Pycnodysostosis is a rare bone dysplasia that causes changes in the facial skeleton. Osteomyelitis is common in patients with this syndrome, and, among the gnathic bones, the mandible is the most commonly affected. This case report describes the treatment of a 46-year-old woman with pycnodysostosis that was associated with chronic suppurative osteomyelitis of 5 years' duration. The patient had no intraoral focus of infection or history of tooth extraction that would explain the clinical findings of pain and a left-sided submandibular fistula. After the patient received 8 days of antibiotic therapy consisting of ceftriaxone and metronidazole, surgical access was achieved through the left submandibular region, and biopsy and curettage of the lesion and excision of the associated fistula were performed. At the 2-year follow-up examination, there was no evidence of lesion recurrence.
Keywords: cathepsin K; osteomyelitis; pycnodysostosis.