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

• Journal of Korean Neurosurgical Society
• /
• 제30권sup1호
• /
• pp.140-143
• /
• 2001

We report a case of huge trigeminal schwannoma in a 10-year-old boy with neurofibromatosis type II, extending into the three spaces of the left middle, posterior, and infratemporal fossa. Initially we thought the child had a solitary trigeminal schwannoma, and most of the mass was resected successfully through one-stage operation, cranio-orbito-zygomatic intradural approach. However during the follow-up of the patient we found radiographically other multiple intracranial tumors of bilateral acoustic schwannomas, right trigeminal schwannoma, and foramen magnum tumor. Eventually the patient was diagnosed as neurofibromatosis type II presenting multiple intracranial tumors. We think childhood trigeminal schwannoma, even though in the case of solitary tumor, should be considered as possible initial manifestation of neurofibromatosis type II and that careful follow-up for the possibility of occurrence of other brain tumors such as schwannomas or meningiomas is necessary.

• 대한두경부종양학회지
• /
• 제9권1호
• /
• pp.49-55
• /
• 1993

Neurofibromatosis is an autosomal deminant neurocutaneous systemic disease characterized by multiple Cafe-au-lait spots. generalized cutaneous neurofibromatosis. central nervous system tumors. skeletal defects and a myriad of somatic and endocrinologic abnormalities. It occurs in about 1:3000 live births and both sexes are equally affected. From 1989 to 1992, 21 patients who admitted to our department were evaluated in clinical aspects. Then we conclude as follows: 1) The onset was usually before 10 years of age. and the incidence between the sexes was approximately the same. 2) The familial tendency was approximately 48%. 3) The head and neck were the usual sites of the disease. 4) Bone changes occurred in about 24%. 5) Most of the tumor could be removed through early diagnosis to prevent recurrence. bone changes and malignant changes. And at the same time, trough reconstructive surgery, results both functionally as well as aesthetically satisfactory could be achieved.

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

• 대한기관식도과학회지
• /
• 제11권2호
• /
• pp.36-39
• /
• 2005

Neurofibromatosis type II is an autosomal dominant, highly penetrant disease whose hallmark is bilateral vestibular schwannoma. Hearing loss is the most symptom in Neurofibromatosis type II. The patient can also present with tinnitus, disequilibrium, and headache. Cranial nerve symptoms, such as facial numbness or weakness, dysphagia, or hoarseness, can also be present. The authors experienced a case of neurofibromatosis type II having huge retropharyngeal mass, retropharyngeal abscess, and bilateral acoustic neuromas. The infection was controled with aggressive antibiotics with drainage. The huge neurilemmoma in retropharyngeal space was removed successfully via transoral approach. The authors report the case with literature review.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
• /
• 제49권3호
• /
• pp.152-156
• /
• 2023

Plexiform neurofibroma is a rare benign tumor and a special subtype of neurofibromatosis 1. This report is a literature review with a case of patient with facial hemorrhage observed at the site of neurofibroma removal in the right lower face due to minor trauma. Through PubMed search, using terms ((facial hematoma) OR (facial bleeding)) AND (neurofibromatosis), 86 articles were identified, and five related articles (six patients) were finally selected. Of the six patients, two had previously undergone embolization. However, as a result, all patients received open surgery to remove hematomas. The hemostatic methods mentioned were vascular ligation (five patients), hypotensive anesthesia (two patients), and postoperative blood transfusion (four patients). In conclusion, spontaneous or minimally traumatic bleeding is possible in neurofibromatosis patients. In most cases, it can be resolved by vascular ligation under hypotensive anesthesia. Optionally, prior embolization and supplementary tissue adhesive may be used.

• 대한소아치과학회지
• /
• 제38권2호
• /
• pp.187-193
• /
• 2011

신경섬유종증(neurofibromatosis)은 골조직, 신경계, 연부조직, 피부 및 내분비계 장애를 수반하며 상염색체 우성을 보이는 유전질환으로 제17번 염색체의 장완에 위치한 종양 억제 유전자의 변성에 의해 발생한다. 임상적으로 진단에 도움을 주는 특정적인 소견들 중 가장 중요한 것은 신경섬유종(neurofibroma)이고 그 외에 밀크 커피색을 띠는 밀크 커피색 반점(cafe-au-lait spot)과, 홍채결절(Lisch nodule)이 있다. 신경섬유종증이 비교적 구강 내에서 발현하는 비율은 비교적 낮은 것으로 알려져 있고, 대부분의 경우 단독 혹은 다수의 신경섬유종이 존재하는 연조직 변화와 관련되어 있다. 최근 전북대학교 병원에서 제1 형 신경섬유종증으로 진단받고, 치아우식증 치료를 위해 본원 소아치과에 내원한 만 4세의 남아와 그의 아버지에게서 제1형 선경섬유종증의 특징적인 치과적 소견을 발견하였기에 치료 경과와 함께 보고하는 바이다.

• Clinics in Shoulder and Elbow
• /
• 제1권1호
• /
• pp.132-137
• /
• 1998

환자 및 아버지의 cafe-au-leit반점으로 유전적 소인을 인정할 수 있는, 쇄골의 저성장 및 미란성 변화를 동반한 신경섬유종증 1례를 치험한 바, 상기 환자의 골격계의 변형이 신경섬유종증의 골막침범에 의한 압박 및 그로 인한 영양효과(trophiceffect)로 인한 것임을 확인할 수 있었다.

• Journal of Chest Surgery
• /
• 제21권6호
• /
• pp.1111-1116
• /
• 1988

Neurofibromatosis is very rare syndrome characterized by abnormal cutaneous pigmentation and numerous skin tumors was described by Smith in 1849, which is inherited as an autosomal dominant trait. Von Recklinghausen reported 2 cases of multiple skin and subcutaneous tumors in 1982. Malignant peripheral nerve tumors, although generally rare, are one of the most characteristic malignant tumors associated with Neurofibromatosis. We have experienced 3 cases of malignant Schwannoma in neurofibroma patients from 1982 to 1988 for 6 years at Thoracic and Cardiovascular surgery department, College of Medicine, Yonsei University, Seoul, Korea. l. One is 62 years old female who was taken total hysterectomy followed by irradiation treatment due to Uterine Carcinoma 21 years ago. She had a large bulging mass on left anterior chest wall and was taken enbloc resection of tumor including rib confirmed malignant Schwannoma. 2. Another is 18 years old female who had large bulging mass on right chest wall and pleural effusion in right thoracic cavity. Thoracentesis revealed a large amount of lymphocytes misdiagnosed of Tbc, pleurisy with Neurofibromatosis. We performed tissue biopsy on bulging mass and the specimen was confirmed malignant Schwannoma 2 months after first diagnosis of Tbc. pleurisy. She was not accessible to radical resection because of far advanced malignant Schwannoma at that time. 3. Third case is 28 years old male who was taken enbloc resection of tumor including rib due to Neurofibroma with Neurofibromatosis at M. hospital 6 months ago. But he had rapid growing mass at operation site again and taken tissue biopsy confirmed of malignant Schwannoma. He was not accessible to enbloc resection due to malignant Schwannoma extending to mediastinal structures.

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