• Archives of Plastic Surgery
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• v.33 no.3
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• pp.371-375
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• 2006

Frontometaphyseal dysplasia is a rare genetic syndrome first described by Gorlin and Cohen in 1969. This disease affects the skeletal system and connective tissue, and could be characterized by hyperostosis of the skull, prominence of supraorbital ridges, additional skeletal and extraskeletal abnormalities. It is believed that the condition is an X-linked dominant trait with severe manifextations in males and extreme variability in females.We described a case of 15-year-old boy manifested a pronounced supraorbital ridge associated with exorbitism. He also had bilateral progressive hearing deficit, thoracic spine scoliosis, chest wall deformity, bilateral maxillary sinusitis and both 5th finger arachnodactyly.The patient underwent a fronto-temporo-orbital cranioplasty through a coronal incision. The frontal bone including supraorbital region, orbital lateral rim and temporal bone were extensively contoured with burr. And then, burring of the medial aspect of lateral orbital wall was made to increase both orbital volume for correction of exorbitism. Postoperative results show well corrected prominent supraorbital ridge, hyperostosis of frontotemporal bone and exorbitism. The patient was satisfied with the improved appearance. No recurrence occurred during the 6 months of follow-up period. We report this case as it shows esthetically good result without any complication.

• Journal of Korean Neurosurgical Society
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• v.37 no.3
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• pp.238-240
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• 2005

Meningioma is usually known to occur stuck to the dura mater, but extradural meningioma occurs rarely. Most of the extradural meningiomas are located in the head and neck and we report a case of the primary intraosseous meningioma in the orbit. A 50-year old woman presented with the left eye hyperemia and exophthalmos. Neuroimaging modalities showed hyperostosis at the left sphenoid and orbital wall. On microscopic view, spindle cells and psammoma bodies between the woven bones were observed. The origin of the intraosseous meningioma is explained with various potent possibilities and differential diagnosis thoroughly explored.

• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2009.04a
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• pp.309-309
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• 2009

• Investigative Magnetic Resonance Imaging
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• v.18 no.1
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• pp.59-63
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• 2014

A 66-year-old woman was transferred to our hospital due to her right breast cancer. Preoperative breast MRI shows 1.9 cm malignancy on her right breast (cT1N0M0) and incidentally found osteosclerotic change of left coststernoclavicular region. Bone scintigraphy showed hot uptake and the possibility of bone metastasis was not excluded. However, because the bone metastasis is not common in early stage cancer and the costosternoclavicular region is not common site, other possibility should be considered. SAPHO syndrome can be diagnosed even in the absence of dermatosis when there is an axial or appendicular osteitis and hyperostosis, especially in costosternoclavicular region. Though breast imaging specialists are not accustomed to this disease entity, awareness and diagnosis of the SAPHO syndrome can help differentiate bone metastasis.

• Journal of the Korean Society of Radiology
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• v.82 no.6
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• pp.1413-1440
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• 2021

On MRI, abnormal signals of the intervertebral disc, destruction of the upper and lower vertebral body endplate around the disc, and bone marrow edema around the endplate are considered typical findings of infectious spondylitis. These findings can also appear in various non-infectious spinal diseases, such as degenerative changes, acute Schmorl's node, spondyloarthropathy, synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO), chronic recurrent multifocal osteomyelitis, and calcium pyrophosphate dihydrate crystal deposition disease. The imaging findings of infectious spondylitis that can be differentiated from these non-infectious spinal diseases on MRI are high signal intensity and abscess of the disc space, an abscess in the paraspinal soft tissue, and the loss of the linear low signal intensity on T1-weighted images of the bony endplate. However, these differentiation points do not always apply since there are many similarities in the imaging findings of infectious and non-infectious diseases. Therefore, for an accurate diagnosis, it is important to know the imaging characteristics related to the pathophysiology of not only infectious spondylitis but also non-infectious spinal diseases, which requires differentiation from infection.

• Journal of Korean Neurosurgical Society
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• v.49 no.1
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• pp.68-70
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• 2011

Neuroblastoma is a common tumor of children. We report a patient with extensive calvarial metastases of a neuroblastoma as an initial presentation. A 2-year-old girl presented with a history of gradually increasing head size and fever. A brain CT showed a multilobulated, large, extra-axial tumor involving both frontotemporoparietal areas with a sunray-spiculated hyperostosis of the skull and marked contrast enhancement. A brain MRI demonstrated extensive calvarial lesions with simultaneous involvement of the orbits. A biopsy was performed and a ganglioneuroblastoma was diagnosed. On systemic evaluation, an enlarged abdominal mass was detected. After neo-adjuvant chemotherapy, most of the tumors disappeared except for a tumor in the left parietal area; there was a corresponding decrease in the circumference of the head. We performed surgery for the remnant mass. Intensive chemotherapy was administered and a bone marrow transplantation was performed. Adequate neo-adjuvant chemotherapy followed by surgery to the neuroblatoma with extensive metastases to the skull and orbit may be helpful.

• Imaging Science in Dentistry
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• v.41 no.4
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• pp.177-181
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• 2011

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

• Journal of Korean Neurosurgical Society
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• v.52 no.1
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• pp.7-13
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• 2012

Objective : The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of fibroblast growth factor (FGF) 2 gene and fibroblast growth factor receptor (FGFR) genes are associated with ossification of the posterior longitudinal ligament (OPLL). Methods : A total of 157 patients with OPLL and 222 controls were recruited for a case control association study investigating the relationship between SNPs of FGF2, FGFR1, FGFR2 and OPLL. To identify the association among polymorphisms of FGF2 gene, FGFR1, FGFR2 genes and OPLL, the authors genotyped 9 SNPs of the genes (FGF2 : rs1476217, rs308395, rs308397, and rs3747676; FGFR1 : rs13317 and rs2467531; FGFR2 : rs755793, rs1047100, and rs3135831) using direct sequencing method. SNPs data were analyzed using the SNPStats, SNPAnalyzer, Haploview, and Helixtree programs. Results : Of the SNPs, a SNP (rs13317) in FGFR1 was significantly associated with the susceptibility of OPLL in the codominant (odds ratio=1.35, 95% confidence interval=1.01-1.81, p=0.048) and recessive model (odds ratio=2.00, 95% confidence interval=1.11-3.59, p=0.020). The analysis adjusted for associated condition showed that the SNP of rs1476217 (p=0.03), rs3747676 (p=0.01) polymorphisms in the FGF2 were associated with diffuse idiopathic skeletal hyperostosis (DISH) and rs1476217 (p=0.01) in the FGF2 was associated with ossification of the ligament flavum (OLF). Conclusion : The results of the present study revealed that an FGFR1 SNP was significantly associated with OPLL and that a SNP in FGF2 was associated with conditions that were comorbid with OPLL (DISH and OLF).

• Archives of Plastic Surgery
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• v.37 no.4
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• pp.473-476
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• 2010

Purpose: Torus palatinus is a bony prominence at the middle of the hard palate. The size varies from barely discernible to very large, from flat to lobular. This oral exostosis is not a disease or a sign of disease, but if large, may be a problem. So, we present the clinical and histopathologic features and applied therapy and provide a comprehensive review of the rare case of the symptomatic exostoses. Methods: A 37-year-old woman had slowly growing exophytic nodular mass of the bone that arises the midline suture of the hard palate. The patient was concerned about discomfort associated with movement of her tongue and about frequent irritation of the palatal mucosa during mastification of the hard food. The patient had a large, unilobulated torus palatinus. It extended from the area adjacent to the canine to a point beyond the junction with the soft palate. The mass was oblong in shape, measuring about 3 cm long, 2 cm wide, and 0.8 cm in height. Results: Before surgical intervention a CT was obtained for the sake of estimating the thickness of the bone between the exostoses and the maxillary antrum and floor of the nose. The surgical procedure was performed with the patient under general anesthesia. Removal of the exostosis was performed after midline mucoperiosteal incision with osteotome and diamond burr. Histologic finding revealed decalcified dense bony tissue, the presence of lacunae, and normal osteocytes. Conclusion: Surgical removal is recommended when one or more of the following condition exist: interference with the construction of prosthesis, interference with oral function, irritation or pathology of the overlying tissue, inability of the patient to maintain proper oral hygiene, and fear of malignancy or other psychologic trauma. We report a rare case of the torus arising in hard palate with symptoms.

• Journal of Veterinary Clinics
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• v.39 no.5
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• pp.235-239
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• 2022

A 10-year-old neutered male Siberian Husky presented with paraparesis and severe lethargy. On physical examination, the patient was unable to weight-bear and walk and exhibited significant muscle mass loss in both hindlimbs and generalized truncal alopecia with a dull coat of hair. On neurological examination, cranial lumbar vertebral pain, hind limb cross-extensor reflex, delayed hindlimb postural reaction, upper motor neuron bladder dysfunction, and total absence of cutaneous trunci reflex were identified. Computed tomography revealed diffuse idiopathic skeletal hyperostosis and spondylosis deformans of the cervical and thoracolumbar vertebrae. In addition, a generalized decrease in bone mineral density of the vertebrae was identified. Magnetic resonance imaging showed hyperplasia of the epidural fat compressing the spinal cord in the thoracolumbar region and concurrent mild multiple intervertebral disc herniations. No specific findings were observed in cerebrospinal fluid analysis. Blood analysis of thyroid function revealed decreased total T4 and free T4 levels, and increased TSH levels. The patient was tentatively diagnosed with spinal epidural lipomatosis (SEL) secondary to hypothyroidism. The patient was treated with levothyroxine, firocoxib, and gabapentin. Clinical signs gradually improved, and the patient showed normal ambulation 40 days after treatment initiation. SEL is extremely rare in dogs. To the best of our knowledge, this is the first case report of SEL secondary to hypothyroidism that was treated conservatively. Secondary SEL can be sufficiently managed by treating the underlying cause, if possible.