Pycnodysostosis

Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy

“…While the presence of osteosclerosis ruled out cleidocranialdysostosis as a probable diagnosis. Pycnodysostosis patients are prone to osteomyelitis of the jaws following tooth extractions,[ 9 10 11 12 13 14 ] which is due to faulty bone metabolism[ 7 8 ] as a consequence of cathepsin K deficiency in osteoclasts. [ 3 5 6 ] Management of such patients has always remained a challenge as the rare occurrence of this disorder makes establishing and recommending treatment protocols difficult.…”

“…[ 3 5 6 ] Faulty bone metabolism[ 7 8 ] makes these patients susceptible to osteomyelitis of the jaws which can be complicated further by pathologic fractures. [ 9 10 11 12 13 14 ] The management of this condition is complicated and has intrigued surgeons for decades as the treatment options range from surgical debridement of the sequestrum[ 15 ] with concomitant antibiotic therapy followed by surgical correction using a reconstruction plate,[ 11 ] or using a vascularized bone graft[ 14 ] to conservative therapies such as antibiotic coverage, hyperbaric oxygen therapy and simple curettage of the sequestrum. [ 9 11 12 15 ] We report a rare case of Pycnodysostosis with chronic suppurative osteomyelitis of the left body of mandible which was successfully maintained conservatively only with systemic and local antibiotic therapy for 3 years due to “patient's refusal” to surgical intervention.…”

Clinical and radiographic features of pycnodysostosis: A case report

“…Endosteum bone production will gradually increase with the aging process, narrowing the medullary spaces in the jaws and compromising vascularization and, as a consequence of such deficient blood flow; local immune competent cells diminish ( 15 ). Therefore, patients with PYCD are more likely to develop osteomyelitis than patients with normal bone ( 6 , 8 , 16 ).…”

“…The life expectancy for PYCD bearers is considered normal, but bone fractures pose a primary threat to them with this disorder ( 13 ). Therefore, their life style should include special care as for what concerns avoiding risk factors in daily activities ( 14 ), since bone fractures caused by osteosclerosis is frequent in almost 50% of the cases, being, in most of the cases, transverse at the mids-haft of a long bone ( 7 , 8 , 20 ). The risk factors can be categorized depending on the activity the bearers have in their routine, with special remarks for the boys, who are more prone to radical sports.…”

“…The risk factors can be categorized depending on the activity the bearers have in their routine, with special remarks for the boys, who are more prone to radical sports. Nevertheless, mandibular fracture was seen only occasionally ( 8 , 21 ). During the anamnesis, the patient of this case reported a tibial fracture due to trauma.…”