1/154. 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 = sclerosis (Clic here for more details about this article) |
2/154. osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
3/154. Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth.A ten-year-old boy, who had the typical dental findings of dysosteosclerosis such as yellowish, hypoplastic teeth, retarded eruption, which upon eruption, decayed rapidly, is presented. To date this is the first known case reported with a congenital absence of the first permanent molars. Furthermore, SEM evaluation of the enamel and dentin was performed on a tooth from a patient with dysosteosclerosis for the first time. These studies showed weak ultrastructural compositions due to irregular calcification.- - - - - - - - - - ranking = 1.2keywords = sclerosis (Clic here for more details about this article) |
4/154. Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. The main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, including this one. Histopathological study of the bones confirmed the advanced skeletal maturation radiological features. We also review this rare lethal osteochondrodysplasia.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
5/154. Erdheim Chester disease: a rare cause of knee and leg pain.A case of Erdheim Chester disease in a 51-year-old Turkish patient is described. Erdheim Chester disease is a rare form of lipoid granulomatosis. knee and leg pain are the most common symptoms, and physicians working in orthopaedics and traumatology are the first to be consulted. Our patient demonstrated a typical bilateral, symmetric sclerosis of the metaphyseal region of long bones of the lower extremity, histologic examination revealed foamy, lipid-loaded histiocytes. The patient also suffered from arterial hypertension, diabetes insipidus and exophthalmos of the left eye. The diagnosis was confirmed by a bone biopsy, and the patient was treated with non-steroidal anti-inflammatory drugs, corticosteroids and vincristine.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
6/154. Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, 'classical' form, and type II: a less severe form.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
7/154. Enlargement of mandibular canal without hypesthesia caused by extranodal non-Hodgkin's lymphoma: a case report.A rare condition of enlargement of the mandibular canal caused by an extra-nodal non-Hodgkin's lymphoma in a 59-year-old Japanese woman was reported. The patient had a swelling of the hard palate and protrusion of both ocular bulbs, which had been present for 10 years. A panoramic radiograph revealed that the right mandibular canal was widely enlarged, extending from the mandibular foramen to the mental foramen, without bone destruction. The continuous dilation of the mandibular canal to an approximate 15-mm width was associated with peripheral bony sclerosis. Computed tomography and magnetic resonance imaging showed a soft tissue tumor inside the mandibular canal. The lesion demonstrated expansive growth in the orbits, extending to the skull base through the superior orbital fissures and cavernous sinus. The lymphoma was suspected to have grown so slowly that the adjacent mandibular canal and ocular bulbs enlarged without destroying the normal bone and nervous tissue.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
8/154. Raine dysplasia: a Brazilian case with a mild radiological involvement.We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
9/154. Monostotic fibrous dysplasia of the sphenoid sinus: a serendipitous finding on a bone scan.A 22-year-old woman had a Tc-99m MDP whole-body scan for low back pain. A focal area of increased activity was seen in the skull base in the region of the sella turcica. A computed tomographic examination showed ground-glass opacification of the sphenoid sinus and bony sclerosis along its walls, characteristic of fibrous dysplasia. Monostotic fibrous dysplasia, the more common form compared with the polyostotic variety, occurs in 70% to 80% of all patients with fibrous dysplasia. Monostotic lesions usually involve the ribs, femur, tibia, cranium, maxilla, and mandible. The frontal and sphenoid bones are the cranial bones most commonly involved.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
10/154. erdheim-chester disease with intramuscular lipogranuloma.We report on a rare manifestation of erdheim-chester disease with intramuscular lipogranuloma. The patient was a 66-year-old man who noted a soft tissue mass in the right quadriceps femoris muscle. Radiographs revealed symmetrical osteosclerosis in the diametaphysis of both femora and tibiae. An open biopsy revealed a proliferation of lipid-laden histiocytes in the femoral bone marrow and the quadriceps femoris muscle. To our knowledge, this is the second case of erdheim-chester disease involving muscle.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
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