Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

J Pediatr. 2000 Mar;136(3):390-3. doi: 10.1067/mpd.2000.104295.


X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.

Publication types

  • Case Reports

MeSH terms

  • Cell Cycle Proteins / genetics
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Dyskeratosis Congenita / complications*
  • Dyskeratosis Congenita / genetics
  • Fetal Growth Retardation / complications*
  • Humans
  • Intellectual Disability / complications*
  • Male
  • Microcephaly / complications*
  • Mutation
  • Nuclear Proteins / genetics
  • Pancytopenia / complications*
  • Syndrome


  • Cell Cycle Proteins
  • DKC1 protein, human
  • Nuclear Proteins