Osteopetrosis is a rare
bone disease caused by metabolic imbalances as a result of genetic mutations. For instance, autosomal dominant
osteopetrosis is caused by a missense mutation of the C1CN7 gene. This was first reported in 1904 and is thought to be caused by osteoclastic dysfunction and an impaired
bone resorption ability. An accumulation of cortical bone mass during the remodeling of the medullary bone may increase the bone density and give rise to a hard marble consistency.
Osteopetrosis can be divided into benign and malignant forms; however, no curative treatment exists for benign
osteopetrosis. The management of complications, such as chronic
osteomyelitis and fractures, serves a key role in influencing the patient survival rates. Previous studies have demonstrated that a combined treatment of hyperbaric
oxygen (HBO) lavage for
debridement of the necrotic region and high-dose systemic
antibiotics may be effective in the management of
osteopetrosis. The present study reported a case of chronic mandible
osteomyelitis and
fistula occurring in association with
maxillary sinusitis, who was successfully treated by through nasal endoscopy, using repeated
flushing and cleaning every 2 weeks as a form of
debridement, in the absence of high-dose
antibiotics and HBO.