• Maxillofacial Plastic and Reconstructive Surgery
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• 제11권2호
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• pp.81-86
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• 1989

말초 신경 조직에서 발생되는 종양은 신경섬유종, 신경초종, 파립세포종, 악성신경초종 등이 있다. 신경섬유종은 2가지 형태로 분류될 수 있다. 첫째 형태는 단독형 신경섬유종이고, 둘째는 신경섬유종 혹은 Von Recklinghausen's병으로 불리우는데 이는 주로 피부, 신경조직, 뼈, 연조직에 기형을 유발할 수 있고, 선천적이며, 가족력을 나타낸다. 단독형 신경섬유종은 양성이며, 경계는 명확하나 capsule에 의해 싸여 있지 않으며, 피부나 피하조직에 sessile 혹은 pedunculated 형태로 나타난다. 두경부의 어느 부위에나 나타날 수 있으며, 구강내의 호발 부위는 혀, 협점막, 구개 순이다. 단독형 신경섬유종은 방사선에 의한 치료에 효과가 적으며, 재발율이 낮고, 치료는 주로 외과적 절제술로 제거를 하고, 결손부를 삼각흉피판(D-P flap)과 설피판(tongue flap)으로 수복하여 현재까지 합병증 없이 양호한 결과를 얻었다.

• Clinical and Experimental Pediatrics
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• 제57권9호
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• pp.410-415
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• 2014

Purpose: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1. Methods: A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed. Results: Age of the patients at the time of NF1 diagnosis was $15.8{\pm}14.6$ years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, $Caf\acute{e}$-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: $p.Arg2517^*$, $p.Cys2371^*$; one small deletion: $p.Leu1944Phefs^*6$). Conclusion: The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

• 대한후두음성언어의학회지
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• 제26권2호
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• pp.137-140
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• 2015

Neurofibroma is characterized as a benign, slow growing neoplasm, originating from Schwann cells or fibroblast in peripheral nerve sheaths. It may appear as a solitary tumor or have multiple localizations in von Recklinghausen disease. They are commonly found in the gastrointestinal tract and laryngeal neurofibromas are extremely rare, accounting for only 0.03 to 0.1% of benign tumors of the larynx. The aryepiglottic fold and arytenoid are the common site of occurrence for laryngeal neurofibroma, because the branch of the superior laryngeal nerve is involved. We present a case of solitary plexiform neurofibroma arising from the laryngeal surface of epiglottis in a 55-year old female who found the lesion incidentally. We removed the tumor completely by transoral laser surgery and no recurrence was found after 7 months. The case of solitary neurofibroma arising from laryngeal surface of epiglottis has not been reported in Korea. We report this case regarding the diagnosis and treatment with review of literatures.

• Archives of Plastic Surgery
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• 제38권5호
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• pp.679-682
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• 2011

Purpose: Neurofibromas of neuroectodermal origin are commonly found in Von Recklinghausens disease or neurofibormatosis type 1. It is an autosomal dominant disease caused by mutation of the long arm of chromosome 17. It can present from small nodules to disfiguring giant tumor. Plexiform neurofibroma is benign in most cases, but it could be transformed into malignant tumor, which requires surgical excision. To cover the defects after the excision, a number of surgical correction methods are available. This study is to report a surgical correction of disfiguring plexiform neurofibroma using anterolateral thigh free flap for extensive defects after surgical excision of neurofibrona. Methods: Data of five neurofibroma patients with an average age of 39 including medical history, physical examination, computed tomography, and magnetic resonance imaging were checked. No disease other than neurofibroma were detected. Biopsy on the excised tissues was performed. The follow-up period was 7 to 27 months. Results: The average size of defects after complete excision of neurofibroma was $13{\times}10{\sim}25{\times}15$ cm. Defects were covered by anterolateral thigh free flap, while donor sites were covered by local flap, split thickness skin graft and regional flap. Throughout follow-up, there were no complication, relapse, or any abnormalities. Conclusion: Despite various surgical correction methods are applicable to defects after excision on disfiguring plexiform neurofibroma, coverage of massive defects is still challenging in plastic and reconstructive surgeon. We have made five successful cases of surgical correction of disfiguring plexiform neurofibroma using anterolateral thigh free flap.

• Journal of Korean Neurosurgical Society
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• 제38권1호
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• pp.16-22
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• 2005

Objective : The authors characterize a syndrome of multiple neurogenic tumors in the spinal canal, which is unclassifiable by the current National Institute of Health[NIH] criteria for neurofibromatosis. Methods : We retrospectively examined cases in which two or more spinal neurogenic tumors were detected by magnetic resonance[MR] imaging and which had been pathologically confirmed. Eighteen patients were recruited between February 1986 and March 2002. According to NIH criteria, eight cases were neurofibromatosis type 1[NF1], four were type 2[NF2], and six were neither type 1 nor type 2 [Unclassifiable : UC]. The locations of lesions, clinical presentations, radiological findings, and pathological results with immunohistochemistry were reviewed. Results : In the case of NF2, three of four cases were intradural tumors. Pathological examinations revealed neurilemmomas in two of four NF2 and all of the UC cases. In the case of NF1, pathological examinations showed seven neurofibromas and one neurilemmoma. Concerning UC, the age at presentation was middle-aged to late [mean age 48.5, range 35 to 64], which contrasted with ordinary NF2, where patients tended to become symptomatic before 20years of age. The pathological examinations of UC cases revealed neurilemmoma similar to most of NF2 and the immunohistochemical study showed characteristic of NF1. Conclusion : Multiple neurogenic tumors in the spinal canal are an under-recognized disease entity. Further studies for genetic aberration in multiple spinal neurogenic tumors are needed.

• Clinics in Shoulder and Elbow
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• 제16권2호
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• pp.135-140
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• 2013

제 1형 신경 섬유종증 환자에서 발생한 재발성 견관절 탈구 및 동반된 근위 상완골 골절 1예를 보고하고자 한다. 제 1형 신경 섬유종증으로 진단된 20세 남자로 가벼운 외상 후 발생한 우측 견관절의 탈구와 근위 상완골 골절로 내원하였다. 수상측 주관절부에는 큰 망상형 신경 섬유종들이 있었으며 견관절 탈구는 재발성 병변이었다. 단순 방사선과 컴퓨터 단층 촬영 소견 상 상완골과 견갑골의 골성 변형을 보였고 자기 공명 영상 검사 상 삼각근과 회전근 개에 다발성 신경 섬유종성 변화가 관찰되었다. 관혈적 정복술 및 관절막 재건술을 시행하였으며 근위 상완골 골절은 재건 금속판을 이용하여 고정하였다. 골유합과 만족스런 기능 회복을 보였으며 수술 후 7개월 추시 상 견관절 탈구의 재발은 관찰되지 않았다. 제 1형 신경 섬유종증 환자에서 발생한 견관절 재발성 탈구와 근위 상완골 골절은 드문 합병증이나 질환의 정형외과적 접근 시 고려해야 할 것으로 사료된다.