1/22. Autosomal dominant osteosclerosis: report of a kindred.Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bone disorder, is a generalized hyperostosis that manifests itself as increased cortical thickening of the skull, mandible, metacarpals, metatarsals, long bones, vertebral bodies, ribs, and clavicles. jaw abnormalities, which clinically resemble the widening and deepening of the mandible seen in cherubism, begin in childhood and have been reported to stabilize after puberty. Teeth and alveolar bone are normal. ADO must be distinguished from Van Buchem's disease, which is characterized by elevated serum alkaline phosphatase, neurologic complications, exopthalmos, periosteal excrescences, and an autosomal recessive pattern of inheritance, as well as from other craniotubular bone disorders such as osteopetrosis. We present clinical and radiographic documentation of members of a kindred representing 4 generations affected with ADO. At initial examination of the proband, a differential diagnosis included cherubism, fibrous dysplasia, osteopetrosis, and Paget's disease. Radiographic examination revealed extensive radiopacity of the inferior border and basal bone of the mandible. The proband's clavicles and humerus were also affected. All family members examined were similarly affected and had mandibular and palatal tori. Authors of a previously published report on the dental and dentoalveolar management of patients with craniotubular bone disorders have recommended prophylactic antibiotics to minimize risk of osteomyelitis in all such cases. The members of our kindred received extensive dental treatment before diagnosis, including extractions of severely carious teeth, preprosthetic dentoalveolar surgery, and endodontic therapy; there was no incidence of osteomyelitis or postsurgical complications. Therefore, the use of prophylactic antibiotics may not be warranted in patients with ADO who have otherwise normal medical histories.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
2/22. Sclerosing osteomyelitis of Garre periostitis ossificans.Sclerosing osteomyelitis of Garre is a rare syndrome; the mandible is the most commonly affected bone segment in the cervicofacial region. This chronic disease is characterized by a nonsuppurative ossifying periostitis with subperiosteal bone formation, commonly reactive to a mild infection or irritation. The differential diagnosis must be made with similar clinical conditions with hard mandibular swelling associated with bony sclerosis. Presumptive diagnosis can be achieved by radiology, but such diagnosis must be confirmed by histology. The aim of therapy is to remove the cause when recognized, aided by an adequate antibiotic therapy. Clinical, radiographic, and histologic features are presented in this case report.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
3/22. Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl.Osteopathia striata with cranial sclerosis (OS-CS) is a rare skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extra-skeletal anomalies. We provide a comprehensive description of the skeletal phenotype in a French-Canadian girl with a moderate to severe form of sporadic OS-CS. Multiple medical problems, including anal stenosis and the Pierre-Robin sequence, were evident in the first few years of life. At 14 years, she was fully mobile, with normal intellect and stature. She suffered chronic lower extremity pain in the absence of fractures, as well as severe headaches, unilateral facial paralysis, and bilateral mixed hearing loss. Biochemical indices of bone and mineral metabolism were within normal limits. Bone densitometry showed increased areal bone mineral density in the skull, trunk, and pelvis, but not in the upper and lower extremities. An iliac bone biopsy specimen revealed an increased amount of trabecular bone. Trabeculae were abnormally thick, but there was no evidence of disturbed bone remodeling. In a cranial bone specimen, multiple layers of periosteal bone were found that covered a compact cortical compartment containing tightly packed haversian canals. Bone lamellation was normal in both the iliac and skull samples. Osteoclast differentiation studies showed that peripheral blood osteoclast precursors from this patient formed functional osteoclasts in vitro. Thus, studies of bone metabolism did not explain why bone mass is increased in most skeletal areas of this patient. Cranial histology points to exuberant periosteal bone formation as a potential cause of the cranial sclerosis.- - - - - - - - - - ranking = 2keywords = tea (Clic here for more details about this article) |
4/22. Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.Cerebellar hypoplasia with endosteal sclerosis is an infrequent entity that has been described in only four cases. Major clinical symptoms are cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, microcephaly, growth retardation, endosteal sclerosis, tooth eruption disturbances, and hip dislocations. We report on a girl with this entity, whom we followed for 11 years. The endosteal sclerosis remained stationary over time, as were the clinical neurological symptoms, but neuroadiological symptoms were slowly progressive. We provide a short review of this probably autosomal recessively inherited disorder. (c) 2005 Wiley-Liss, Inc.- - - - - - - - - - ranking = 7keywords = tea (Clic here for more details about this article) |
5/22. Raine syndrome associated with cytomegalovirus infection.Intracranial calcification, periosteal proliferation and microcephaly, which represent the clinical features of the congenital cytomegalovirus infection, can also be seen in a rare disorder named Raine syndrome. This clinical entity has been reported in eight families so far. Here, we report a new patient with clinical features of the Raine syndrome associated with cytomegalovirus infection. Although this may be a chance association only, the condition raised the question of whether early intrauterine CMV infection may contribute to the Raine phenotype.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
6/22. Radiological appearances following limb replantation: a report of 5 cases.Plain radiographs of the limbs were reviewed after replantation procedures following traumatic amputation in 5 patients at the wrist (2), mid-forearm (2) and knee (1). Following upper limb replantation, rapid development of osteopaenia was initially noted in the juxta-articular regions and metaphyses of the tubular bones of the hand. These changes were followed by diaphyseal cortical bone loss with evidence of subperiosteal, intracortical and endosteal bone resorption. Juxta-articular erosions developed at the margins of the small joints in the hand in all cases. Gradual resolution of bone changes was noted in 3 of the 4 cases where follow-up exceeded 5 years. Following lower limb replantation, there was no evidence of bone loss; however, severe neuropathic joint disease developed within 18 months and progressed over the following 9 years. We suggest that the radiographic changes observed after upper limb replantation reflect regional hyperaemia secondary to neurovascular damage, whilst the changes in the lower limb reflect a similar process in a limb subjected to weight bearing.- - - - - - - - - - ranking = 2keywords = tea (Clic here for more details about this article) |
7/22. periostitis ossificans (Garre's osteomyelitis) radiographic study of two cases.BACKGROUND: periostitis Ossificans (PO) is a non-suppurative type of osteomyelitis, commonly occurring in children and young adults, in mandible. The most common cause for PO is periapical infection of mandibular first molar. Radiographically PO is characterized by the presence of lamellae of newly formed periosteal bone outside the cortex, giving the characteristic appearance of "onion skin". case reports: Two male children 11 years of age reported to the Department of oral medicine with a painless and persistent bony hard swelling in the mandible, with a short duration (Figs 1, 5). Both the patients had grossly decayed mandibular permanent first molar tooth with periapical infection and buccal cortical plate expansion (Figs 2, 6). The radiographic study revealed different appearances, the Orthopantomograph of case I showed a single radiopaque lamella outside the lower cortical border, without altering original mandibular contour (Fig. 3) and in case II showed a newly formed bony enlargement on the outer aspect of the lower cortical border without altering the original mandibular contour (Fig. 7). Occlusal radiograph of both the patients showed two distinct radiopaque lamellae of periosteal bone outside the buccal cortex (Figs 4, 8). Kawai et al. classified PO of mandible into type I and type II, based on whether the original contour of mandible is preserved or not. Each type is further classified into two sub types (Table 1). In case I, the orthopantomographic appearance is characteristic of type I-1 (Fig. 3), but the appearance in occlusal radiograph is characteristic of type I-2 (Fig. 4). In case II, the appearances in both the radiographs are characteristic of type I-2 (Figs 7, 8). CONCLUSIONS: Apart from the typical onion skin appearance, PO shows various other radiographic appearances. The radiographic appearance of periostitis Ossificans may reflect the duration, progression and the mode of healing of the disease process. The radiographic classification of PO depends on the type of radiographs taken for evaluation.- - - - - - - - - - ranking = 2keywords = tea (Clic here for more details about this article) |
8/22. Mixed sclerosing bone dystrophy presenting with upper extremity deformities. A case report and review of the literature.We present a detailed study of a 59-year-old white woman with mixed sclerosing bone dystrophy: the rare occurrence of two or more sclerosing bone dysplasias in a single subject. She exhibited features of osteopoikilosis, osteopathia striata and melorheostosis. The symptoms were primarily the result of the melorheostosis lesions which were distributed within the C6 sclerotome. This is an unusual case of mixed sclerosing bone dystrophy in that the upper extremity was the main site of involvement, instead of the usual symmetrical involvement of all limbs. The patient developed a recalcitrant lateral epicondylitis in the un-involved contralateral elbow that required surgical treatment.- - - - - - - - - - ranking = 1keywords = tea (Clic here for more details about this article) |
9/22. Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome.- - - - - - - - - - ranking = 5keywords = tea (Clic here for more details about this article) |
10/22. Autosomal dominant osteosclerosis.Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria, mandible, shoulder and pelvic girdles, and thoracic cage. Unlike Van Buchem disease, no periosteal excresences are observed, alkaline phosphatase is normal, no basal foramina encroachment of the skull is present, and the genetic pattern is dominant inheritance. These cases possibly represent a separate disorder rather than a variant of Van Buchem disease.- - - - - - - - - - ranking = 2keywords = tea (Clic here for more details about this article) |
| | Next -> |