Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature

Am J Pediatr Hematol Oncol. 1992 Nov;14(4):297-304.


Dyskeratosis congenita (DC) is a rare form of ectodermal dysplasia consisting of dystrophic nails, hyperpigmentation, and leukoplakia often associated with aplastic anemia. DC is considered to be an X-linked recessive trait, but affected females suggest genetic heterogeneity. We report an additional female with DC and review the world literature, indicating transmission in X-linked recessive, autosomal recessive, and autosomal dominant manners. The clinical and genetic aspects of DC are heterogeneous, and different patterns of inheritance are associated with distinct clinical manifestations. DC should be considered in the diagnosis of a patient with any features of the syndrome regardless of gender. Conversely, DC should be considered in patients with aplastic anemia at any age.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adolescent
  • Anemia, Aplastic / drug therapy
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Female
  • Genes, Recessive / genetics
  • Genetic Linkage*
  • Humans
  • X Chromosome*