• Journal of Korean Neurosurgical Society
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• 제29권4호
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• pp.550-554
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• 2000

Most extracranial schwannomas are solitary, but neurofibromas are frequently associated with other manietations of neurofibromatosis. Schwannomas that occur within the context of neurofibromatosis tend to be multiple, but multiple schwannomas without manifestation of neurofibromatosis type 2 are very rare. The authors report a very rare case of multiple spinal intradural schwannomas in the absence of neurofibromatosis Type 2 maniestations. A 40-year-old man suffered from longstanding low back pain and left side sciatica which was treated with two stage operations. MRI showed multiple intradural mass lesions extending from L1 vertebral segment to S1 vertebral segment. There were no clinical and radiological manifestations of Type 2 neurofibromatosis. Histologically confirmed diagnosis was schwannoma.

• 대한두경부종양학회지
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• 제16권1호
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• pp.87-91
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• 2000

Neurofibromatosis type I or Von Recklinghausen's disease can occur at any site in the body. It is characterized by multiple $c\'{a}fe\;\'{a}u\;l\'{a}it$ spots on the skin-more than six spots greater than 1.5cm-, neurofibromas of the peripheral and centarl nervous system, and variety of other dysplastic abnormalities of the skin, bones, endocrine organs, nervous systems, and blood vessels. It is an autosomal dominant trait disease with a frequency of 1 of 3000. Neurofibromatosis is known to be complicated by malignancies. Neurofibromatosis is progressive disease and shows a marked variations in expression in affected individuals. In this report we describe a male patient with neurofibromatosis type I developed in the parapharyngeal space. The patient had huge mass at left parapharyngeal space and inguinal area. We successfully treated the patient with surgery without complication.

• 대한두개안면성형외과학회지
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• 제21권1호
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• pp.41-44
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• 2020

In general, patients with neurofibromatosis type I have a higher risk than those with other types of neurofibromatosis of developing soft-tissue sarcomas related to the nervous system. We here present a 42-year-old man with neurofibromatosis type I who developed a protruding mass over only 2 weeks. The histopathological diagnosis was epithelioid sarcoma. Epithelioid sarcomas are rare and, to the best of our knowledge, no epithelioid sarcomas have been reported in patients with neurofibromatosis type I. Radical excision of the primary lesion was performed and postoperative radiotherapy and chemotherapy administered, as is recommended for epithelioid sarcoma. Our case emphasizes that patients with neurofibromatosis type I may develop malignant tumors.

• 대한소아치과학회지
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• 제35권3호
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• pp.556-561
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• 2008

신경섬유종증은 상염색체 우성 유전성 질환으로, 17번 염색체의 장완에 위치한 종양 억제 유전자의 변성에 의해 발생한다. 이는 두가지 형이 있으며 신경섬유종의 발생은 제1형 신경섬유종증의 임상적 진단 기준 중 하나이다. 신경섬유종증의 임상적 증상으로는 피부병소, 골변형, 중추신경계의 종양 등이 있으며 환자의 25%가 구강내 신경섬유종을 보인다. 악골내 신경섬유종은 드물며 방사선학적으로 하악공, 하악관, 이공을 포함하고 단방성으로 잘 경계된 방사선 투과성으로 나타난다. 신경섬유종은 하나 또는 그 이상의 병소에서 신경육종으로 전이된다는 점에서 임상적으로 중요하며 현재 특이한 치료법은 없으나, 외과적 절제술이 좋은 치료법으로 여겨지고 있다. 본 증례는 제1형 신경섬유종증 진단을 받은 환아로, 구강내 신경섬유종의 외과적 절제 후 양호한 결과를 보여 이를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제48권4호
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• pp.448-452
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• 2005

본 저자들은 전형적인 신경섬유종증 환자에서 이소성 신장을 동반한 환자를 최초로 경험하였기에 문헌고찰과 함께 보고한다.

• Clinical and Experimental Pediatrics
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• 제48권1호
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• pp.93-96
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• 2005

저자들은 출생 시부터 전신에 분포하는 밀크 커피색 반점이 있고, 액와부에 작은 주근깨를 보이며 정신 지체와 발달 지연등 제1형 신경섬유종증의 소견을 보이는 환아에서 급성 신경학적 쇠약 증세가 있어 시행한 뇌자기공명영상 촬영과 뇌동맥조영 촬영상 모야모야병의 소견이 동반된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한한방소아과학회지
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• 제15권2호
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• Journal of Chest Surgery
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• 제40권2호
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• pp.140-142
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• 2007

제1형 신경섬유종증에서 혈관 병변은 드물지만 매우 치명적일 수 있다. 환자는 제1형 신경섬유종증 가족력이 있는 28세 여자로 갑자기 생긴 배부 통증과 호흡곤란을 주소로 내원하였다. 흉부 전산화단층 촬영상 우측에 다량의 혈흉을 동반한 늑간 동맥류 파열이 발견되었고 생체징후가 불안정하여 응급수술을 시행하였다. 저자들은 자발성 혈흉을 동반한 제1형 신경섬유종증 1예를 치험하였기에 증례보고를 하는 바이다.

• 대한두경부종양학회지
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• 제13권1호
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• pp.86-89
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• 1997

Neurofibromatosis, now termed neurofibromatosis type I, is known as a congenital and familial disease presenting abnormalities of the skin, nervous system, bones, and soft tissue. We experienced a case of extremely large neurofibromatosis which developed on the orbital and temporal region of a 24-year-old man. The tumor was widely excised including normal skin margin, outer table of cranium, a part of zygoma and maxilla. Bony defect was reconstructed by rib bone graft and secondary cosmetic correction of blepharoptosis was performed using supratarsal fixation in postoperative 6 months.

• Journal of Korean Neurosurgical Society
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• 제59권6호
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• pp.650-654
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• 2016

Intrathoracic meningoceles are relatively rare entities found in patients with neurofibromatosis type I (NF1). Given that both the BRCA1 and NF-1 genes are located on the same long arm of chromosome 17, one would expect concurrence of neurofibromatosis and breast cancer. However, incidence of such co-disorders is very rare in the literature. Here, the authors report a case of a 50-year-old female patient with NF-1 and concurrent cancer of the left breast, who had a huge bilobulated intrathoracic meningocele with thoracic dystrophic scoliosis, treated surgically via a posterior-only approach for the meningocele and spinal deformity in the same setting.