• 제목/요약/키워드: Neurofibromatosis Type 1

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종격동 악성 말초 신경 초종으로부터 유방 전이의 영상 소견: 증례 보고 (Imaging Findings of Breast Metastasis from Malignant Peripheral Nerve Sheath Tumor of Mediastinum: A Case Report)

  • 박소형;박지연;주미
    • 대한영상의학회지
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    • 제84권3호
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    • pp.770-775
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    • 2023
  • 악성 말초 신경 초종은 드문 연부조직 종양으로, 주로 몸통, 사지, 두경부에 주로 위치하며, 유방에는 드물다. 저자들은 신경섬유종증 1을 가진 27세 여자 환자에서 유방으로 전이된 악성 말초 신경 초종 증례를 보고하고자 한다. 흉부 단층촬영에서 오른쪽 유방에 경계가 분명한 타원형의 약간 조영 증강되는 종괴가 보였다. 초음파에서 혈류와 증등도의 탄성을 가진 경계가 분명한 타원형의 비균질한 에코의 종괴로 보였다. 유방 종괴는 수술로 제거되었고, 악성 말초 신경 초종으로 최종 진단되었다. 드물지만, 악성 말초 신경 초종은 신경섬유종증 1을 가진 환자에서 유방 종괴의 감별진단에 포함되어야 한다.

신경섬유종증 환자에 발생한 거대 악성말초신경초종의 치험례 (A Large Malignant Peripheral Nerve Sheath Tumor in the Neurofibromatosis Patient: A Case Report)

  • 최동일;서동국;조우성;정철훈;조성진
    • Archives of Plastic Surgery
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    • 제33권6호
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    • pp.761-763
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    • 2006
  • Purpose: Malignant peripheral nerve sheath tumors most often arise from the anatomically discernible peripheral nerve or neurofibroma. Methods: A 55-year-old man had a rapidly growing pedunculated large mass on the sacrolumbar junction for 2 years. He has congenital neurofibromatosis type I. He had multiple caf-au-lait spots and multiple neurofibromas on the entire body. The mass developed from a subcutaneous nodule on the sacrolumbar junction and grew rapidly. The preoperative punch biopsy revealed a malignant peripheral nerve tumor. The mass was completely excised with 1 cm free margin above the deep fascial plane. Results: There was no evidence of recurrence of tumor for 19 months of follow-up examination. Conclusion: Malignant peripheral nerve sheath tumor is very rare and has unique feature. We report a successful case of malignant peripheral nerve sheath tumor with the review of the literatures.

Radiofrequency Ablation and Excision of Multiple Cutaneous Lesions in Neurofibromatosis Type 1

  • Kim, Seong-Hun;Roh, Si-Gyun;Lee, Nae-Ho;Yang, Kyung-Moo
    • Archives of Plastic Surgery
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    • 제40권1호
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    • pp.57-61
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    • 2013
  • Background Von Recklinghausen disease or neurofibromatosis type 1 is an autosomal dominant genetic disorder of chromosome 17q11.2. The most common characteristic findings of NF 1 include multiple and recurrent cutaneous neurofibromas associated with psychosocial distress. Methods Sixteen patients (9 female, 7 male; average age, 31 years; range, 16 to 67 years) with multiple cutaneous neurofibromas between March 2010 and February 2012 were included in the study. All patients were treated with radiosurgical ablation and excision under general anesthesia. Results All 16 patients were satisfied with the results, when questioned directly during the outpatient department follow-up. The only complaint from a few patients was minimal scarring, but acceptable results were obtained in the end. Conclusions The radiofrequency procedure is almost bloodless and quick, creating a smaller necrotizing zone. Therefore, instead of employing the time consuming traditional surgery, such as laser therapy and electrosurgical excision, that produces uncertain results and can affect normal adjacent tissue, treatment of neurofibromas with radiofrequency ablation and excision can be an alternative choice of treatment for patients with a large number of neurofibromas.

Diffuse Neurofibroma Presenting with Spontaneous Intra-Tumoral Hemorrhage

  • Kwak, Seung-Won;Han, Young-Min;Park, Young-Sup
    • Journal of Korean Neurosurgical Society
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    • 제39권6호
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    • pp.459-463
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    • 2006
  • This report describes a case of diffuse neurofibroma[DNF] that presented with spontaneous intratumoral hemorrhage. A 31-year-old man with cutaneous manifestations typical of neurofibromatosis type 1[NF1] was referred to hospital with a progressively expanding scalp swelling. Magnetic resonance imaging[MRI] showed an acute hematoma surrounded by a dense mass on the parietooccipital scalp. Plain skull radiographs and a computed tomography[CT] scan revealed bony defects in the occipital bone around the lambdoid suture and the skull base, including the sphenoid and petrous bones. The tumor extended to the upper cervical region and infiltrated through the fascia of the musculature. The tumor and adjacent soft tissue were highly vascular, which made surgical resection difficult. We describe the clinical, radiological and pathological features of this patient md discuss the surgical methods used to avoid a life-threatening hemorrhage during surgery.

유지 인대의 외부 고정을 통한 제1형 신경섬유종증 환자의 안면부 변형 교정 (External Fixation of Retaining Ligament in Correction of Facial Disfigurement in Type-1 Neurofibromatosis Patients)

  • 명유진;이윤호
    • Archives of Plastic Surgery
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    • 제38권3호
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    • pp.257-262
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    • 2011
  • Purpose: In neurofibromatosis patients, complete surgical excision of the mass is almost impossible and surgical treatment usually consists of multiple serial excisions that only result in a debulking effect. Remnant tumor mass has a gravitational effect on facial soft tissues that leads to sagging of skin and soft tissue, and eventually, facial disfigurement and asymmetry. The purpose of our surgical method is to perform soft tissue lifting with longer lasting effect with less surgical risk of damaging facial nerve and vessels. With external fixation using K-wire or surgical screw, the procedure only called for a short incision length and had additional adhesive properties that enabled anchoring of soft tissue in a lifted position for a longer postoperative period. Methods: A total of 5 neurofibromatosis patients (NF-1) visited our clinic for mass reduction and face lifting. The age of patients ranged from 13 to 42 (mean 28.8 years), and most patients had a long history of multiple excisions in the past. Face lifting was performed in 2 different areas, the periorbital area in 3 patients, and the midface in 2 patients. The materials used in fixation of retaining ligament were K-wire (n=3) and titanium screw (n=2). Results: Follow up period was from 5 month to 3 years and 1 month (mean=2 years and 1 month). All patients conveyed satisfaction with the results and no major complications were reported. The lifting effect lasted for as long as 3 years, and there were no complaints of relapse of soft tissue depression or sagging within the operated area. 1 patient (M/13) needed secondary k-wire insertion and additional mass excision in 1 year and 10 months postoperatively due to tumor growth. In two patients with K-wire fixation, mild dimpling and tenderness were observed in the follow up period, but in about 2 months postoperatively, dimpling was relieved and there was no need for removal of fixating material. Conclusion: Surgical lifting in neurofibromatosis patients can be challenging, for mass excision cannot be done completely and gravitational effect by residual mass can be persistent. External fixation of the retaining ligament in patients with neurofibromatosis can give satisfactory results-for incision length is relatively shorter, and the lifting effect can last longer compared to other various face lifting techniques.

신경섬유종증에 동반된 가성동맥류 파열로 발생한 자연 혈흉 1예 (A Case of Spontaneous Hemothorax Due to Rupture of Pseudoaneurysm in Type 1 Neurofibromatosis)

  • 김순종;정훈;이성순;임채만;이상도;고윤석;김우성;김동순;김원동;심태선
    • Tuberculosis and Respiratory Diseases
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    • 제50권1호
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    • pp.122-126
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    • 2001
  • 저자들은 신경섬유종증 환자에서 우측 내유동맥에 생긴 가성동맥류의 파열로 인한 자연 혈흉을 진단하고 혈관색전술로 치료한 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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Plexiform Neurofibroma Treated with Pharmacopuncture

  • Lim, Chungsan;Kwon, Kirok;Lee, Kwangho
    • 대한약침학회지
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    • 제17권3호
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    • pp.74-77
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    • 2014
  • Objectives: The purpose of this study is to report a case of a plexiform neurofibroma (PNF) in the pelvic region treated with sweet bee venom (SBV) and mountain ginseng pharmacopuncture (MGP). Methods: A 16-year-old girl was diagnosed as having PNFs, neurofibromatosis type 1, 10 years ago and she had surgery three times to remove the benign tumors, but the growth of the PNFs continued. She has been treated in our clinic with SBV and MGP two times per month from March 2010 to April 2014. SBV was injected intra-subcutaneously at the borders of the PNFs in the pelvic region, and MGP was administrated intravenously each treatment time. Results: The growths of the PNFs occurred rapidly and continued steadily before treatment. Since March 2010, she has been treated in our clinic, and the growths of the PNFs have almost stopped; further-more, the discomfort of hip joint pain has been reduced, and her general condition has improved. Conclusion: We cautiously conclude that SBV and MGP treatment has some effects that suppress the growth and the spread of the PNFs in this patient.

말초신경에 생긴 다발성 신경초종 - 증례 보고 3예 - (Multiple Schwannomas in the Peripheral Nerve - 3 Cases Report -)

  • 강호정;이대영;윤홍기;한수봉;박찬일;양석우
    • 대한골관절종양학회지
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    • 제11권1호
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    • pp.105-109
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    • 2005
  • 제 2형 신경섬유종증(Neurofibromatosis)의 임상적 특징 없이 말초에 발생한 티넬징후를 보이는 다발성신경초종(Schwannomatosis) 3례를 경험하여 이를 보고하고자 한다. 주증상은 동통이었으며 3예에서 청장년에서 발생하였다. 발생부위는 상완신경총, 슬와부 그리고 수부였다. 상기 환자 모두에서 이명과 현훈 및 시력저하소견 관찰되지 않았으며 가족력은 없었다. 3예에서 모두에서 두부 자기공명영상 촬영상 전정신경초종(Vestibular schwannoma)이 관찰되지 않았다. 병리소견상 신경초종이 확인되었다. 앞으로 더 많은 증례의 수집과 연구로 다발성 신경초종의 임상양상, 임상경과 그리고 유전학적 특징에 대한 추가적인 연구가 필요할 것으로 사료된다.

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신경섬유종증 환자의 좌골 신경에 발생한 악성 신경초종 - 증례 보고 - (Malignant Peripheral Nerve Sheath Tumor of the Sciatic Nerve in a Patient with Neurofibromatosis - A Case Report -)

  • 송상호;조성우;심창구
    • 대한골관절종양학회지
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    • 제6권2호
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    • pp.77-81
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    • 2000
  • 악성 신경초종은 주로 연부 조직에 발생하는 매우 드문 육종으로 기존의 신경섬유종이나 신경초종에서 발생하기도 하고, 말초신경에서 새로이 발생하기도 하며 방사선 치료 후에 발생하기도 한다. 저자들은 제 1형 신경 섬유종증 환자의 좌골 신경에 발생한 악성 신경초종 1예를 경험하였다. 환자는 신경섬유종증의 기왕력이 있는 3 9세 남자로 최근에 빠르게 성장하는 대퇴후방의 동통성 종괴를 주소로 내원하였다. 경계가 분명한 $6.5{\times}5{\times}4.5$cm 크기의 종괴는 광학 현미경상 촘촘히 압축된 방추상 세포들로 구성되어 있었다. 신경섬유종증 환자는 이차적으로 악성 신경초종의 발생빈도가 높기 때문에 악성화 가능성을 염두에 두고 추시 관찰하는 것이 필요하리라 생각되었다.

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Von Recklinghausen disease병 환아에서 상부위장관 출혈로 발현한 위의 신경섬유종 1례 (Gastric neurofibroma in von Recklinghausen disease : a cause of upper gastrointestinal bleeding)

  • 권보상;심정옥;서정기;양혜란;고재성;정성은;김우선;강경훈
    • Clinical and Experimental Pediatrics
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    • 제49권2호
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    • pp.203-207
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    • 2006
  • 위장관계의 신경섬유종의 발생빈도는 드물다고 알려져 있다. 저자들은 제1형 신경섬유종증의 15세 남자 환아에서 상부위장관 출혈로 발현한 위에 생기는 신경섬유종을 내시경 및 상부위장관 조영술을 통해 진단을 내리고, 수술적 제거를 시행하였던 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.