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.
- Dyskeratosis congenita
- Hoyeraal-hreidarsson syndrome
ASJC Scopus subject areas
- Oral Surgery