神経線維腫症1型患者の口蓋に発生した巨大な神経線維腫の1例
Neurofibromatosis type I (NF1) is a chromosomal dominant hereditary disease characterized by cafe-au-lait spots of the skin and multiple neurofibroma. Oral manifestation of NF1 is relatively infrequent. We report a rare case of huge neurofibroma arising in the palate, associated with NF1. A 39-year-...
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| Published in | 日本口腔外科学会雑誌 Vol. 67; no. 10; pp. 596 - 600 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
社団法人 日本口腔外科学会
20.10.2021
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0021-5163 2186-1579 |
| DOI | 10.5794/jjoms.67.596 |
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| Abstract | Neurofibromatosis type I (NF1) is a chromosomal dominant hereditary disease characterized by cafe-au-lait spots of the skin and multiple neurofibroma. Oral manifestation of NF1 is relatively infrequent. We report a rare case of huge neurofibroma arising in the palate, associated with NF1. A 39-year-old woman visited our department with the complaint of a painless mass in the hard palate. An elastic-soft swelling measuring 50 x 38 mm was found on the right palate. The tumor was excised under general anesthesia. Histopathological findings revealed neurofibroma. The tumor has not recurred, and the patient has made good progress. |
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| AbstractList | Neurofibromatosis type I (NF1) is a chromosomal dominant hereditary disease characterized by cafe-au-lait spots of the skin and multiple neurofibroma. Oral manifestation of NF1 is relatively infrequent. We report a rare case of huge neurofibroma arising in the palate, associated with NF1. A 39-year-old woman visited our department with the complaint of a painless mass in the hard palate. An elastic-soft swelling measuring 50 x 38 mm was found on the right palate. The tumor was excised under general anesthesia. Histopathological findings revealed neurofibroma. The tumor has not recurred, and the patient has made good progress. |
| Author | 比嘉, 盛敏 仲間, 錠嗣 新垣, 敬一 比嘉, 努 銘苅, 泰明 狩野, 岳史 |
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| References | 20) Wright A and Jackson D : Neural tumors of the oral cavity， A review of the spectrum of benign and malignant oral tumors of the oral cavity and jaws. Oral Surg 49: 509-522, 1980. 10) 中田公人， 町野 守， 他：顎変形と口腔内病変をともなったRecklinghausen氏病の2例．口科誌 40: 547-581, 1991. 24) 楠川仁悟， 田中俊一， 他：口蓋に生じた孤立性神経線維腫の1例．日口外誌 35: 226-229, 1989 35) Nafarzadeh SH, Motallebnejad M, et al : A case report of neurofibromatosis. Caspian J Dent Res 3: 47-51, 2014. 23) Shklar G and Meyer I : Neurogenic tumors of the mouth and jaws. Oral Surg 16: 1075-1093, 1963. 8) 宮路圭介， 外丸隆宣， 他：口蓋に発生した神経線維腫の1例．日口外誌 21: 790-798, 1972. 29) 甲谷 至， 田中 博， 他：口腔に神経線維腫の発現をみたvon Recklinghausen病の2例．日口外誌 32: 996-1003, 1986. 4) Cawthon RM， Weiss R， et al : A major segment of the neurofibromatosis type1 gene, cDNA sequence, genomic structure and point mutations. Cell 62: 193-201, 1990. 1) 吉田雄一， 倉持 朗， 他：神経線維腫症1型 (レックリングハウゼン病) 診療ガイドライン2018．日皮会誌 128: 17-34, 2018 22) Cherrick HM and Eversole LR : Benign neural sheath neoplasm of the oral cavity. Report of thirty-seven cases. Oral Surg 32: 90, 1972. 31) 高木純一郎， 宮田 勝， 他：口蓋に神経線維腫を生じたvon Recklinghausen病の1例．小児口外 15: 47-53, 2005. 26) 渡邉拓磨， 渡辺猛寛， 他：上顎歯肉唇移行部に生じた孤立性神経線維腫の1例．日口外誌 65: 26-31, 2019. 25) 篠原 淳， 山田史郎， 他：口蓋の浸潤型孤立性神経線維腫の1例．日口外誌 38: 182-183, 1992. 33) Sigillo R, Rivera H, et al : Neurofibromatosis type 1, a clinicopathological study of the orofacial manifestations in 6 pediatric patients. Pediatric Dentistry 24: 575-579, 2002. 3) Wallace MR， Marchuk DA， et al : Type 1 neurofibromatosis gene identification of a large transcript disrupted in three NF1 patients. Science 249: 181-186, 1990. 21) Ellis GL, Abram AM, et al : Intraosseous benign neural sheath Neoplasm of the Jaws. Oral Surg 27: 716, 1977. 12) 高木廣文， 稲葉 裕， 他：レックリングハウゼン病と結節性硬化症の2次調査の重複率と全国患者数．厚生省特定疾患神経皮膚症候群調査研究．昭和62年度研究報告書 東京， 11-15， 1988. 15) Borberg A : Clinical and genetic investigation into tuberous sclerosis and Reckling hausen’s neurofibromatosis. Acta Psychiat Neurol Suppl 71: 11-239, 1951. 34) Munhoz EA, Cardoso CL, et al : Von Recklinghausen’s disease, Diagnosis from oral lesion. Neurofibromatosis I. Int J Odontostomat 4: 179-183, 2010. 39) George BF, Jucelio IJA, et al : Neurofibromatosis type 1， von recklinghausen disease, case report. IJDR 10: 34813-34817, 2020. 5) Viskochil D, Buchberg AM, et al : Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187-192, 1990. 42) Ferner RE, Huson SM, et al : Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44: 81-88, 2007. 41) Ghalayani P, Saberi Z, et al : Neurifibromatosis type I (von recklings disease)， a family case report and literature review. Dent Res J 9: 483-488, 2012. 38) Faraj MA, Sarah F, et al : Demographic, clinical and histopathological features of oral neural neoplasms， a retrospective study. Head and Neck Pathology 13: 208-214, 2019. 13) Littler M and Morton NE : Segregation analysis of peripheral neurofibromatosis (NF1). J Med Genet 27: 307-310, 1990 16) Preston FW, Walsh WS, et al : Cutaneous neulofibromatosis (von Recklinghausen’s disease). Arch Surg 64: 813-827, 1952. 27) Richards D : Neurofibroma of the oral cavity. Br J Oral Surg 21: 36-43, 1983. 17) Shafer WG, Hine MK, et al : Neurofibroma. Shafer WG: A textbook of oral pathology. W.B. Sannders Co, Philadelphia, 1983, p206-208. 7) 小林敏郎， 三宅 至， 他：神経線維腫症 (von Recklinghausen病) の1症候として口蓋に発生した神経線維腫の1例．日口外誌 10: 56-61, 1964. 37) Tirumalasetty SB, Yelamolu RK, et al : Neurofibroma of the palate. Hindawi Publishing Corporation Case Reports in Dentistry 2014, 1-4, 2014. 40) Gneep DR and Keyes GG : Central neurofibromas of the mandible, report of two cases. J Oral Surg 39: 125-127, 1981. 9) 橋本良知， 白数力也， 他：口腔症状をともなったvon Recklinghausen氏病の1例． 歯科医 39: 218-233, 1976. 19) Oberman HA and Sullenger G : Neurogenous tumors of the head and neck. Cancer 20: 1992-2001, 1967. 14) Niimura M : Overview and clinical aspects of neurofibromatosis 1. Gann Monograph on Cancer Research 46: 115-124, 1999. 30) 城之坊昌功， 松本成雄， 他：口蓋に神経線維腫の発現をみたvon Recklinghausen病の1例．日口外誌 39: 619-621, 1993. 11) 額田純一郎， 加納康行， 他：口蓋に神経線維腫の発生をみたvon Recklinghausen病の1例．大阪大歯誌 38: 581-585, 1993. 2) von Recklinghausen FD : Uber die multiplen Fibrome der Hant and ihre Beziehung zu den multiplen Neuromen. Berlin Virchows Festschrift, Hirschward, 1882, p1-41. 18) 遠城寺宗知， 岩崎 宏， 他：わが国における良性軟部組織腫瘍，8086例の統計的観察．癌の臨 20: 594-609, 1974. 32) Becelli R, Renzi G, et al : Von Recklinghausen neurofibromatosis with palatal localization, diagnostic and surgical problems in two clinical cases. Minerva Stomatol 51: 391-395, 2002. 6) Takano T, Kawashima T, et al : Genetics of neurofibromatosis 1 in Japan mutation rate and paternal age effect. Hum Genet 89: 281-286, 1992. 36) Sheejith M, Benny J, et al : An unusual case of multiple intraoral manifestations of neurofibromatosis type 1, case report with literature review. J Clinical and Diagnostic Research 8: 20-22, 2014. 28) 中野博志， 伊藤信明， 他：口腔症状をともなったvon Recklinghausen病の2例． 日口外誌 28: 253-259, 1982. |
| References_xml | – reference: 28) 中野博志， 伊藤信明， 他：口腔症状をともなったvon Recklinghausen病の2例． 日口外誌 28: 253-259, 1982. – reference: 38) Faraj MA, Sarah F, et al : Demographic, clinical and histopathological features of oral neural neoplasms， a retrospective study. Head and Neck Pathology 13: 208-214, 2019. – reference: 30) 城之坊昌功， 松本成雄， 他：口蓋に神経線維腫の発現をみたvon Recklinghausen病の1例．日口外誌 39: 619-621, 1993. – reference: 26) 渡邉拓磨， 渡辺猛寛， 他：上顎歯肉唇移行部に生じた孤立性神経線維腫の1例．日口外誌 65: 26-31, 2019. – reference: 42) Ferner RE, Huson SM, et al : Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44: 81-88, 2007. – reference: 31) 高木純一郎， 宮田 勝， 他：口蓋に神経線維腫を生じたvon Recklinghausen病の1例．小児口外 15: 47-53, 2005. – reference: 4) Cawthon RM， Weiss R， et al : A major segment of the neurofibromatosis type1 gene, cDNA sequence, genomic structure and point mutations. Cell 62: 193-201, 1990. – reference: 10) 中田公人， 町野 守， 他：顎変形と口腔内病変をともなったRecklinghausen氏病の2例．口科誌 40: 547-581, 1991. – reference: 36) Sheejith M, Benny J, et al : An unusual case of multiple intraoral manifestations of neurofibromatosis type 1, case report with literature review. J Clinical and Diagnostic Research 8: 20-22, 2014. – reference: 5) Viskochil D, Buchberg AM, et al : Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62: 187-192, 1990. – reference: 34) Munhoz EA, Cardoso CL, et al : Von Recklinghausen’s disease, Diagnosis from oral lesion. Neurofibromatosis I. Int J Odontostomat 4: 179-183, 2010. – reference: 39) George BF, Jucelio IJA, et al : Neurofibromatosis type 1， von recklinghausen disease, case report. IJDR 10: 34813-34817, 2020. – reference: 11) 額田純一郎， 加納康行， 他：口蓋に神経線維腫の発生をみたvon Recklinghausen病の1例．大阪大歯誌 38: 581-585, 1993. – reference: 27) Richards D : Neurofibroma of the oral cavity. Br J Oral Surg 21: 36-43, 1983. – reference: 19) Oberman HA and Sullenger G : Neurogenous tumors of the head and neck. Cancer 20: 1992-2001, 1967. – reference: 12) 高木廣文， 稲葉 裕， 他：レックリングハウゼン病と結節性硬化症の2次調査の重複率と全国患者数．厚生省特定疾患神経皮膚症候群調査研究．昭和62年度研究報告書 東京， 11-15， 1988. – reference: 37) Tirumalasetty SB, Yelamolu RK, et al : Neurofibroma of the palate. Hindawi Publishing Corporation Case Reports in Dentistry 2014, 1-4, 2014. – reference: 25) 篠原 淳， 山田史郎， 他：口蓋の浸潤型孤立性神経線維腫の1例．日口外誌 38: 182-183, 1992. – reference: 22) Cherrick HM and Eversole LR : Benign neural sheath neoplasm of the oral cavity. Report of thirty-seven cases. Oral Surg 32: 90, 1972. – reference: 23) Shklar G and Meyer I : Neurogenic tumors of the mouth and jaws. Oral Surg 16: 1075-1093, 1963. – reference: 29) 甲谷 至， 田中 博， 他：口腔に神経線維腫の発現をみたvon Recklinghausen病の2例．日口外誌 32: 996-1003, 1986. – reference: 6) Takano T, Kawashima T, et al : Genetics of neurofibromatosis 1 in Japan mutation rate and paternal age effect. Hum Genet 89: 281-286, 1992. – reference: 41) Ghalayani P, Saberi Z, et al : Neurifibromatosis type I (von recklings disease)， a family case report and literature review. Dent Res J 9: 483-488, 2012. – reference: 8) 宮路圭介， 外丸隆宣， 他：口蓋に発生した神経線維腫の1例．日口外誌 21: 790-798, 1972. – reference: 18) 遠城寺宗知， 岩崎 宏， 他：わが国における良性軟部組織腫瘍，8086例の統計的観察．癌の臨 20: 594-609, 1974. – reference: 33) Sigillo R, Rivera H, et al : Neurofibromatosis type 1, a clinicopathological study of the orofacial manifestations in 6 pediatric patients. Pediatric Dentistry 24: 575-579, 2002. – reference: 1) 吉田雄一， 倉持 朗， 他：神経線維腫症1型 (レックリングハウゼン病) 診療ガイドライン2018．日皮会誌 128: 17-34, 2018． – reference: 14) Niimura M : Overview and clinical aspects of neurofibromatosis 1. Gann Monograph on Cancer Research 46: 115-124, 1999. – reference: 2) von Recklinghausen FD : Uber die multiplen Fibrome der Hant and ihre Beziehung zu den multiplen Neuromen. Berlin Virchows Festschrift, Hirschward, 1882, p1-41. – reference: 21) Ellis GL, Abram AM, et al : Intraosseous benign neural sheath Neoplasm of the Jaws. Oral Surg 27: 716, 1977. – reference: 40) Gneep DR and Keyes GG : Central neurofibromas of the mandible, report of two cases. J Oral Surg 39: 125-127, 1981. – reference: 32) Becelli R, Renzi G, et al : Von Recklinghausen neurofibromatosis with palatal localization, diagnostic and surgical problems in two clinical cases. Minerva Stomatol 51: 391-395, 2002. – reference: 35) Nafarzadeh SH, Motallebnejad M, et al : A case report of neurofibromatosis. Caspian J Dent Res 3: 47-51, 2014. – reference: 15) Borberg A : Clinical and genetic investigation into tuberous sclerosis and Reckling hausen’s neurofibromatosis. Acta Psychiat Neurol Suppl 71: 11-239, 1951. – reference: 7) 小林敏郎， 三宅 至， 他：神経線維腫症 (von Recklinghausen病) の1症候として口蓋に発生した神経線維腫の1例．日口外誌 10: 56-61, 1964. – reference: 20) Wright A and Jackson D : Neural tumors of the oral cavity， A review of the spectrum of benign and malignant oral tumors of the oral cavity and jaws. Oral Surg 49: 509-522, 1980. – reference: 17) Shafer WG, Hine MK, et al : Neurofibroma. Shafer WG: A textbook of oral pathology. W.B. Sannders Co, Philadelphia, 1983, p206-208. – reference: 16) Preston FW, Walsh WS, et al : Cutaneous neulofibromatosis (von Recklinghausen’s disease). Arch Surg 64: 813-827, 1952. – reference: 9) 橋本良知， 白数力也， 他：口腔症状をともなったvon Recklinghausen氏病の1例． 歯科医 39: 218-233, 1976. – reference: 3) Wallace MR， Marchuk DA， et al : Type 1 neurofibromatosis gene identification of a large transcript disrupted in three NF1 patients. Science 249: 181-186, 1990. – reference: 13) Littler M and Morton NE : Segregation analysis of peripheral neurofibromatosis (NF1). J Med Genet 27: 307-310, 1990． – reference: 24) 楠川仁悟， 田中俊一， 他：口蓋に生じた孤立性神経線維腫の1例．日口外誌 35: 226-229, 1989, |
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| Title | 神経線維腫症1型患者の口蓋に発生した巨大な神経線維腫の1例 |
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