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

Cleidocranial Dysplasia ; pathology ; Diagnosis, Differential ; Dwarfism ; Humans ; Maxillofacial Abnormalities ; Osteosclerosis ; pathology ; Pycnodysostosis ; diagnostic imaging ; etiology ; pathology ; therapy ; Radiography ; Tooth Abnormalities

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

PURPOSE: This retrospective study was performed to investigate the prevalence of the idiopathic osteosclerosis (IO) in Korean malocclusion patients according to age, sex, and the Angle's classification of malocclusion. MATERIALS AND METHODS: This study consisted of 2,001 randomly selected patients from the Department of Orthodontics at the Gangneung-Wonju National University Dental Hospital, Korea. The prevalence of IO in Korean malocclusion patients was recorded using their panoramic radiographs, and the following parameters were surveyed; age, sex, and the Angle's classification of malocclusion. The chi-square test was analyzed to determine the statistical significance of differences in the prevalence of IO between age, sex, and the Angle's classification of malocclusion. RESULTS: The prevalence of IO in the jaws was 6.7% in a total of 2,001 examined orthodontic patients. The majority of IO was found in the mandible (96.58%). The 30-39 age group showed the highest prevalence of IO (9.60%). There was a higher prevalence in females (6.89%) than in males (6.45%). The prevalence of IO in Angle Class I group (7.07%) was the most frequent, followed by Angle Class II group (6.72%), and Angle Class III group (6.40%). However, there was no statistical significance in sex and Angle's classification of malocclusion. CONCLUSION: The prevalence of IO in malocclusion patients showed the differences between various age groups and most of them were found in the mandibular posterior area. However, sex and the type of malocclusion are not to be considered as a contributing factor of IO.
Female ; Humans ; Jaw ; Korea ; Male ; Malocclusion ; Malocclusion, Angle Class I ; Malocclusion, Angle Class II ; Malocclusion, Angle Class III ; Mandible ; Orthodontics ; Osteosclerosis ; Prevalence ; Radiography, Panoramic ; Retrospective Studies

Pycnodysostosis is an autosomal recessive disorder characterized by osteosclerosis, small stature, acro-osteolysis of the distal phalanges, loss of the mandibular angle, separated cranial sutures with open fontanels, and frequent fractures. One identified cause of the disease is reduced activity of the cysteine protease cathepsin K. A 48-year-old woman with a history of frequent fractures presented with a severe gait disturbance. Radiography, computed tomography, magnetic resonance imaging, and gene analysis were performed. Physical examination revealed open fontanels, and radiographs showed increased bone density. DNA sequence analysis revealed a deletion mutation of the cathepsin K gene. We diagnosed pycnodysostosis based on these findings. The magnetic resonance and computed tomography images demonstrated multilevel spinal canal stenosis due to ossification of the yellow ligament. We performed a laminectomy, and the patient's neurological signs and symptoms improved. To our knowledge, this is the first case of pycnodysostosis with ossification of the yellow ligament.
Acro-Osteolysis ; Bone Density ; Cathepsin K ; Constriction, Pathologic* ; Cranial Sutures ; Cysteine Proteases ; Female ; Gait ; Humans ; Laminectomy ; Ligaments* ; Magnetic Resonance Imaging ; Middle Aged ; Osteosclerosis ; Physical Examination ; Pycnodysostosis* ; Radiography ; Sequence Analysis, DNA ; Sequence Deletion ; Spinal Canal*

PURPOSE: ECD is a rare idiopathic condition characterized by infiltration of the bone, heart, lungs, retroperitoneum, skin, CNS and other tissues by a fibrosing process containing xanthomatous histiocytes and multinucleated giant cells of the Touton type. Orbital involvement of ECD is rare and we report two cases of Erdheim-Chester disease. METHODS: A 46-year-old man with dilated cardiomyopathy and chronic renal failure and a 70-year-old woman with pulmonary disease and intracranial mass visited our clinic because of bilateral proptosis. RESULTS: The systemic evaluation revealed multiple organ involvement, such as bone, heart, lung and retroperitoneum ,while radiography of the tibia showed symmetrical osteosclerosis. The biopsy of tibia revealed a diffuse infiltration of foamy histiocytes and multinucleated giant cells of the Touton type. Based on the diagnosis of ECD, the patients were treated with radiation and steroids. CONCLUSIONS: Although most patients with ECD do not have ocular involvement, the unusual occurrence of bilateral proptosis and diffuse infiltrative orbital masses are suggestive of ECD. These findings should alert the ophthalmologist to this potentially serious systemic disease and prompt an evaluation for systemic manifestations.
Aged ; Biopsy ; Cardiomyopathy, Dilated ; Diagnosis ; Erdheim-Chester Disease* ; Exophthalmos ; Female ; Giant Cells ; Heart ; Histiocytes ; Humans ; Kidney Failure, Chronic ; Lung ; Lung Diseases ; Middle Aged ; Orbit* ; Osteosclerosis ; Radiography ; Skin ; Steroids ; Tibia