No abstract available.
Multiple Myeloma* ; Osteosclerosis*

BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. METHODS: We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. RESULTS: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software. CONCLUSION: We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
Aged ; Exome ; Female* ; Humans ; Korea ; Leukocytes ; Mutation, Missense ; Osteoclasts ; Osteopetrosis* ; Osteosclerosis ; Pelvis ; Skeleton ; Skull ; Spine

Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
Anemia ; Brain ; Child ; Congenital Abnormalities ; Female ; Humans ; Hydrocephalus* ; Infant ; Korea ; Magnetic Resonance Imaging ; Osteopetrosis* ; Osteoporosis ; Osteosclerosis ; Rare Diseases ; Rickets* ; Skull

Intramedullary osteosclerosis is an uncommon benign condition characterized by endosteal new bone formation in long tubular bone of lower extremity and treatment as well as etiology is unknown. Due to the rarity of this disease, and because there is no specific clinical finding except leg pain, it is difficult to differentiate this entity from other causes presenting similar symptoms. We report on a case of intramedullary osteosclerosis mistaken for radiculopathy from lumbar disease with a review of the literature.
Leg* ; Lower Extremity ; Osteogenesis ; Osteosclerosis* ; Radiculopathy

Osteopetrosis is a rare bone disease characterized by systemic osteosclerosis due to an osteoclast dysfunction that decreases bone resorption. This report demonstrates two cases of adult osteopetrosis with secondary osteomyelitis of the maxilla, in siblings who are 43-year old female and 55-year old, male respectively. The common radiographic features of these cases were increased radiopacity in skull, rib and vertebra. The radiographic features that differed between these two cases were the osteosclerotic pattern of the jaw bones, that is, diffuse patterns in the female case, while the male case showed nodular patterns that were confined to the root apices. The diagnosis of osteopetrosis may be complicated due to the varying degree of osteosclerosis on panoramic radiograph. Additional radiographs such as the chest and skull radiograph may be helpful for the diagnosis of osteopetrosis.
Adult ; Bone Diseases ; Bone Resorption ; Female ; Humans ; Jaw ; Male ; Maxilla ; Osteoclasts ; Osteomyelitis ; Osteopetrosis ; Osteosclerosis ; Radiography, Panoramic ; Ribs ; Siblings ; Skull ; Spine ; Thorax

Osteopetrosis is a rare hereditary skeletal disorder characterized by a marked increase in bone density resulting from the abnormality in bone remodeling. Radiographically, there are widespread increase in skeletal density and the loss of distinction between cortical and cancellous bone. In addition to exhibiting widespread osteosclerosis, osteopetrosis may manifest hematologic and neurologic disorders. Clinically, these patients have susceptibility to anemia, infection, and so on. There is no specific therapy for osteopetrosis. Supportive therapy such as transfusion and control of infections could be done. We report a case of the osteopetrosis developing osteomyelitis of the maxilla with suppuration and facial swelling.]]>
Anemia ; Bone Density ; Bone Remodeling ; Humans ; Latency Period (Psychology) ; Mandible ; Maxilla ; Nervous System Diseases ; Osteogenesis ; Osteogenesis, Distraction ; Osteomyelitis ; Osteopetrosis ; Osteosclerosis ; Osteotomy ; Rabbits ; Suppuration ; Tissue Adhesives ; Tissue Engineering

PURPOSE: To assess the clinical findings and hard tissue changes of osteomyelitis of the jaws using computed tomographic (CT) image analysis. MATERIALS AND METHODS: We reviewed and interpreted the CT images of 163 patients (64 males and 99 females, age range from 10 to 87 years) who visited the Seoul National University Dental Hospital from April 23, 2006 to December 31, 2008 and were diagnosed as osteomyelitis of the jaws through clinical, radiologic, and histopathologic examination. Each CT findings was investigated for frequency, correlation with age and gender. RESULTS: Of the 163 patients, 31 (19.0%) were affected on the maxilla, 135 (82.8%) were affected on the mandible, and 3 (1.8%) were affected on the both jaws simultaneously. The mean age of the patients who were affected on the maxilla was 61.0 years and that of the patients who were affected on the mandible was 56.2 years. On the maxilla, the most frequent site of disease was the posterior area (83.9%) and on the mandible, mandibular body (83.0%), followed by angle (48.1%), ramus (38.5%), condyle (13.3%), incisal area (9.6%), and coronoid process (3.0%). Among the 31 maxillary osteomyelitis, defect in the trabecular bone was observed in 28 (90.3%), osteosclerosis 20 (64.5%), defect in the cortical bone 27 (87.1%), sequestrum 17 (54.8%), and periosteal reaction 2 (6.5%). Among the 135 mandibular osteomyelitis, defect in the trabecular bone was observed in 100 (74.1%), osteosclerosis 104 (77.0%), defect in the cortical bone 116 (85.9%), sequestrum 36 (26.7%), and periosteal reaction 67 (49.6%). CONCLUSION: Of our cases, the maxillary osteomyelitis was visibly observed more frequently in females than males. The incidence is the highest in seventies (28.8%) and the lowest in teens (3.1%). The osteomyelitis of the jaws was observed more frequently in males than females before the age of 50, and observed more frequently in females after the age of 50. The most noticeable point was that the sequestrum was observed more often on maxillary osteomyelitis and the periosteal reaction was observed more often on mandibular osteomyelitis.
Adolescent ; Female ; Humans ; Incidence ; Jaw ; Male ; Mandible ; Maxilla ; Osteomyelitis ; Osteosclerosis

A 42-year-old man with Erdheim-Chester disease (EC) is presented. This is the first case of this disease reported in Korea. The patient complained of knee pain and plain roentgenogram of the bilateral legs revealed diffusely increased density, coarsened trabecular pattern, and cortical thickening in the diaphysis, and metaphysis as well as epiphysis. Magnetic resonance imaging revealed that the lesions showed low signal intensity on T1-weighted images and heterogeneously low and high signal intensity on T2-weighted images. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting aggregations of foamy histiocytes and Touton-type giant cells. Immunohistochemical staining showed positive reaction to anti-S-100 and lysozyme in the cytoplasm of the giant cells.
Adult ; Bone Marrow/pathology ; Case Report ; Histiocytosis/pathology* ; Human ; Knee/radiography ; Knee/pathology ; Magnetic Resonance Imaging ; Male ; Osteosclerosis/radiography ; Osteosclerosis/pathology

Bone marrow involvement in Hodgkin`s lymphoma is not rare at initial diagnosis and is associated with a poor prognosis. Atypical findings such as granuloma, eosinophilia or osteosclerosis may lead to diagnostic confusion, in which case immunohistochemistry may be helpful. We report a case of 25-year old male patient, who presented with back pain, subsequently had a mediastinal mass and was finally diagnosed as having stage IV Hodgkin`s lymphoma. Bone marrow involvement with severe osteosclerosis was found on bone marrow biopsy specimens. He received systemic chemotherapy and was discharged with improved clinical symptoms.
Back Pain ; Biopsy ; Bone Marrow* ; Diagnosis ; Drug Therapy ; Eosinophilia ; Granuloma ; Humans ; Immunohistochemistry ; Lymphoma* ; Male ; Osteosclerosis* ; Prognosis

Measurement of bone mineral density(BMD) of the spine may be affected by the presence of various factors such as osteophytes, osteosclerosis and spinal deformity, particularly in elderly persons. Therefore the accurate evaluation for osteoporosis is difficult in osteoarthritic spine and until now no technique can evaluate true mineral density of the osteoarthritic spine. So we performed this study to evaluate the effect of osteoarthritic changes of the spine on the BMD and various BMD values such as young-adult% and age-matched%. Additionally we evaluated the diagnostic value of the Singhs index in the advanced osteoporotic spine. We reviewed 50 patients with advanced osteoporosis of the spine retrospectively and they were divided into two groups; one consisted of 22 patients with osteoporosis alone and the other consisted of 28 patients with osteoporosis and osteoarthritic change on the spine. The measured mean BMD value in AP plane and that expressed in relation to reference data for young adults(young-adult%) of the patients with arthritic and osteoporotic spine were significantly higher than those of the patients with osteoporosis alone. On the other hand, values expressed in relation to the age and sex matched mean reference data(age-matched%) were not significantly higher in group of patients with osteoporosis and osteoarthritic change, and Singh s index was not diagnostic for the osteoporosis of the spine. But young-adult% were significantly lower than agematched% even in the osteoarthritic group. We concluded that young-adult% is mare useful value for diagnosis of the advanced osteoporosis in the osteoarthritic spine.
Aged ; Bone Density* ; Congenital Abnormalities ; Diagnosis ; Hand ; Humans ; Osteoarthritis* ; Osteophyte ; Osteoporosis ; Osteosclerosis ; Retrospective Studies ; Spine*