What is dyskeratosis congenita in children?

Dyskeratosis congenita is a congenital disease. This means it's present at birth. It's a very rare condition. 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.

What causes dyskeratosis congenita in a child?

In most cases, this condition is inherited from a parent who carries the gene defect. It's 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 in a child?

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

Your child may have:

• Nail problems. It often causes the fingernails and toenails to grow poorly and fall off. They may also have ridges or a thin spoon-like shape.

• Skin changes. The condition causes abnormal changes in skin color. It also causes a distinct lace-like pattern on the chest and neck.

• Patches in the mouth.  This is called oral leukoplakia. Thick, white patches often form inside the mouth.

• Hair changes. The condition often causes premature graying and hair loss.

How is dyskeratosis congenita diagnosed in a child?

Your child's healthcare provider may suspect dyskeratosis congenita based on your child's symptoms. Your child may have blood tests. These may include chromosome tests to look for abnormal DNA and genetic tests to look for gene defects. The results may be normal in some people with this condition.

How is dyskeratosis congenita treated in a child?

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

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

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

What are possible complications of dyskeratosis congenita in a child?

There are many serious complications including:

• Young blood cells show abnormal growth (myelodysplastic syndrome). This often leads to bone marrow failure.

• Bone marrow failure (aplastic anemia)

• Lung scarring or thickening (pulmonary fibrosis)

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

• Bones become weak and brittle (osteoporosis)

• In men, a narrowing of the urethral channel that may cause trouble peeing (urethral stenosis)

• Mouth and gum disorders

• Unable to have children (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're in doubt or if you have questions or concerns, it's best to contact your child's 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 instance, 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 medicine, the provider will tell you what side effects may occur. 

Key points about dyskeratosis congenita in children

• Dyskeratosis congenita is a congenital disease. This means it's present at birth. It affects the skin and nails.

• In its most severe form, it causes bone marrow failure. 

• Symptoms can include nail and skin abnormalities, and white patches in the mouth.

• The first symptoms most often appear in childhood.

• Treatment for severe forms includes anabolic steroid medicine and stem cell transplantation.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

• Know the reason for the visit and what you want to happen.

• Before your visit, write down questions you want answered.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

• Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

• Ask if your child’s condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if your child does not take the medicine or have the test or procedure.

• 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.