A large buccal hematoma in a patient with Hoyeraal-Hreidarsson syndrome

Timothy W. Neal, Thomas Schlieve

Research output: Contribution to journalArticlepeer-review

Abstract

Hoyeraal-Hreidarsson syndrome (HH) is a rare and severe variant of the inherited bone marrow failure syndrome dyskeratosis congenita (DC). HH often presents in early childhood with progressive bone marrow failure, immunodeficiency, intrauterine growth retardation, and cerebellar hypoplasia. Mortality often occurs early due to pancytopenia. This case report describes a 21-year-old male with Hoyeraal-Hreidarsson that presented with a large buccal hematoma secondary to accidental occlusal trauma while eating. Knowledge of DC and DC related disorders such as HH is useful for dentists and oral and maxillofacial surgeons given the oral and dental pathologies often present in these patients.

Original languageEnglish (US)
Article number100231
JournalOral and Maxillofacial Surgery Cases
Volume7
Issue number4
DOIs
StatePublished - Dec 2021
Externally publishedYes

Keywords

  • Dyskeratosis congenita
  • Hematoma
  • Hoyeraal-hreidarsson syndrome

ASJC Scopus subject areas

  • Surgery
  • Oral Surgery
  • Otorhinolaryngology

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