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Tardy Ulnar Nerve Palsy by Neurofibroma

Lee SC, Koh SH, Kim C

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...
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Multiple Trichoepitheliomas Identified in a Patient with Neurofibromatosis Type 1

Cho MY, Park SH, Roh MR

  • KMID: 2470229
  • Korean J Dermatol.
  • 2019 Dec;57(10):653-654.
No abstract available.
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Coincidence of Dermal Melanocyte Hamartoma and Becker's Nevus in a Patient with Neurofibromatosis Type 1

Kim YJ, Choi ME, Lee MW, Choi JH, Chang SE

  • KMID: 2470219
  • Korean J Dermatol.
  • 2019 Dec;57(10):632-634.
Dermal melanocytosis is characterized by an increased number of ovoid to elongated melanocytes situated between collagen fibers in the dermis, including blue nevus, Mongolian spots, nevus of Ota and Ito...
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Synchronous Gastrointestinal Stromal Tumor and Ampullary Neuroendocrine Tumor in Association with Neurofibromatosis Type 1: A Report of Three Cases

Park EK, Kim HJ, Lee YH, Koh YS, Hur YH, Cho CK

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. The pathogenesis of NF1 is suggested to be an alteration of the NF-1 gene, which normally functions as a tumor...
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Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature

Akarsu S, İlknur T, Avcı C, Fetil E

We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple café-au-lait macules...
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Bilateral Segmental Neurofibromatosis with Lentiginosis Showing a Checkerboard Pattern

Park SH, Lee SH, Kim SC

  • KMID: 2454374
  • Korean J Dermatol.
  • 2019 Jul;57(6):328-331.
Segmental neurofibromatosis, a subtype of neurofibromatosis type 1, is characterized by neurofibromas and/or café-au-lait spots limited to an area or segment of the body. Checkerboard pattern is a rare type...
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Giant Plexiform Neurofibroma of the Perineum and Pelvic Cavity Manifesting as Segmental Neurofibromatosis

Park MJ, Seong GH, Park M, Choi MS, Hong SP, Park BC, Kim MH

Segmental neurofibromatosis (SN) is rare form of neurofibromatosis characterized that cutaneous or neural changes are limited to one region of the body. SN present neurofibroma and less frequently, café au...
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Anesthesia management in a case of Von Recklinghausen neurofibromatosis

Govil N, Adabala V

No abstract available.
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Superficial malignant peripheral nerve sheath tumor from recurrent neurofibroma in the abdominal wall of a patient without neurofibromatosis type 1

Jung CY, Bae JM, Choi JH, Jung KH

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...
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A Case of Duodenal Ganglioneuroma Manifesting as a Subepithelial Tumor

Joo DC, Kim GH, Chae CB, Lee SJ, Park DY

Ganglioneuroma of the gastrointestinal tract is a rare tumor that consists of ganglion cells, nerve fibers, and supporting cells of the enteric nervous system. Ganglioneuromas are usually associated with genetic...
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Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review

Kim DH, Lee JS, Shin JW, Kim JA, Jun YJ

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...
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Rapid Redistribution of an Acute Traumatic Epidural Hematoma in a Patient with Invasive Skull Cancer

Lee H, Hwang SC, Lee AL, Kim CG, Im SB

The rapid spontaneous resolution of an acute epidural hematoma (EDH) has rarely been reported. A possible mechanism of spontaneous resolution is egress of the hematoma into the subgaleal space through...
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A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma

Yang EH, Kim YM, Kim KJ, Cha SH, Kwak MJ

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the...
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Increased arterial stiffness causing resistant hypertension in an adolescent with Neurofibromatosis type 1

Cho MJ

Neurofibromatosis type 1 is an autosomal dominant genetic disorder characterized by the presence of café au lait spots, axillary and inguinal freckling, Lisch nodules, and neurofibromas. Hypertension is a relatively...
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Attention Deficit Hyperactivity Disorder in Neurofibromatosis Type 1: Evaluation with a Continuous Performance Test

Cohen R, Halevy A, Aharon S, Shuper A

BACKGROUND AND PURPOSE: The objective of this study was to determine if the MOXO visual- and vocal-distractors-based continuous performance test distinguishes patients with attention deficit hyperactivity disorder (ADHD) and neurofibromatosis...
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A Case Report of Precocious Puberty in Children Associated with Hypothalamic Hamartoma in Neurofibromatosis Type 1

Lee SA, Kim JH, Kim SJ

Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that presents with multiple café-au-lait spots, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. Mutations of the NF1 gene, encoding the protein...
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Pseudoaneurysm after Knee Arthroscopic Synovectomy in a Septic Arthritis Patient

Lee SJ, Sohn OJ, Ryu SM, Na H, Yun WS

Arthroscopic synovectomy is a widely-used method to treat septic knee arthritis. To date, many authors have reported minimal complications related to arthroscopic treatment, especially vascular injuries. A three-dimensional computed tomography...
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A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma

Seo Y, Jeong Y, Kim DY, Choi K, Kim ES, Moon SD, Han JH

No abstract available.
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Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

Kim HJ, Seo GH, Kim YM, Kim GH, Seo EJ, Ra YS, Choi JH, Yoo HW, Lee BH

PURPOSE: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene....
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Pulmonary Hypertension in Patient with Neurofibromatosis Type 1

Lee YM, Yang TH, Jung H, Oh TS, Song JH, Yu SJ

Neurofibromatosis type 1 (NF1) is a rare genetic disease. Precapillary pulmonary hypertension (PH) with NF1 is an extremely severe complication. A 65-year-old woman was admitted in our hospital with 3-year...
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