What are features of dyskeratosis congenital-caused aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Dyskeratosis congenita is characterized by the diagnostic physical triad of dysplastic nails, lacy reticular pigmentation of the upper torso, and oral leukoplakia. However, patients may have dyskeratosis congenita without the triad. The following are also features of this condition:

  • Some signs of premature aging, such as early graying of the hair
  • Progressive bone marrow failure at any age, which can cause any combination of cytopenias, including aplastic anemia
  • Malignancy: Common; frequently MDS or AML; solid tumors such as head and neck cancer or genital cancers can also be seen
  • Pulmonary fibrosis
  • Autosomal dominant, autosomal recessive, and X-linked inheritance patterns; 6 genes are known to cause this disorder

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