Dyskeratosis congenita: Clinical and genetic heterogeneity report of a new case and review of the literature

Richard A. Drachtman, Blanche P. Alter

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)297-304
Number of pages8
JournalJournal of Pediatric Hematology/Oncology
Issue number4
StatePublished - 1992
Externally publishedYes



  • Aplastic anemia
  • Dyskeratosis
  • Genetics

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Pediatrics, Perinatology, and Child Health

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