• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.3
• /
• pp.141-147
• /
• 2016

Hypophosphatasia is caused by the mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). It can be inherited either in an autosomal dominant or recessive manner. Clinically, hypophophosphatasia is characterized by skeletal findings similar to those in rickets or osteomalacia, but serum alkaline phosphatase levels are decreased in the affected patients. Hypophosphatasia can be classified into six clinical forms according to age at diagnosis and severity of symptoms: perinatal lethal, infantile, childhood, adult, odontohypophosphatasia, and perinatal benign. As being a very rare disease, only one case has been reported in Korean population. Here we describe a case with perinatal benign hypophosphatasia with recessive ALPL mutations. Bowing of lower legs was detected in prenatal period and low serum alkaline phosphatase level was noted after birth. During the follow-up evaluation for 4.5 years, bone mineralization and legs bowing were improved but the growth retardation was persistent. As the recombinant bone-targeted human TNSALP became available, the clinical improvement of the affected patients is expected including the case described here with this treatment. More efforts are needed to identify the cases affected by hypophosphatasia.

• Clinical and Experimental Pediatrics
• /
• v.48 no.3
• /
• pp.306-309
• /
• 2005

Purpose : The aim of study is to investigate the clinical manifestations and the etiology of markedly-elevated serum alkaline phosphatase(ALP) levels in children without accompanying liver or bone disease. Methods : The serum ALP and other biochemical laboratory data of 4,989 patients attending the pediatric department of Ewha Womans University Mokdong Hospital between January 2002 to December 2002 were studied. The subjects' ages ranged from 4 months to 14 years. Among them, serum ALP levels were markedly elevated over 1,000 IU/L in 114 children. Among those 114 children, 97 children without liver or bone disease were reviewed retrospectively. Results : Of the 114 children with serum ALP activity of over 1,000 IU/L, 97(85.8 percent) children had neither liver or bone disease. The average ALP activity level was $1,539{\pm}948IU/L$. The male : female ratio was 1 : 0.7. Forty-four children(45.3 percent) were between 4 months to 1-year-old, 19 children(19.3 percent) were between 1- to 2-year-old. We observed a seasonal clustering of cases in during October with 10 cases(10.2 percent) and in during December with 11 cases(11.3 percent). The most common clinical presentation was respiratory tract infection in 25 cases(26.9 percent), and acute gastroenteritis in 17 cases(17.5 percent). Forty-four cases had follow-up ALP activity level, 1 month later and the activity decreased under 1,000 IU/L in 37 cases(84 percent). Conclusion : Hyperphosphatasemia is a benign and transient phenomenon. If there are no clinical and laboratory abnormalities of liver and bone, we suggest monitoring monitor the high serum ALP level 1 month later. If decreased, it seems that it is not necessary for specific examinations to exclude other diseases of malignant condition.

• Journal of International Society for Simulation Surgery
• /
• v.3 no.2
• /
• pp.60-63
• /
• 2016

Fibrous dysplasia is quite a rare disease usually involving maxilla and mandible. Because of its benign clinical course, conservative contouring surgery has been recommended for facial deformity. 3D rapid prototype (RP) model gives a lot of informations before operation such as depth of drilling, area of resection and important anatomic structure. The purpose of this study was to report maxilla-mandibular contouring surgery in fibrous dysplasia patients. A total of 14 consecutive patients were included for surgical and esthetic evaluation. Among 14 patients, RP model study was performed in two patients with severe facial deformity. The other patients underwent contouring surgery under conventional methods. Surgical evaluation was performed with computed tomography scan before and after operation. Surgical resection was successful and patients were satisfied with the surgical results.

• Korean Journal of Head & Neck Oncology
• /
• v.25 no.1
• /
• pp.36-38
• /
• 2009

Osteochondroma, known as osteocartilaginous exostosis, is most common benign bone tumor. The pyriform sinus are extremely rare involved, and there are a few cases reported. Most patients complain of foreign body sensation, and histologic diagnosis can confirm the disease. Treatment is by surgical excision. This should give complete resolution and there were rare recurrences with good prognosis. We experienced a osteochondroma of the priform sinus presenting as a submucosal mass. We report the case with a review of literatures.

• Imaging Science in Dentistry
• /
• v.36 no.3
• /
• pp.157-162
• /
• 2006

Familial gigantiform cementoma is a rare fibre-cemento-osseous disease of the jaws which appears to be transmitted as an autosomal dominant trait with variable expressivity of the phenotype. A 7-year-old girl visited DKUDH complaining of the painless facial deformity. Clinically, significant facio-lingual expansion was observed at the left maxilla, left mandibular body and symphysis portion. Malposition of lower anterior teeth was found. Panoramic radiograph and CT scan showed the extensive expansile mixed lesion at maxilla and mandible. Bone scan revealed hot spot at the maxilla and left side of mandible. Histologic examination revealed moderately dense fibrous connective tissue with scattered masses resembling cementum. The patient's mother had a history of the mandibular resection due to benign tumor. Her younger brother had buccal expansion of right mandible. We report our finding of a family that has exhibited clinical, radiographic and histologic findings consistent with the familial gigantiform cementoma.

• Journal of Oral Medicine and Pain
• /
• v.46 no.2
• /
• pp.49-53
• /
• 2021

Florid cemento-osseous dysplasia (FCOD) is benign, non-neoplastic lesion characterized by multiple sclerosing masses. Cases of bisphosphonate-related osteonecrosis in FCOD have been rarely reported. we present the patient had multiple osteonecrosis with FCOD in the jaw that occurred after receiving bisphosphonates for eight years due to osteoporosis This report discussed the importance of evaluation of the bone disease in the jaw before bisphosphonate treatment and periodic follow-up.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
• /
• v.40 no.3
• /
• pp.140-146
• /
• 2014

Pigmented villonodular synovitis (PVNS) is a benign but locally aggressive and destructive disease originating in the synovial membranes. It is a proliferative disorder of unknown etiology. Involvement of the temporomandibular joint (TMJ) is very rare. Computed tomography clearly reveals areas of lytic bone erosion and sclerosis, and also clearly defines the extent of the tumor which is the focal areas of hyperdensity within the soft-tissue mass. Magnetic resonance images invariably show profound hypointensity on both T1- and T2-weighted sequences due to hemosiderin pigmentation. Additionally, high signal intensity on T2-weighted images may indicate cystic loculation of the joint fluid. This case study describes a rare case of PVNS of the TMJ with bone destruction of the mandibular condyle. Complete surgical excision of the lesion was performed through a preauricular approach with temporal extension. During the 10-year follow-up, two more operations were performed due to local recurrence and the fracture of the reconstruction plate. Total joint reconstruction with Biomet was finally performed, and the absence of disease was confirmed with a biopsy report showing fibrosis with hyalinization and mild inflammation of the excised soft tissue from the old lesion.

• Journal of Korean Neurosurgical Society
• /
• v.30 no.11
• /
• pp.1320-1323
• /
• 2001

SAPHO syndrome is an acronym for an increasingly recognized syndrome of synovitis, acne, pustulosis, hyperostosis, and osteitis. Most of the previously reported case are from Japan and Europe. The authors report a case of SAPHO syndrome in Korean female who presented with extrasternal neurologic symptoms. A 60-year-old female with thoracic and right chest wall pain presented with the sternocostoclavicular hyperostosis, and recurrent aseptic osteitis. Previously, she had hystrectomy and thyroidectomy due to uterine malignancy 25 years ago. Also, she started to take medications for palm and sole pustulosis 7 days prior to admission. Through evaluation of clinical, radiological, serological studies, studies was done along with bone needle biopsy for the biological reassessment. The hyperostosis was found in the pedicles of thoracic 8, 9, 10 vertebrae and sternoclavicular joint. Radio-isotope bone scan showed an accumulation of tracer in thoracic vertebra. The bone biopsy from these site showed increased osseous turnover, thickening of trabeculae accompanied by mild acculuation of granulation tissue and round cell infiltration, compatible with mild chronic inflammation with marrow fibrosis. The patient showed good response to conservative management. The authors report a case of SAPHO syndrome with thoracic radiculopathy. It is considered that SAPHO syndrome is related to spondyloarthropathy, and appears to have benign disease process with good prognosis.

• The Journal of the Korean bone and joint tumor society
• /
• v.20 no.1
• /
• pp.22-26
• /
• 2014

An intraosseous epidermal cyst is a rare benign cystic lesion. It is thought to result from congenital factors or trauma and can lead to bone destruction because the cyst develops at the soft tissue around the bone. Radiological findings of intraosseous epidermal cysts are a well-defined radiolucent lesion, with cortical expansion. It is important to differentiate an intraosseous epidermal cyst with other disease developed at distal phalanx because its clinical and radiological findings are similar. We report two rare cases of intraosseous epidermal cysts that developed at the distal phalanx.

• Korean Journal of Head & Neck Oncology
• /
• v.10 no.1
• /
• pp.63-73
• /
• 1994

Chondrosarcomas are uncommon disease that are noted almostly in the pelvis, sternum, long bone. Chondrosarcoma in the head & neck was very rare. It can occur in nearly every bone in the head and neck. Lesion of the maxilla is most frequent site in head and neck region, but temporomandibular joint is rare site. In chondrosarcoma of temporomandibular joint, its danger lies in its local invasiveness and potential to seed into the meninges. Histologically, the tumor exhibits myxoid feature, which must be differentiated from chordoma and chondroid chordoma. The cranial nerve palsies frequently observed with the tumors are related to the anatomical location. Chondroma is a benign tumor that most frequently found in the hand, foot bone, but can be originated in any cartilagenous area of body. When it occurs in one site, it is named as solitary enchondroma, and when it occurs in multiple site, it is named as multiple enchondromatosis. In the head & neck, it may occur in the nasal cavity, nasopharynx, nasal septum, eustachian tube, palate. But chondroma that occur as neck mass is extremely rare. Recently, the authors experienced a case of chondrosarcoma confirmed pathology affecting 35-years-old female presenting mass in left temporomadibular joint and a case of chondroma confirmed pathology affecting 26-years-old female presenting neck mass, left.