• Archives of Plastic Surgery
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• v.33 no.6
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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.

• Journal of Chest Surgery
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• v.13 no.2
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• pp.149-153
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• 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 Korean Academy of Oral and Maxillofacial Radiology
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• v.24 no.1
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• pp.181-188
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• 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.

• Journal of Genetic Medicine
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• v.11 no.1
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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).

• Nuclear Medicine and Molecular Imaging
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• v.43 no.4
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• pp.361-362
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• 2009

We present a patient with high $^{18}$F-fluorodeoxyglucose (FDG) uptake detected in a neurofibroma that was confused with sarcomatous transformation on a positron emission tomography/computed tomography (PET/CT) scan. A 39-year-old male patient with a 20-year history of neurofibromatosis-1 (NF-1) performed FDG PET/CT scan for the evaluation of lesions with sarcomatous transformation. The FDG PET/CT images demonstrated varying degrees of increased FDG uptake in the multiple nodules throughout whole body. The left pelvic mass with the highest FDG uptake had a maximum standardized uptake values (maxSUV) 5.0 and surgical resection was performed. Histological analysis confirmed the presence of a benign neurofibroma infiltrated with inflammatory cells.

• Clinics in Shoulder and Elbow
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• v.10 no.2
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• pp.236-240
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• 2007

Reports of bowing and pseudarthrosis of the humerus and clavicle are rare. Most patients with congenital pseudoarthrosis of the clavicle involving the right side and midportion of clavicle tended to heal better than congenital pseudoarthrosis of the tibia. We experienced a patient who had special features in terms of location, pseudoarthrosis pattern, and neurofibromatosis, and report on this case here.

• Korean Journal of Head & Neck Oncology
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• v.37 no.2
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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.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.50 no.1
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• pp.49-55
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• 2024

Neurofibromatosis type 1 (NF1) is an autosomally dominant tumor suppressor syndrome and multisystem disease. Central giant-cell granulomas (CGCGs) can be seen in patients with NF1. A 21-year-old female was diagnosed with two CGCGs, one in the mandible and then one in the maxilla, in a 7-year period. Increased incidence of CGCGs in NF1 patients was thought to be caused by an underlying susceptibility to developing CGCG-like lesions in qualitatively abnormal bone, such as fibrous dysplasia. However, germline and somatic truncating second-hit mutations in the NF1 gene have been detected in NF1 patients with CGCGs, validating that they are NF1-associated lesions. Oral manifestations in patients with NF1 are very common. Knowledge of these manifestations and the genetic link between NF1 and CGCGs will enhance early detection and enable optimal patient care.

• Archives of Plastic Surgery
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• v.38 no.3
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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.

• Clinics in Shoulder and Elbow
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• v.16 no.2
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• pp.135-140
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• 2013

We report a case of recurrent shoulder dislocation and combined proximal humerus fracture in neurofibromatosis type I. A twenty-year-old male patient with known neurofibromatosis type I presented with right shoulder dislocation and proximal humerus fracture following a minor trauma. His injured arm also had large plexiform neurofibromas on the elbow, and the dislocation of the shoulder joint was proven to be recurrent. Bony deformation of the humerus and scapula were revealed on X-ray and computed tomography, as well as multiple neurofibromatic changes of the deltoid and periscapular muscles were noted on magnetic resonance imaging. Open reduction and capsular reconstruction were performed and humeral fracture was stabilized with a reconstruction plate. Satisfactory union and functional result were achieved and the dislocation did not recur until the 7-month followup after the procedure. Recurrent shoulder dislocation and combined proximal humerus fracture in neurofibromatosis type I are rare complications. However, it should still be considered in the orthopaedic evaluation process of the diseases.