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Dyskeratosis Congenita in Children

What is dyskeratosis congenita?

Dyskeratosis congenita is a congenital disease. This means it is present at birth. It affects the skin and nails. In its most severe form, it causes bone marrow failure. When bone marrow doesn't make enough blood cells, it can be life-threatening.

Dyskeratosis congenita is a very rare condition.

What causes dyskeratosis congenita?

In most cases, dyskeratosis congenita is inherited from a parent who carries the gene defect. It is present at birth. But symptoms may not appear until later in life.

Some people carry the gene defect that causes dyskeratosis congenita but never get any symptoms or complications. They may still pass the defect to children or grandchildren, who may have symptoms.

Others get the gene defect without having a parent who has either symptoms or the gene defect.

What are the symptoms of dyskeratosis congenita?

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

Your child may have:

  • Nail abnormalities. It often causes the fingernails and toenails to grow poorly and fall off. They may also have ridges or a thin "spoon" shape.
  • Skin abnormalities. The condition causes unusual changes in the skin color. It also causes 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.

How is dyskeratosis congenita diagnosed?

Your child's healthcare provider may suspect dyskeratosis congenita based on your child's symptoms. He or she may order blood tests including chromosome tests (to look for abnormal DNA) and genetic tests (to look for gene defects). These tests may be normal in some people with dyskeratosis congenita.

How is dyskeratosis congenita treated?

Your child's provider will refer you to a hematologist. This is a specialist in blood disorders.  

There is no known cure for the condition. Watching your child for signs and symptoms of bone marrow failure is important. Your child's healthcare provider may be able to treat specific symptoms of the disease. 

For those with bone marrow failure, an anabolic steroid may be prescribed. It is similar to the male hormone testosterone.The drug helps the bone marrow make more cells. Stem cell transplants may cure bone marrow failure. But, there is a high risk of death from stem cell transplants in people with dyskeratosis congenita.

What are the complications of dyskeratosis congenita?

There are many serious complications including:

  • Myelodysplastic syndrome. A condition in which young blood cells show abnormal growth. This often leads to bone marrow failure.
  • Bone marrow failure (aplastic anemia)
  • 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 genitals.
  • Osteoporosis, or thinning of the bones
  • Urethral stenosis in men. A narrowing of the urethral channel, which may cause trouble urinating.
  • Disorders affecting the mouth and gums
  • Infertility
  • Learning disabilities or delays
  • Abnormalities of the eyes
  • Joint degeneration

When should I call my child's healthcare provider?

You know your child better than anyone else. If you are in doubt or if you have questions or concerns, it is best to contact his or her healthcare provider.

Also, work closely with your child's healthcare providers to know what to report. It depends on your child's age, treatment and other factors. For example, your child's provider will tell you what to watch for if your child has had a stem cell transplant. Or if your child is taking medication, the provider will tell you what side effects may occur. 

Key points about dyskeratosis congenita

  • Dyskeratosis congenita affects the skin and nails. In its most severe form, it causes bone marrow failure. 
  • Dyskeratosis congenita is most often inherited from a parent who carries the genetic defect.
  • Treatment for severe forms include anabolic steroid medication and stem cell transplantation.

Next steps

Tips to help you get the most from a visit to your child’s health care provider:
  • Before your visit, write down questions you want answered.
  • At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you for your child.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.