Dyskeratosi congenita

What is Dyskeratosi congenita?

Dyskeratosi congenita meaning Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia). These individuals are vulnerable to disorders that impair bone marrow function. They are also at higher than average risk for myelodysplastic syndrome and leukemia. People with dyskeratosis congenita are also at increased risk of developing leukemia even if they never develop myelodysplastic syndrome. In addition, they have a higher than average risk of developing other cancers, especially cancers of the head, neck, anus, or genitals.


reference: national Cancer Institute – Glossary for Registrars

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