• Title/Summary/Keyword: Neurofibromatoses

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Leptomeningeal Carcinomatosis of Gastric Cancer Misdiagnosed as Vestibular Schwannoma

  • Kim, Shin-Jae;Kwon, Jeong-Taik;Mun, Seog-Kyun;Hong, Young-Ho
    • Journal of Korean Neurosurgical Society
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    • v.56 no.1
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    • pp.51-54
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    • 2014
  • Gastric cancer is one of the most common causes of cancer-related death in Asian countries, including Korea. We experienced a case of leptomeningeal carcinomatosis (LC) from gastric cancer that was originally misdiagnosed as vestibular schwannoma based on the similar radiological characteristics. To our knowledge, LC from gastric cancer is very rare. In conclusion, our experience with this case suggests that clinicians should consider the possibility of delayed leptomeningeal metastasis when treating patients with gastric cancer.

Current concepts of neurofibromatosis type 1: pathophysiology and treatment

  • Choi, Jaemin;An, Sungbin;Lim, So Young
    • Archives of Craniofacial Surgery
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    • v.23 no.1
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    • pp.6-16
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    • 2022
  • Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising.

Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review

  • Kim, Dong Hwi;Lee, Ji Sung;Shin, Jong Weon;Kim, Jean A;Jun, Young Joon
    • Archives of Plastic Surgery
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    • v.45 no.6
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    • pp.583-587
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    • 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.

Radiofrequency Ablation and Excision of Multiple Cutaneous Lesions in Neurofibromatosis Type 1

  • Kim, Seong-Hun;Roh, Si-Gyun;Lee, Nae-Ho;Yang, Kyung-Moo
    • Archives of Plastic Surgery
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    • v.40 no.1
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    • pp.57-61
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    • 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.