• 대한유전성대사질환학회지
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• 제16권3호
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• pp.141-147
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• 2016

저인산증은 드문 선천성 대사 이상 질환으로, 조직-비특이 알칼리 포스파테이스(TNSALP)의 결핍으로 인해 발생한다. 상염색체 우성 혹은 열성 유전이 모두 가능하며, 발생시기에 따라서 주산기, 영아기, 아동기, 성인기로 나뉘고, 증상이 일찍 발현할수록 예후가 나쁜 것으로 알려져 있다. 혈청 알칼리 포스파테이스가 감소해 있으면서 구루병 혹은 골연화증을 보이는 환자에서 ALPL 유전자 변이를 규명하는 것이 저인산증을 진단하는 가장 확실한 방법이다. 본 증례 보고는 산전 초음파에서 장골의 이상과 출생 후 저포스파테이스증이 확인되어 ALPL 유전자 검사를 통해 양성 주산기 저인산증으로 진단된 환자 보고이다. 환자는 출생 당시 호흡곤란이나 고칼슘혈증, 피리독신 의존성 발작 등의 합병증 없이 경과가 양호하였다. 생후 12개월 이후 성장 지연이 확인되었지만, 생후 53개월까지 골격의 무기질화가 호전된 양성 경과를 가지게 되었다. 현재 재조합 TNSALP인 asfotase alfa가 개발되어 주산기 및 영아기 저인산증 환아에서 조속한 진단과 치료가 더욱 중요해진 바, 좀더 많은 환자들의 진단이 이루어져야 하겠다.

• Clinical and Experimental Pediatrics
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• 제48권3호
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• pp.306-309
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• 2005

목 적 : 본 연구에서는 간이나 골격계 질환 없이 알카라인 포스파타아제만 증가된 환아들의 임상적 특징을 알아보고 원인과 의의를 알아보고자 하였다. 방 법 : 2002년 1월부터 2002년 12월까지 1년 동안 본원에서 알카라인 포스파타아제를 포함한 생화학 검사를 시행한 4개월부터 14세까지의 소아 4,989명에서 알카라인 포스파타아제가 1,000 IU/L 이상으로 측정된 환자 114명 중 골격계나 간질환이 없었던 환아를 대상으로 하여 의무기록을 이용하여 후향적인 조사를 하였다. 결 과 : 알카라인 포스파타아제가 1,000 IU/L 이상으로 측정된 114명 중 97명(85.8%)이 골격계나 간질환 없이 알카라인 포스파타아제가 상승하였으며 남녀 성비는 1 : 0.7로 남아가 많았다. 평균 알카라인 포스파타아제는 $1,539{\pm}948IU/L$이었으며, 연령 분포는 4개월에서 1세 미만이 44명(45.3%), 1세에서 2세가 19명(19.3%)으로 가장 많았으며, 월별 분포는 9월에서 12월까지 비교적 발병률이 높았다. 동반 질환은 기관지염 및 폐렴, 천식, 크룹 등의 호흡기계 질환이 25명(26.9%), 급성 장염이 17명(17.5%)으로 가장 많았다. 1개월 후 알카라인 포스파타아제가 추적검사가 시행되었던 44명 중 37명(84%)에서 1,000 IU/L 이하로 떨어졌다. 결 론 : 소아기에 알카라인 포스파타아제 상승하는 것은 골격이나 간의 질환이 없는 경우 비특이적 지표로 생각된다. 일과성 고포스파타아제혈증은 양성적이고 일시적인 현상으로써 임상적으로 간이나 골격계의 이상이 없으며, 1-2개월 후에 다시 검사하여 알카라인 포스파타아제가 감소하는 경우에는, 악성 종양이나 기타 질환을 배제하기 위하여 불필요한 특수 검사들을 시행할 필요가 없을 것으로 보인다.

• Journal of International Society for Simulation Surgery
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• 제3권2호
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• pp.60-63
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• 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.

• 대한두경부종양학회지
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• 제25권1호
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• pp.36-38
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• 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
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• 제36권3호
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• pp.157-162
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• 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
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• 제46권2호
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• pp.49-53
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• 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
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• 제40권3호
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• pp.140-146
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• 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
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• 제30권11호
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• pp.1320-1323
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• 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.

• 대한골관절종양학회지
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• 제20권1호
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• pp.22-26
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• 2014

골내 표피낭종은 드문 양성 낭성 병변이다. 이는 선천적인 요인이나 외상의 결과로 사료되며, 골 주변의 연부 조직에서 발생하기 때문에 골 파괴를 유발할 수 있다. 골내 표피낭종의 단순방사선 소견은 피질골의 팽대를 동반한, 경계가 명확한 방사선 투과성 병변이다. 임상적, 방사선학적 소견이 유사하기 때문에 원위 지골에서 발생한 다른 질환들과 골내 표피낭종을 감별하는 것이 중요하다. 저자들은 원위 지골에서 발생한 골내 표피낭종의 2개의 드문 증례를 보고하고자 한다.

• 대한두경부종양학회지
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• 제10권1호
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• pp.63-73
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• 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.