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osteopetrosis is a rare bone disease , with an estimated prevalence of 1 case in every 20,000 people ( 1 ) .
this disease , caused by metabolic imbalances resulting from genetic mutations , was first reported in 1904 by the german radiologist heinrich albers - schnberg , as reviewed by bollerslev ( 2 ) and garca et al ( 3 ) .
within one of a limited number of reports on this disease , garca et al ( 3 ) demonstrated osteomyelitis of the mandible in a patient with osteopetrosis .
the pathophysiological mechanism of the disease involves an osteoclastic dysfunction that results in an impaired bone resorption ability ; as a result , bone modeling and remodeling are inhibited .
the cortical bone mass is therefore able to increase in density and develop into a hard , marble consistency when the medullary bone is remodelled .
two types of osteopetrosis exist : malignant and benign , categorized based on mortality rate , and disease severity is highly heritable ( 1 ) .
malignant osteopetrosis , or autosomal recessive osteopetrosis has a poor prognosis associated with fatality in infancy .
patients with aro demonstrate a survival rate of 7% , even subsequent to curative treatment such as allogenic hemopoietic stem cell transplantation ( 4 ) .
currently , it is understood that autosomal dominant osteopetrosis ( ado ) is a relatively benign disorder caused by a missense mutation in the clcn7 gene ( 5 ) .
benign osteopetrosis typically has a late onset in children and adults , the symptoms are milder and prognosis is better than in malignant osteopetrosis .
however , curative care is not available for patients with the benign form , thus only supportive care is provided .
osteopetrosis is difficult to treat and can cause complications , such as chronic osteomyelitis and bone fractures , as a result of poor blood supply and iatrogenic fractures . as there is no cure ,
the current study presents a case of chronic mandibular osteomyelitis and a maxillary sinusitis - generated fistula of benign osteopetrosis .
the current recommended treatment options include high - dose systemic antibiotics , debridement of the necrotic region and hyperbaric oxygen ( hbo ) therapy ( 3 ) .
however , the current report describes treatment without the use of high - dose antibiotics or hbo therapy , a justified approach due to the insufficiency of the blood supply to the bone .
treatment of the debrided fistula , which included repeated flushing and cleaning using nasal endoscopy every 2 weeks in the acute infected period , was successful .
therefore , the present study investigated whether the debridement and drainage of pus from fistulas generated by maxillary sinusitis and chronic osteomyelitis is an effective treatment method .
in december 2014 , a 50-year - old chinese female was admitted to the xiamen chang gung hospital ( xiamen , china ) for the evaluation and treatment of chronic purulent nasal discharge in the left side of the nose .
the patient reported that the discharge appeared 3 years previously , following a tooth extraction from the left side of the mouth .
intraoral examination revealed exposed necrotising bone in the left maxillary region , sixth , seventh and eighth tooth agenesis in the upper left side and fistula formation .
the pus had accumulated in the mouth and the left side of the nose in the fistula , generated as a result of maxillary sinusitis .
previous medical history revealed that the patient was diagnosed with osteopetrosis at the age of 19 years old , with six rib , femoral and thoracic vertebra bone fractures ( fig .
1 ) . the patient did not accept any treatment for the osteopetrosis , but was fitted with a plaster cast for 6 weeks .
however , the patient developed splenomegaly due to secondary bone marrow suppression , subsequent to which the spleen was resected .
examination of the patient 's family history revealed that her older sibling was diagnosed with osteopetrosis at the age of 23 years old , but the patient 's child had not developed the disease .
non - contrast computed tomography scans ( ge healthcare life sciences , chalfont , uk ) displayed evidence of low bone density in the posterior left side of the mandible with destruction of the vestibular cortex that was suggestive of a fistula , resulting from chronic osteomyelitis with maxillary sinusitis ( fig .
a bone marrow puncture , hematoxylin and eosin staining and brightfield imaging of these structures were performed .
the medullary cavity was obliterated and the bone marrow was reported to be suppressed , determined by hematoxylin and eosin staining using an olympus bx51 brightfield microscope ( fig .
the sequestra were removed and debridement of the necrotic region was performed via nasal endoscopy , without antibiotics or any other form of treatment a month later , intravenous low - strength antibiotic therapy ( 1 g cefazolin , every 8 h ; mosinter group , ltd . , ningbo , china ) was administered for a week , and the fistula was flushed and drained of pus via nasal endoscopy every 2 weeks . after a week
, the infection had been successfully treated without the necessity of additional antibiotic treatment , chronic osteomyelitis was resolved and the fistula was replaced with fresh granulation after 2 months ( fig .
osteopetrosis is a rare hereditary disease caused by an imbalance in bone metabolism , resulting from decreased osteoclast activity ( 6 ) .
this leads to a lack of bone remodeling , which can result in a high mortality rate in children within the first 10 years of their life ( 6 ) .
early onset osteopetrosis is known as severe infantile malignant autosomal recessive disease , or intermediate mild autosomal recessive disease ( 6 ) .
this condition is typically fatal as a result of anemia with congestive heart failure or sepsis due to bone overgrowing in the bone marrow space . in adults ,
the same disease is known as benign ado with a late onset , and has a lower mortality rate ( 3 ) . at present , the curative treatment for malignant osteopetrosis is allogenic hemopoietic stem cell transplantation ( 4 ) ; however , only supportive care is available for benign osteopetrosis ( 7 )
. therefore , symptom management of benign osteopetrosis is important to increase the patient survival rates .
the present study reported the case of a patient diagnosed with benign osteopetrosis at the age of 19 years , with fractures identified based on presentation and radiology . in benign osteopetrosis ,
the most common complications are chronic osteomyelitis , occurring in 10% of cases involving the mandible ( 3 ) , and bone fractures , in 78% of cases ( 8) . the patient in the current study presented with chronic purulent nasal discharge in the left side of the nose , following tooth extraction from the left side of the mouth 3 years earlier associated with chronic osteomyelitis . since the healing process in the bone is slow , it is difficult to fight and prevent infection in osteopetrosis ( 1 ) . in ado , care must be taken when removing the sequestra , since it is easy to create iatrogenic fractures due to dense bone , which are difficult to repair once the bone is fractured ( 9 ) .
currently , administering a high - dose of systemic antibiotics with debridement of the necrotic region alongside hbo therapy is recommended ( 3 ) .
however , as the patient in the current report presented with insufficient blood supply to the bone due to osteopetrosis , the use of high - dose antibiotics was not suitable . instead , pus from the fistula was flushed and drained via nasal endoscopy every 2 weeks for 1 month , subsequent to careful removal of the sequestra and debridement of the necrotic region .
low dose and intensity antibiotics were administered following debridement , and the infection was cleared .
to the best of our knowledge , this is the first case report indicating that debridement with low doses of antibiotics may be effective in the treatment of osteopetrosis .
notably , patients with osteopetrosis should be aware of good dental care and oral hygiene .
decayed teeth should be endodontically treated and tooth extraction should be avoided , if possible , on the account of necrosis development .
care must therefore be taken when removing the necrotic bone to prevent iatrogenic fractures , which may occur due to inexperience of the surgeon ( 9 ) .
the findings of the present study demonstrated that debridement and drainage of pus from fistulas are important , and possibly a more effective strategy compared with high - dose antibiotic usage alone in osteopetrosis . in conclusion , the complications of osteopetrosis include bone fractures and chronic osteomyelitis , which are difficult to treat . in a patient with osteopetrosis
currently , there is no cure for osteopetrosis and , therefore , symptom management is important to increase the patient survival rates . in the present study
, it was demonstrated that debridement and drainage of pus from fistulas may be more effective than high - dose antibiotic usage in treating osteopetrosis .
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 .