Dyskeratosis congenita

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Dyskeratosis congenita
TermDyskeratosis congenita
Short definitiondyskeratosis congenita - (pronounced) (dis-KAYR-uh-TOH-sis kun-JEH-nih-tuh) rare, inherited condition that can affect many parts of the body, particularly the nails, skin, and mouth. It is characterized by abnormally shaped fingernails and toenails that can grow poorly; changes in skin color, especially of the neck and chest; and white patches in the mouth. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


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

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