Definition

A rare, inherited disorder that can affect many parts of the body, especially the nails, skin, and mouth. It is marked by abnormally shaped fingernails and toenails that may grow poorly; changes in skin color, especially on the neck and chest; and white patches inside the mouth. Other problems may include hair loss or early graying of the hair, eye and dental problems, osteoporosis, joint problems, liver disease, and a narrowing of the urethra (tube that carries urine from the bladder to the outside of the body) in men. People with dyskeratosis congenita may develop serious conditions, such as bone marrow failure, myelodysplastic syndrome, pulmonary fibrosis, and certain types of cancer, especially leukemia and cancers of the head and neck, mouth, anus, and genitals. Dyskeratosis congenita may be caused by mutations (changes) in certain genes that affect the length of telomeres (the ends of chromosomes). Also called DKC.