• Archives of Craniofacial Surgery
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• v.21 no.1
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• pp.41-44
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• 2020

In general, patients with neurofibromatosis type I have a higher risk than those with other types of neurofibromatosis of developing soft-tissue sarcomas related to the nervous system. We here present a 42-year-old man with neurofibromatosis type I who developed a protruding mass over only 2 weeks. The histopathological diagnosis was epithelioid sarcoma. Epithelioid sarcomas are rare and, to the best of our knowledge, no epithelioid sarcomas have been reported in patients with neurofibromatosis type I. Radical excision of the primary lesion was performed and postoperative radiotherapy and chemotherapy administered, as is recommended for epithelioid sarcoma. Our case emphasizes that patients with neurofibromatosis type I may develop malignant tumors.

• Journal of Korean Neurosurgical Society
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• v.29 no.4
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• pp.550-554
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• 2000

Most extracranial schwannomas are solitary, but neurofibromas are frequently associated with other manietations of neurofibromatosis. Schwannomas that occur within the context of neurofibromatosis tend to be multiple, but multiple schwannomas without manifestation of neurofibromatosis type 2 are very rare. The authors report a very rare case of multiple spinal intradural schwannomas in the absence of neurofibromatosis Type 2 maniestations. A 40-year-old man suffered from longstanding low back pain and left side sciatica which was treated with two stage operations. MRI showed multiple intradural mass lesions extending from L1 vertebral segment to S1 vertebral segment. There were no clinical and radiological manifestations of Type 2 neurofibromatosis. Histologically confirmed diagnosis was schwannoma.

• Korean Journal of Head & Neck Oncology
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• v.16 no.1
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• pp.87-91
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• 2000

Neurofibromatosis type I or Von Recklinghausen's disease can occur at any site in the body. It is characterized by multiple $c\'{a}fe\;\'{a}u\;l\'{a}it$ spots on the skin-more than six spots greater than 1.5cm-, neurofibromas of the peripheral and centarl nervous system, and variety of other dysplastic abnormalities of the skin, bones, endocrine organs, nervous systems, and blood vessels. It is an autosomal dominant trait disease with a frequency of 1 of 3000. Neurofibromatosis is known to be complicated by malignancies. Neurofibromatosis is progressive disease and shows a marked variations in expression in affected individuals. In this report we describe a male patient with neurofibromatosis type I developed in the parapharyngeal space. The patient had huge mass at left parapharyngeal space and inguinal area. We successfully treated the patient with surgery without complication.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.556-561
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• 2008

Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

• Korean Journal of Head & Neck Oncology
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• v.13 no.1
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• pp.86-89
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• 1997

Neurofibromatosis, now termed neurofibromatosis type I, is known as a congenital and familial disease presenting abnormalities of the skin, nervous system, bones, and soft tissue. We experienced a case of extremely large neurofibromatosis which developed on the orbital and temporal region of a 24-year-old man. The tumor was widely excised including normal skin margin, outer table of cranium, a part of zygoma and maxilla. Bony defect was reconstructed by rib bone graft and secondary cosmetic correction of blepharoptosis was performed using supratarsal fixation in postoperative 6 months.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.448-452
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• 2005

Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most common major manifestation of renal involvement in this disease. However, we experienced a case of ectopic kidney concurrent with neurofibromatosis type 1. The diagnosis of neurofibromatosis had been made by typical skin manifestation on physical examination, and ectopic kidney was discovered accidentally during routine abdominal sonography. The etiological basis of this association is not clear. We report a rare case of coexisting neurofibromatosis and ectopic kidney in a 7-year-old girl with a brief review.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.93-96
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• 2005

Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree from the proximal aorta to the small arteries but these changes are most common in the renal arteries, aorta, celiac arteries and mesenteric arteries. Of the many complications observed in neurofibromatosis type I, cerebrovascular lesions may be the least appreciated. About 40 cases of neurofibromatosis type I associated with occlusive cerebrovascular disorders have been reported in the literature, but MRI and angiographic findings typical of moyamoya disease are rarely described. We experienced a case of moyamoya disease associated with neurofibromatosis type I in a 3-year-old girl who of complained gait disturbance and paraparesis and showed findings typical of moyamoya disease on MRI and carotid angiogram.

• The Journal of Pediatrics of Korean Medicine
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• v.15 no.2
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• pp.69-73
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• 2001

The neurofibromatosis (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. NF causes tumors to grow anywhere on or in the body. It also leads to developmental abnormalities. For example, individuals with NF have a higher incidence of learning disabilities. Neurofibromatosis(NF) has been classified into two distinct types: NF-I and NF-II. neurofibromatosis 1(NF-I), also known as von Recklinghausen NF or Peripheral NF, occurring in 1:4,000 births, is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities. Neurofibromatosis 2(NF-II), also known as Bilateral Acoustic NF(BAN), is much rarer occurring in 1:50,000 births. NF-II is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom. We reported a 10-year-old female patient with NF-I, she has pain and edema in left leg, no symptoms of NF.

• Journal of Chest Surgery
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• v.40 no.4 s.273
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• pp.317-320
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• 2007

Neurogenic tumors are the most common posterior mediastinal tumors and accounting for $19{\sim}39%$ of all mediastinal tumors and 75% of all posterior mediastinal tumors. Neurofibromatosis is an autosomal dominant disorder with variable expression of tumors, including neurologic tumors of the peripheral nerves, nrve roots, and plexi. A posterior mediastinal neufibroma in neurofibromatosis patients is rare. We report here a case of posterior mediastinal neurofibroma in a patient with type 1 neurofibromatosis.

• Journal of Chest Surgery
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• v.21 no.4
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• pp.766-771
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• 1988

Von Recklinghausen`s neurofibromatosis, tuberous sclerosis and encephalotrigeminal angiomatosis[Sturge-Kalischer-Weber syndrome] are frequently classified under the heading of organic neurocutaneous syndromes. Both neurofibromatosis and tuberous sclerosis are believed to represent instances of simple autosomal dominant heredity. Multiple neurofibroma and cafe*-au-lait spots are the hallmarks of the van-Recklinghausen`s disease. The characteristic features of the fully developed syndrome are [1] pigmentation of the skin, including cafe*-au-lait spots, pigmented freckles and males, and occasionally a generalized darkening of the skin; [2] subcutaneous nodules and deep neurofibromatous tumors and diffuse plexiform growths of neural tissue; [3] skeletal anomalies, especially scoliosis; and [4] predilection to malignancy. In recent years cystic lung disease, usually of the so-called honeycomb lung variety, has been reported on several occasions in patients with tuberous sclerosis. This association has been shown to our sporadically as well as in members of a single family. 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, pheochromocytoma, meningocele or, less commonly, parenchymal pulmonary neurofibromatosis. Author have experienced a case of von Recklinghausen`s disease. This case developed a huge neurofibroma in the both side thorax and invaded to the Lt. 7th rib.