Dyskeratosis Congenita

Epidemiology

  • Rare disorder
  • Most cases are males

Physiology

  • X-Linked Inheritance (probably): mutations in genes encoding for telomere or telomerase have been found in 50% of cases
    • Telomere length is involved in cell division: shortened telomere length (due to aging or inherited abnormalities) leads to cell senescence

Diagnosis

  • CBC
    • Cytopenias
    • Aplastic anemia

Clinical Presentations

  • Interstitial Lung Disease (see [[Interstitial Lung Disease-Etiology]])
  • Nail Dystrophy
  • Skin Pigmentation
  • Oral Leukoplakia

Treatment

  • Bone Marrow Transplantation: has been used

Prognosis

  • 11% die from pulmonary complications + 11% die from pulmonary complications of bone marrow transplant

References

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