• Archives of Plastic Surgery
• /
• v.40 no.1
• /
• pp.57-61
• /
• 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.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
• /
• v.24 no.1
• /
• pp.181-188
• /
• 1994

Neurofibromatosis, or Von Recklinghausen's disease is inhereted as an autosomal dominent neurocutaneous systemic disease. It is characterized by multiple Cafe-au-lait spots, generlaized cutaneous neurofibromas. It affects one in 3000 births. We observed the clinical, radiologic and histopathologic findings of 3 cases of neurofibromatosis and obtained following results. 1. All patients had multiple Cafe-au-lait spots and neufibromas. 2. Two patients had radiographic changes of pressive erosion and mesodermal dysplasia. 3. Two patients had plexiform neurofibromas and 1 patient had diffuse neurofibromas. Conclusively, we classified these 3 cases as NF-I.

• Korean Journal of Head & Neck Oncology
• /
• v.37 no.2
• /
• pp.77-80
• /
• 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.

• Clinical Pain
• /
• v.18 no.2
• /
• pp.97-101
• /
• 2019

Tardy ulnar nerve palsy is ulnar neuropathy at or around elbow and commonly evaluated in the electromyography laboratory. However, ulnar neuropathy at the elbow due to neurofibroma is rare. Neurofibromas are tumors that arise within nerve fasciculi and anywhere along a nerve from dorsal root ganglion to the terminal nerve branch. We report one case of ulnar neuropathy at the elbow due to neurofibroma. Patient had paresthesia on the left 5th finger and there had been left hypothenar atrophy since 2 months ago. Tinel's sign was positive at left elbow. As a result of electromyography, there were suggestive of right ulnar neuropathy at or around elbow, referred to as tardy ulnar nerve palsy. Ultrasonography showed a diffuse tortuous thickening with multiple neurofibromas arising from individual fascicles of the ulnar nerve in cubital tunnel area. Surgery was then performed to release cubital tunnel of left elbow, then the patient's symptoms improved.

• Archives of Plastic Surgery
• /
• v.38 no.4
• /
• pp.398-400
• /
• 2011

Purpose: Subungual tumors are a common cause of nail plate deformity, and may be caused by fibrokeratoma, Koene's tumor and glomus tumors. Neurofibromas, either as part of neurofibromatosis or as a solitary tumor are exceptionally rare in the digits. Methods: A 44-year-old man presented with painless onychodystrophy and nail plate elevation of the right thumb due to a small subungual mass that had started growing 3 years ago. Sensory evaluation of the distal phalanx was normal, and no discoloration nor infection signs were seen. The nail plate was extracted under local anesthesia, and the mass was delicately removed without injury to the nail bed. The nail matrix was repaired with primary closure. Results: Histopathology shows a well circumscribed, cellular tumor with myxoid stroma. Tumor cells were S-100 protein positive, and the patient was diagnosed with myxoid neurofibroma. There has been no sign of recurrence to date, 14 months after the operation. Conclusion: Presentation of cutaneous neurofibromas in the digits is an uncommon finding. They may occur as a manifestation of neurofibromatosis or as a solitary tumor. Subungual neurofibromas are exceptionally rare. To our knowledge, there are only ten reports of solitary subungual neurofibroma unrelated to neurofibromatosis to date. We report a rare case of solitary subungual myxoid neurofibroma of the thumb, that was treated through total excision, with preservation of the nail matrix.

• Journal of Chest Surgery
• /
• v.13 no.2
• /
• pp.149-153
• /
• 1980

Von Recklinghausen's disease is a systemic hereditary disorder with varied manifestations in bone, soft tissue, nervous system, and skin, the most common of which is the developement of multiple, small, cutaneous tumors with a characteristic histologic picture. Tumors develop after birth and before puberty in most cases, and they increase in number until old age. Malignant neoplasms that complicate multiple neurofibromatosis include gliomas of the optic nerve, astrocytomaas of the cerebral and cerebellar hemispheres, and sarcomas of peripheral nerves (femoral, tibial and intercostal nerves) and somatic soft tissues. Little attention has been paid to the presence of cystic lung disease in association with neurofibromatosis. Currently, most think of thoracic involvement in neurofibromatosis in terms of posterior mediastinal neuroma, pheochrocytoma, meningocele or, less commonly parenchymal pulmonary neurofibromas. Author have experienced 2 cases of Von Recklinghausen's disease. One case developed a hyge malignant Schwannoma in the parietal pleura of left 4th intercostal space and multiple benign neurofibromas (two in intercostal spacees and one in the neck) , and the other has several episodes of pneumothorax resulting from diffuse cystic lung disease which required closed thoracotomy drainage.

• Journal of the Korean Society of Radiology
• /
• v.82 no.5
• /
• pp.1321-1327
• /
• 2021

Neurofibromatosis type 1 (NF1) is a relatively common inherited disorder characterized by the formation of neurofibromas, pigmentary abnormalities of the skin, Lisch nodules of the iris, and skeletal abnormalities. Multiple cutaneous neurofibromas are benign nerve sheath tumors and the main manifestation of NF1. Cardiac neurofibroma associated with NF1 is very rare, and few cases have been reported in the literature. Herein, we present the CT and MRI findings of a surgically confirmed left ventricular neurofibroma in a 32-year-old female with NF1.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.37 no.2
• /
• pp.240-245
• /
• 2010

Neurofibromatosis type 1, an autosomal dominant disorder with prevalence of 1 per 3000 people, has clinical features of cafe au lait spots in skin, multiple neurofibroma and dysplasia in skeletal, endocrinal, and blood vessel systems. Actual intraoral neurofibromas are known to occur in 25% of patients. A 9 year-old girl diagnosed with type 1 neurofibromatosis visited our hospital with chief complaint of gingival swelling. Gingival enlargement in lower anterior region existed and cafe au lait spots were confirmed in patient' skin. Enlarged gingival tissue were excised under local anesthesia. Neurofibroma was confirmed with biopsy. Clinical examination after months showed fine recovery without any evidence of recurrence. Due to its possibility of recurrence, periodic follow-up will be needed.

• Journal of Korean Neurosurgical Society
• /
• v.52 no.2
• /
• pp.138-143
• /
• 2012

Objective : This is a retrospective review of 22 surgically treated benign and malignant tumors of brachial plexus region to describe clinical presentation, the characteristics of brachial plexus tumor and clinical outcomes with a literature review. Methods : Twenty-one patients with consecutive 22 surgeries for primary brachial plexus tumors were enrolled between February 2002 and November 2011 were included in this study. The medical records of all patients were reviewed. Results : Eleven male and 10 female patients were enrolled. Mean age was 39 years. Three patients had brachial plexus tumor associated with neurofibromatosis (13.6%). Presenting signs and symptoms included parenthesis and numbness (54.5%), radiating pain (22.7%), direct tenderness and pain (27.2%), palpable mass (77.3%). Twelve patients presented preoperative sensory deficit (54.5%) and 9 patients presented preoperative motor deficit (40.9%). Twenty tumors (90.9%) were benign and 2 tumors (9.1%) were malignant. Benign tumors included 15 schwannomas (68.2%), 4 neurofibromas (18.2%) and 1 granular cell tumor (4.5%). There were 1 malignant peripheral nerve sheath tumor (MPNST) and 1 malignant granular cell tumor. Gross total resection was achieved in 16 patients (72.7%), including all schwannomas, 1 neurofibroma. Subtotal resection was performed in 6 tumors (27.3%), including 3 neurofibromatosis associated with brachial plexus neurofibromas, 1 MPNST and 2 granular cell tumor in one patient. Conclusion : Resection of tumor is the choice of tumor in the most of benign and malignant brachial plexus tumors. Postoperative outcomes are related to grade of resection at surgery and pathological features of tumor.

• Archives of Plastic Surgery
• /
• v.38 no.1
• /
• pp.109-112
• /
• 2011

Purpose: Neurofibromas may present as multiple or solitary lesions. Although there is no predilection site for solitary lesions, they are rare on the hand. In addition, solitary intramuscular neurofibromas are a very rare pathological type. Here, we report a rare solitary intramuscular neurofibroma in the hand. This paper examines the clinical characteristics of intramuscular neurofibroma arising from the lumbricalis in order to enable a correct diagnosis and treatment. Methods: A 32-year-old male presented with a painless mass on the palm. The physical examination revealed a $3{\times}2$ cm protruding mass that was non-tender to palpation. The vascular and sensory examinations were unremarkable, while the motor examination showed mild difficulty with flexion and extension. Magnetic resonance imaging demonstrated an enhancing solid mass between the thenar eminence and second metacarpophalangeal joint. The diagnosis of an intramuscular neurofibroma was confirmed following surgical excision and histological evaluation. Results: The pathological examination was consistent with a neurofibroma, with delicate fascicles and loose fusiform cells in a fibrous stroma, with oval or spindle-shaped nuclei and scant cytoplasm. The background matrix was pale staining and had focal myxoid stroma. There was no significant nuclear pleomorphism and no mitoses. Immunohistochemistry with S-100 was slightly positive. At the 6-month follow-up, motor and sensory function were intact and the range of motion was full. Conclusion: A neurofibroma is a rare tumor of the hand, especially the intramuscular type. Hand surgeons should consider the diagnosis of this tumor based on the examination and imaging.