• 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.

• Archives of Plastic Surgery
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• 제45권6호
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• pp.583-587
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• 2018

Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults. It typically originates on the skin, later affecting the deep soft tissue of the extremities, head or neck, and retroperitoneum by infiltrative growth. It is locally aggressive, does not regress spontaneously, and tends to metastasize locally as well as to the regional lymph nodes. In this article, we report a case of adult-onset KHE with neurofibromatosis type 1. The patient presented to our department with a 2-month history of a painful ulceration in her left popliteal area. Since KHE had not previously been reported in patients with neurofibromatosis, the diagnosis was difficult due to the similarity of the skin manifestation to neurofibromatosis-associated lesions. We share our experience of diagnosing and treating this rare case of adult-onset KHE.

• 대한영상의학회지
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• 제82권2호
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• pp.417-422
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• 2021

제1형 신경섬유종증은 상염색제 우성으로 유전되는 신경외배영성 질환으로 다양한 악성 종양이 발생할 수 있다. 하지만 유방암이 발생한 보고는 드물다. 이에 저자들은 제1형 신경섬유종증 환자에서 발생한 양측성 유방암 증례를 영상 소견과 함께 보고하고자 한다.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.40-42
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• 2014

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of the whole-messenger RNA region of NF1 at the complementary DNA level by polymerase chain reaction-direct sequencing confirmed the presence of an NF1 mutation at the genomic level. The mutation analysis revealed an in-frame skipping of exon 46 (c.6757_6858del) caused by a point mutation (c. 6792C>A) in exon 46. In this report, we have described the first Korean case of a proband with NF1 that carries an allele with an exon 46 deletion caused by an exonic splicing enhancer site mutation, leading to the skipping of the whole of exon 46 (c.6757_6858del).

• 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.

• The Korean Journal of Pain
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• 제26권2호
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• pp.160-163
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• 2013

Malignant peripheral nerve sheath tumors (MPNSTs) are very rare sarcomas derived from various cells in the peripheral nerve sheath. Malignant peripheral nerve sheath tumors have a known association with neurofibromatosis type 1. Diagnosis of MPNSTs is difficult in patients with chronic pain, when MPNST occurs at an overlapping area of chronic pain. Therefore, the diagnosis can be missed unless clinicians pay attention to the possibility of this disease. Here in, we report a case of concurrent malignant peripheral nerve sheath tumor with complex regional pain syndrome type 1. A 44-year female patient, who was diagnosed with complex regional pain syndrome (CRPS) type 1 in her left ankle, visited our clinic because of aggravated pain. The cause of the aggravated pain was revealed as concurrent MPNST in the left common peroneal nerve territory, which overlapped the site of pain from CRPS.

• 대한두경부종양학회지
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• 제37권2호
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• pp.77-80
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• 2021

Plexiform neurofibromas (PNFs) represent an uncommon variant (30%) of neurofibromatosis type 1 (NF-1), in which neurofibromas arise from multiple nerves as bulging and deforming masses involving connective tissue and skin folds. We report the case of a 17-year-old man with known NF-1 presenting with bilateral occipital neuralgia that began in his late adolescence. His chief complaint was radiating pain in the occiput induced by protective helmet wear when riding alpine skiing. Craniofacial magnetic resonance imaging (MRI) confirmed the presence of fusiform masses arising from the bilateral greater occipital nerves. Histopathological examination of the biopsy samples showed PNFs. After surgical treatment, the patient's symptoms completely improved. Unlike cutaneous neurofibromas, PNFs have different clinical characteristics and have the risk of malignant mutations. Correct diagnosis and adequate surgical treatment are necessary for PNFs.

• Archives of Plastic Surgery
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• 제47권1호
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• pp.92-96
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• 2020

Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma originating from the sheaths of peripheral nerves. Approximately 50% of MPNSTs occur in patients with neurofibromatosis (NF). These tumors often present as deep soft tissue lesions, arising from the nerve plexuses of the extremities or from the nerves extending from the trunk. They rarely occur in the skin, especially in patients with NF. Herein, we report our experience with an MPNST of the skin in a patient with NF.

• Clinical and Experimental Pediatrics
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• 제64권4호
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• pp.165-166
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• 2021

• Journal of Yeungnam Medical Science
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• 제36권1호
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• pp.63-66
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• 2019

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Superficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cases have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.