Dyskeratosis congenita

Abstract

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.

Figure 1

The dyskeratosis congenita diagnostic triad. A. Dystrophic fingernails. B. Lacey, reticular pigmentation of the neck and upper chest. C. Oral leukoplakia

Figure 2

Brain MRI of a patient with Hoyeraal-Hreidarsson Syndrome. The arrow indicates the characteristic cerebellar hypoplasia.

Figure 3

Survival of patients with dyskeratosis congenita (DC) based on review of the literature. A: Patients with DC, not including those with Hoyerall Hreidarsson or Revesz Syndromes, B: Hoyerall Hreidarsson Syndrome (HH), C: Revesz Syndrome (RS)