• Archives of Plastic Surgery
• /
• v.45 no.6
• /
• 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.

• Journal of Korean Neurosurgical Society
• /
• v.38 no.1
• /
• pp.16-22
• /
• 2005

Objective : The authors characterize a syndrome of multiple neurogenic tumors in the spinal canal, which is unclassifiable by the current National Institute of Health[NIH] criteria for neurofibromatosis. Methods : We retrospectively examined cases in which two or more spinal neurogenic tumors were detected by magnetic resonance[MR] imaging and which had been pathologically confirmed. Eighteen patients were recruited between February 1986 and March 2002. According to NIH criteria, eight cases were neurofibromatosis type 1[NF1], four were type 2[NF2], and six were neither type 1 nor type 2 [Unclassifiable : UC]. The locations of lesions, clinical presentations, radiological findings, and pathological results with immunohistochemistry were reviewed. Results : In the case of NF2, three of four cases were intradural tumors. Pathological examinations revealed neurilemmomas in two of four NF2 and all of the UC cases. In the case of NF1, pathological examinations showed seven neurofibromas and one neurilemmoma. Concerning UC, the age at presentation was middle-aged to late [mean age 48.5, range 35 to 64], which contrasted with ordinary NF2, where patients tended to become symptomatic before 20years of age. The pathological examinations of UC cases revealed neurilemmoma similar to most of NF2 and the immunohistochemical study showed characteristic of NF1. Conclusion : Multiple neurogenic tumors in the spinal canal are an under-recognized disease entity. Further studies for genetic aberration in multiple spinal neurogenic tumors are needed.

• Journal of the Korean Society of Radiology
• /
• v.82 no.2
• /
• pp.417-422
• /
• 2021

Neurofibromatosis type 1 (NF1) is a rare neuroectodermal disease that is associated with an increased risk of malignancy. Here, we report a rare case of bilateral breast cancer in a 49-year-old woman with NF1 that presented as a microlobulated oval hypoechoic mass and a complex cystic solid mass on sonography. She underwent bilateral mastectomy. The masses were diagnosed as invasive ductal carcinoma, ductal carcinoma in situ, and a malignant peripheral nerve sheath tumor. We describe the imaging findings, including ultrasonography, CT, and ¹⁸F-fluorodeoxyglucose PET.

• Journal of Genetic Medicine
• /
• v.11 no.1
• /
• pp.40-42
• /
• 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).

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

• The Korean Journal of Pain
• /
• v.26 no.2
• /
• pp.160-163
• /
• 2013

Malignant peripheral nerve sheath tumors (MPNSTs) are very rare sarcomas derived from various cells in the peripheral nerve sheath. Malignant peripheral nerve sheath tumors have a known association with neurofibromatosis type 1. Diagnosis of MPNSTs is difficult in patients with chronic pain, when MPNST occurs at an overlapping area of chronic pain. Therefore, the diagnosis can be missed unless clinicians pay attention to the possibility of this disease. Here in, we report a case of concurrent malignant peripheral nerve sheath tumor with complex regional pain syndrome type 1. A 44-year female patient, who was diagnosed with complex regional pain syndrome (CRPS) type 1 in her left ankle, visited our clinic because of aggravated pain. The cause of the aggravated pain was revealed as concurrent MPNST in the left common peroneal nerve territory, which overlapped the site of pain from CRPS.

• 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.

• Archives of Plastic Surgery
• /
• v.47 no.1
• /
• pp.92-96
• /
• 2020

Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma originating from the sheaths of peripheral nerves. Approximately 50% of MPNSTs occur in patients with neurofibromatosis (NF). These tumors often present as deep soft tissue lesions, arising from the nerve plexuses of the extremities or from the nerves extending from the trunk. They rarely occur in the skin, especially in patients with NF. Herein, we report our experience with an MPNST of the skin in a patient with NF.

• Clinical and Experimental Pediatrics
• /
• v.64 no.4
• /
• pp.165-166
• /
• 2021

• Journal of Yeungnam Medical Science
• /
• v.36 no.1
• /
• pp.63-66
• /
• 2019

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with MPNST have neurofibromatosis type 1 (NF1). NF-associated MPNST occurs more often at younger ages than sporadic MPNST, but the survival difference is controversial. Superficial MPNST from a recurrent neurofibroma is extremely rare and only a limited number of cases have been reported in the literature. Herein, we report an unusual case of superficial MPNST from a recurrent neurofibroma in a patient without NF1.