and have ridges or a thin "spoon" shape.

  • Skin abnormalities. The condition causes unusual changes in the color of the skin and often a distinct lace-like pattern on the chest and neck.

  • Patches in the mouth. Called oral leukoplakia, these thick, white patches often form inside the mouth.

Dyskeratosis congenita also often causes premature graying and hair loss.

Complications

Dyskeratosis congenita can cause a number of different complications, which range from mild, such as being short in height, to severe and potentially fatal.

These are serious complications of the condition:

  • Myelodysplastic syndrome. A condition in which immature blood cells show abnormal development; this often leads to bone marrow failure.

  • Bone marrow failure (aplastic anemia). A complication that occurs in more than 80 percent of people with dyskeratosis congenita.

  • Pulmonary fibrosis, or scarring or thickening of the lungs

  • Cancers, such as leukemia, and a higher risk for cancers of the head and neck, anus, and genitalia

  • Osteoporosis, or thinning of the bones

  • Urethral stenosis in men. A narrowing of the urethral channel, which may cause difficulty urinating.

  • Disorders affecting the mouth and gums

  • Infertility

  • Learning disabilities or delays

  • Abnormalities of the eyes

  • Joint degeneration

Risk factors

In most cases, dyskeratosis congenita is inherited from a parent who carries the genetic abnormality and is present at birth, although symptoms may not appear until later in life.

Some people carry the gene mutation that causes dyskeratosis congenita but never develop any symptoms or complications. They may still pass on the gene mutation to children or grandchildren, who may suffer symptoms of the disease.

Others develop the gene mutation without having a parent who has either dyskeratosis congenita symptoms or the gene mutation.

Treatment

There is no known cure for the condition, although bone marrow function can sometimes be improved with medications. A small number of bone marrow transplants have been performed successfully. 

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