Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype

Pediatr Dermatol. 2015 Nov-Dec;32(6):e263-6. doi: 10.1111/pde.12693. Epub 2015 Oct 8.


Hoyeraal-Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. We present a Libyan boy with hematologic and neurologic abnormalities with typical dermatologic manifestations of dyskeratosis congenita. Death usually occurs before the age of 4 years as a result of pancytopenia or malignant transformation of mucocutaneous lesions. The boy presented survived longer than 5 years. Early recognition and appropriate genetic counseling are crucial because of the high mortality of this genetic disorder.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Dyskeratosis Congenita / diagnosis*
  • Dyskeratosis Congenita / genetics
  • Fetal Growth Retardation / diagnosis*
  • Fetal Growth Retardation / genetics
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / diagnosis*
  • Microcephaly / genetics
  • Phenotype
  • Telomere / genetics

Supplementary concepts

  • Hoyeraal Hreidarsson syndrome