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Madisons Foundation - Moms And Dads In Search Of Needed Support
Dyskeratosis Congenita (DC)
Sunday, 20 July 2003
Last Updated Thursday, 19 May 2005
What
Dyskeratosis congenita (DC) is a genetic disorder characterized by 3 groups of symptoms. The first symptom is hyperpigmentation (darkening of skin color) or hypopigmentation (absence of skin color). The second symptom is a progressive nail dystrophy (abnormal nail formation). The third symptom is a change in the mucous membranes inside of the mouth, eyes, lips, and anus that look like white patches. Additional symptoms that may occur are bone marrow failure and risk of cancer.Who
Dyskeratosis congenita occurs in all ethnicities. This disorder is very rare but over 200 cases have been reported. DC occurs more often in males than females because about 80% of cases are inherited in an X-linked manner. The other forms are autosomal dominant or autosomal recessive and can affect both girls and boys equally.Signs and Symptoms
As mentioned above, DC is characterized by 3 groups of symptoms. The first symptom is hyperpigmentation (darkening of skin color) or hypopigmentation (absence of skin color). There may be a “lacy” rash on the face, neck, chest, and arms. Hyperhidrosis (excessive sweating) of the palms and feet are common signs. The second symptom is a progressive nail dystrophy (abnormal nail formation). The abnormal nail findings become apparent during the child’s first 10 years of life. It usually begins with ridging and splitting, eventually progressing to complete nail loss. Abnormalities of the teeth such as increased dental decay and early loss of teeth are also common. A not so common finding is hair loss. The ophthalmologic (eye) problems include conjunctivitis, loss of eyelashes, cataracts, and vision problems. There may be hearing problems or mental deficiencies. The third symptom is a change in the mucous membranes inside of the mouth, eyes, lips, and anus that look like white patches (called leukoplakia). These are commonly found on the tongue. By the mid-teenage years, more serious complications may begin to appear including bone marrow failure and cancer. Aplastic anemia may develop because of bone marrow failure and occurs in 50% of patients. They may have low red blood cell, white blood cell, and/or platelet counts in the blood. They can be prone to infections. There is a risk for cancer (usually solid tumors) that occurs in 10% of patients.Possible Causes
Dyskeratosis congenita is caused by changes (mutations) in the DKC1 or TERC genes. The DKC1 gene is located on the X chromosome. The TERC gene is located on chromosome 3. Some cases of DC do not have a known cause. Depending on which gene is involved, DC may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.Diagnosis
Diagnosis is based on the characteristic findings suggestive of DC. The diagnosis may be confirmed with genetic testing for the DKC1 or TERC genes.Treatment
: There is no cure for DC. The bone marrow dysfunction found in patients with DC can be improved with androgens (hormones) combined with prednisone (steroids). A bone marrow transplant (BMT) may be an option. However, BMT is not a widely accepted treatment and has many risks that can include severe reactions and even death. Cancers should be treated appropriately if they develop.Prognosis
Individuals with DC can have a relatively normal lifespan. This is limited if they have severe infections, bone marrow failure, or cancer.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Contact a Family
This website is based in the United Kingdom and has a good review of DC, support groups, and resources that inform parents about the difficulties that may lie ahead for dealing DC.
National Cancer Institute: Inherited Bone Marrow Failure Syndromes – DC
A good summary of DC and other disorders like it.
National Foundation for Ectodermal Dysplasias
A great website for ectodermal dysplasias including DC.