Dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.

Signs and Symptoms

Patients with DC may present with the classic triad of mucocutaneous features: skin pigmentation changes, nail dystrophy, and oral leukoplakia. Other symptoms may include bone marrow failure, pulmonary fibrosis, liver disease, and a variety of other symptoms.

Causes

DC is caused by a mutation in one of at least seven different genes. It is usually inherited in an X-linked recessive manner, but autosomal dominant and autosomal recessive inheritance have also been reported.

Diagnosis

The diagnosis of DC is established by the presence of the classic triad of physical findings and by the family history. Genetic testing can confirm the diagnosis.

Treatment

Treatment of DC involves managing the symptoms and complications. This may include androgen therapy, bone marrow transplantation, and supportive care.

Prognosis

The prognosis for individuals with DC varies. Many individuals with DC have a shortened lifespan due to complications from bone marrow failure, infections, and malignancy.

See Also

• Bone marrow failure
• Pulmonary fibrosis
• Liver disease

References

Dyskeratosis congenita Resources
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