A Family Guide to Non-Oncologic Blood Disorders
Dyskeratosis Congenita
What is dyskeratosis congenita? Dyskeratosis congenita is a rare bone marrow disorder. It is a genetic disease, which means it is usually inherited, or passed on in a family. Dyskeratosis congenita can affect many different parts of your child’s body. Dyskeratosis congenita is caused by a change in genes. Some- times this change happens in a child with dyskeratosis con- genita whose parents did not pass on the affected genes. Most often, though, the genes that are not working correctly are passed to children by their parents. Some parents of children with dyskeratosis congenita may have the disease, but might not show obvious signs of it. The following are the most common symptoms of dyskeratosis congenita. However, each child may experience symptoms differently. Symptoms may include: • A lacy-looking rash on the face, neck, and chest • White patches in the mouth • Abnormally shaped fingernails and toenails Patients with dyskeratosis congenita are more likely to develop other health problems, such as: • Bone marrow failure • Lung problems
How is dyskeratosis congenita diagnosed? • A complete medical history • Thorough physical exam looking for signs of dyskerato- sis congenita • Complete testing to look at how the body is functioning What tests and procedures will my child need? • Complete blood count looking at the number of each kind of blood cell • A saliva or spit test to look at the genes • A blood test that looks at the chromosomes to deter- mine if genes look short. Many times the genes in a patient with dyskeratosis congenita are shorter than normal. What are the treatment options for dyskeratosis congenita? Due to the complexity of dyskeratosis congenita, it is a chal- lenging disease to manage. Symptoms can be managed with medications as indicated for the parts of the body involved. Medicines such as steroids are given to help the body make more blood cells. Bone marrow failure associated with dys- keratosis congenita is treated with hematopoietic stem cell transplant. Your medical team will determine the best treatment plan for your child. How successful is the treatment? The only curative option for bone marrow failure is hematopoi- etic stem cell transplant.
• Low bone density • Digestive diseases
• Immunologic diseases (disorders of the immune sytem) • Cancers of the tongue, mouth, throat, stomach, colon, and rectum • Cancers of the blood and bone marrow
Stem Cell Transplant Indications • Bone marrow failure
Dyskeratosis Congenita
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