恶性婴儿型石骨症伴下颌骨骨髓炎1例报告及文献复习

石骨症是一种罕见的先天性遗传疾病,其发病特征为破骨细胞受损导致的全身骨密度增加。常染色体隐性遗传恶性石骨症又称为恶性婴儿型石骨症,其发病率约为1/300000。本文报告1例恶性婴儿型石骨症伴下颌骨骨髓炎病例,并结合文献对石骨症的发病机制、临床表现、影像学表现及治疗等进行综述。     

Marble bone disease: a review of osteopetrosis and its oral health implications for dentists

Osteopetrosis is one cause of osteosclerosis and may result in such serious oral complications as osteomyelitis and exposed necrotic bone. Dentists should be aware of patients with the disease because of its effect on osteoclast function, which results in impaired wound healing. The purpose of this paper is to review the causes, pathogenesis and differential diagnosis of osteopetrosis and to provide guidance to dentists on the management of patients with osteopetrosis.     

Unusual case of hypercondensing malignant osteodysplasty: osteopetrosis

Osteopetrosis, known also as Albers-Schonberg disease, is a genetic disorder causing a generalized sclerosis of the bones and the reduction of the marrow. The diagnosis is often secondary to pathologic processes and its usually observed through specific X-ray researches. The principal cause of osteopetrosis is to attribute to a deficit of bone resorption and remodelling. Osteomyelitis is a complication of osteopetrosis. The purpose of this article is based on several point: 1) to know the cause of osteopetrosis, then to classify and check it; 2) to present the case who did not respond to of a patient with osteopetrosis complicated by maxillary and phalanx osteomyelitis common therapies and give an accurate analysis.     

Osteopetrosis of the jaws

Osteopetrosis is a rare hereditary condition characterized by increased bone density. The jaws, bones, and teeth invariably are affected and the osteopetrosis is directly proportional with the severity of the disease. This article describes a clinical case of osteopetrosis and reviews the clinicopathologic, radiographic, and treatment features.     

Dental management in autosomal recessive (intermediate) osteopetrosis: a case report

Osteopetrosis (Albers-Schonberg disease) is the name given to a group of diseases that affect the growth and remodeling of bones. It is characterized by overgrowth and sclerosis of bone, resulting in thickening and narrowing of the marrow cavities throughout the skeleton. The exact cause is unknown, although failure of bone resorption related to defective osteoclasts is considered to be the basis of the problem. These patients present a significant challenge to the dentist for management of jaw and dental problems, as the disease process demands special strategies which are often at variance with conventional dentistry. The purpose of this paper was to report the management and follow-up of a child with intermediate autosomal recessive osteopetrosis who primarily complained of dental problems.     

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

Osteopetrosis is a group of genetic bone disorders. There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO). The prevalence of ADO II is about 1:100,000, while no more than 20 cases of IARO have been reported worldwide. We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp). In addition to general osteosclerosis, the striking features of these two patients are unerupted teeth with root dysplasia. We speculate that ClC-7 in different tooth cells may contribute directly to the root development, the defect of ClC-7 may have a dose dependent effect on the phenotype of root dysplasia, and the tooth position may also affect the root phenotype with dysfunctional ClC-7.     

石骨症伴下颌骨骨髓炎1例报告及文献复习

石骨症是一种少见的先天性骨发育障碍性疾病，作者报告1例石骨症伴下颌骨骨髓炎病例，并结合文献对石骨症的发病机制、临床分型、口腔颌面部表现以及石骨症伴下颁骨骨髓炎的治疗等问题进行讨论。     

Osteopetrosis. Classification, etiology, treatment options and implications for oral health

Bone is continuously remodelled to maintain its strength and structural integrity. Remodelling is the result of an equilibrium between bone formation performed by osteoblasts and bone resorption performed by osteoclasts. In osteopetrosis this equilibrium is disturbed by a defect in the osteoclastogenesis or by disfunction of osteoclasts. Osteopetrosis is divided into four types: malignant infantile osteopetrosis, intermediate osteopetrosis, and two types of autosomal osteopetrosis. Malignant infantile osteopetrosis is usually diagnosed within the first year of birth by bone sclerosis and bone marrow obliteration. This type is very severe and usually results in death within a few years. The intermediate type usually appears before the age of ten and leads to recurrent pathologic fractures and cranial nerve compression. Autosomal dominant osteopetrosis is usually mild and consists of two sybtypes. Type I involves marked thickening of the cranial vault. Type II patients have predominantly sclerosis of the pelvis, the vertebrae and the base of the skull. Type I and II patients may often be long-lasting asymptomatic, but will eventually present with pathologic fractures, bone pain, and the effects of cranial nerve compression. Oral problems of osteopetrosis are delayed tooth eruption, absence of some teeth, malformed teeth, enamel hypoplasia, disturbed dentinogenesis, hypomineralisation of enamel and dentin, propensity for tooth decay, defects of the periodontal membrane, thickened lamina dura, mandibular protrusion, and the presence of odontomas. Tooth removal should be limited as it may induce bone fractures and osteomyelitis.     

Surgical correction of craniosynostosis in malignant osteopetrosis

In osteopetrosis, bone healing is complicated by progressive sclerosis. A 2-year-old blind boy with malignant osteopetrosis developed increased intracranial pressure secondary to craniosynostosis. Osteopetrosis had already been treated with bone marrow transplantation (BMT), and bone remodeling seemed to be restored. A craniotomy was performed. The postoperative course and bone healing were uneventful. After successful BMT, craniofacial procedures seem to be possible without a high risk for osteomyelitis.     

Autosomal recessive osteopetrosis: case report of two siblings

Malignant osteopetrosis is a rare congenital disorder of bone resorption, occurring in less than 1 in 200 000 births. It is caused by the failure of osteoclasts to resorb immature bone. We report on two siblings with autosomal recessive osteopetrosis. The prominent clinical features were short stature, progressive blindness, defective development of primary and permanent teeth, and anemia.     

Case of osteopetrosis with multiple impacted primary and permanent teeth diagnosed at eight years old

BackgroundOsteopetrosis is a rare skeletal disease characterized by increased bone density caused by a malfunction of osteoclasts.Case presentationAn 8-year-4-month-old girl with multiple primary and permanent tooth impaction was diagnosed with osteopetrosis. In spite of typical manifestations of osteopetrosis in early childhood, including visual and hearing impairments, short stature, and dental abnormalities, diagnosis was severely delayed.ConclusionMultiple impacted teeth may indicate a possible diagnosis of osteopetrosis. Dentists should perform an orthopantomography examination when eruption disturbances are encountered and systemic disease should also be suspected, with referral to a pediatrician when necessary.     

A successful implant-supported fixed prosthesis in a patient with osteopetrosis: A clinical report

Osteopetrosis (marble bone disease) is a family of rare genetic disorders characterized by impaired osteoclast function leading to hyperdense, hypovascular, brittle bone. Typical imaging shows increased bone mass and thickened cortical and trabecular bone. Bones are more prone to fracture and osteomyelitis may develop. When considering dental implant placement in a patient with osteopetrosis, the potential for bony fracture and/or osteomyelitis should be considered along with the decreased likelihood of successful osseointegration because of hypovascularity. This clinical report describes an unusual imaging presentation and successful osseointegration of multiple dental implants supporting an implant-supported fixed mandibular prosthesis with long-term survival.     

Osteomyelitis of the mandible associated with autosomal dominant osteopetrosis: a case report

Osteopetrosis is a rare hereditary bone disorder presenting with variable clinical features and is characterized by an increase in bone density. The main clinical findings of the benign-type of osteopetrosis (autosomal dominant) are fractures and osteomyelitis of the mandible, leading to the detection of the disease. We report a case of autosomal dominant osteopetrosis with secondary mandibular osteomyelitis. Clinical and radiological patterns and treatment evaluation were assessed. The patient was referred for evaluation and treatment of an acute abscess in the left side of the face and osteomyelitis of the mandible. Several imaging studies were performed to assess the lesion and the adjacent bone and soft tissue structures. Treatment consisted of intravenous antibiotic therapy, debridement of the necrotic bone and sequestrum, and extra-oral drainage of the abscess, with submandibular access. Healing was uneventful.     

Maxillary osteomyelitis associated with osteopetrosis: Systematic review

Osteopetrosis is a rare condition which presents increased bone density and deficient bone remodeling. The consequential complications include cranial nerve impairment due compression, bone fractures, and osteomyelitis. Maxillary osteomyelitis is uncommon even in osteopetrosis patients. This is a systematic review of the literature regarding the management and outcomes of maxillary osteomyelitis in patients with autosomal dominant osteopetrosis (ADO) type II. A case of this specific pathology is reported. There are 18 cases of maxillary osteomyelitis associated with ADO type II reported in the literature. The mean age of the patients reported was 33.5 (SD 15.9) years, and the male:female ratio was 1:1. Antibiotic therapy was variable, and amoxicillin with clavulanic acid was the main choice (33.33%). Surgery or sequestrectomy was performed in 88.89% of the studies. Complete healing was achieved in only 44.4% of cases. The treatment protocols remain controversial and often do not lead to complete healing. In the case that we report, complete healing was achieved after prolonged antibiotic therapy, hyperbaric oxygen therapy, and partial resection. In conclusion, the management of maxillary osteomyelitis in ADO type II patients is challenging, and complete resolution of the process is dependent on multiple interventions.     

Osteomyelitis of the Mandible in a Patient with Osteopetrosis. Case Report and Review of the Literature

Osteopetrosis is a rare hereditary bone disorder presenting with variable clinical features and is characterized by an increase in bone density and reduction of marrow spaces that result from a defect in the function of osteoclasts and, consequently, a decrease in bone turnover. This disease is generally divided into three types: severe infantile malignant autosomal recessive, intermediate mild autosomal recessive, and benign autosomal dominant. The prognosis of the first two types is very poor and is characterized by an early onset, usually within the first decade of life, and early death. The benign-type is characterized by a later onset and a longer life span. Ten percent of osteopetrosis cases develop osteomyelitis that usually involves the mandible. The osteomyelitis is generally caused by tooth extraction or pulpal necrosis. The leading cause of the increased rate of infection is thought to be a lack of adequate bone vasculature. Treatment of osteomyelitis secondary to osteopetrosis is controversial. Treatment regimens include high-dose systemic antibiotics coupled with thorough debridement of necrotic bone and primary closure of soft tissues, if possible. Hyperbaric oxygen has been used for the treatment of chronic osteomyelitis.     

Orthognathic surgery in pycnodysostosis: a case report

Pycnodysostosis is an extremely rare genetic osteosclerosis caused by cathepsin K deficiency. It is a human autosomal recessive genetic disorder characterized mainly by osteosclerosis of the skeleton due to decreased bone turnover. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis. Multiple fractures of the long bones and osteomyelitis of the jaw are frequent complications. The authors describe an 18-year-old girl with a clinical and radiological diagnosis of pycnodysostosis and the ortho-surgical treatment undertaken. Bimaxillary orthognathic surgery was carried out using rigid fixation and bone grafts. The authors recommend bimaxillary orthognathic surgery as a choice for treating the dentofacial deformities of pycnodysostosis, emphasizing the good and stable results obtained in terms of facial aesthetics and occlusion.     

Relationship of abnormalities in dental and skeletal development in the osteopetrotic (os) rabbit

Osteopetrosis is a metabolic bone disease characterized by reduced bone resorption of heterogenous cause. The rabbit mutation is lethal and exhibits ultrastructural aberrations in osteoclasts and osteoblasts together with hypocalcemia, hypophosphatemia and failure to be cured by bone marrow transplantation. We have studied dental abnormalities in mutants from birth to 3 wk using radiographic, cytologic and autoradiographic methods. Radiographs show hypoplasia of most teeth in mutants. The maxillary incisor is smaller and more curved and the mandibular incisor thin and straight compared to normal littermates. The first 3 molars in both arches are unerupted and of distorted shape while the last 2 are less affected. Microscopically areas of ankylosis of mutant incisors and the first 3 molars were commonly encountered even at birth. Osteoclasts were numerous. Autoradiograms of 3H-proline incorporation showed strong periosteal and weak endosteal labeling of bone in both mutants and normal littermates. Dentin labeling in mutant incisors and molars was not less than that in normal rabbits and sites of ankylosis in mutants exhibited labeling. These data indicate that osteopetrotic rabbits exhibit major aberrations in shape and eruption of incisors and most molars and that these effects are not due to lack of dentin formation. Early ankylosis, perhaps secondary to congenital reduction of bone resorption, appears to be the major cause of the dental abnormalities which are less severe in the youngest (posterior) teeth.     

Marginal resection for treatment of mandibular osteomyelitis associated with osteopetrosis: Case report

Osteopetrosis (OP) is a rare hereditary disorder characterized by a dysfunction of the osteoclasts that impairs bone resorption, which together with the normal osteoblastic activity forms intense bone sclerosis with reduction of marrow. A common complication that arises, most frequently, as a result of tooth extraction is mandibular osteomyelitis. There is no consensus on the literature about the treatment of this infection in an osteopetrotic patient, therefore, the purpose of this paper is to report a case of marginal resection for treatment of mandibular osteomyelitis in an osteopetrotic patient and discuss relevant features of this procedure.     

先天性齿槽突裂整复的初步报告

目的 应用自体髂松质骨髓颗粒移植整复齿槽突裂,并观察其初期临床效果。方法 9例单侧上颌齿槽突裂,术前正畸,用自体髂松质骨髓颗粒移植整复裂隙,并关闭口鼻瘘。结果 9例伤口一期愈合,术后观查3～6月,外观明显改善,x线检查移植骨无明显吸收,骨密度近似正常骨组织,两者间无明显界限。结论 自体髂松质骨髓颗粒整复先天性齿槽突裂,临床效果可靠。