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Neurofibromatosis type I: points to be considered by general pediatricians

Kang E, Yoon HM, Lee BH

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees...
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Bilateral Breast Cancer in a Patient with Neurofibromatosis Type 1: A Case Report

Woo SH, Jung HK, Kim W

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...
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Benign Cephalic Histiocytosis with a Family History of Neurofibromatosis Type 1: A Case Report

Jung JW, Yoon JH, Park EJ, Kim KJ, Kim KH

  • KMID: 2512410
  • Korean J Dermatol.
  • 2021 Jan;59(1):58-60.
Benign cephalic histiocytosis is a rare subtype of non-Langerhans cell histiocytosis of unknown etiology. It usually occurs in infants and children and resolves spontaneously. A 14-month-old infant presented with multiple...
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Lethal Hemomediastinum due to Spontaneous Rupture of an Aberrant Bronchial Artery in a Patient with Neurofibromatosis Type 1: Successful Treatment with Embolization

Im YJ, Choi MJ, Kim BM

Spontaneous bleeding due to vascular involvement of neurofibromatosis type 1 is rare but potentially fatal. Herein, we report a case of a lethal spontaneous hemomediastinum in a patient with neurofibromatosis...
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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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Abdominosacral Resection in the Management of Large-Size Retrorectal Tumors: A Report of 2 Rare Cases

Handaya Y, Wibowo S

Management of large-size retrorectal gastrointestinal stromal tumors (GISTs) is complex and challenging from diagnosis to treatment. This may create technical difficulties in surgical access and complete resection of the tumor....
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A Case of Moyamoya Syndrome Diagnosed by Ophthalmic Examination in a Patient with Moyamoya Disease

Oh WH

PURPOSE: To report a case of moyamoya syndrome after an additional diagnosis of neurofibromatosis type 1 (NF 1) using an ophthalmic examination in a middle-aged patient with moyamoya disease. CASE SUMMARY:...
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Glioblastoma in a Patient with Neurofibromatosis Type 1: A Case Report and Review of the Literature

Jeong TS, Yee GT

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited familial tumor syndrome. Benign tumors such as pilocytic astrocytoma, optic glioma make up the majority of intracranial neoplasms in patients with...
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Multiple Solid Pilocytic Astrocytomas in Cerebellum with Neurofibromatosis Type I: A Case Report

Choi SY, Kim MS, Kim YJ

Pilocytic astrocytoma usually has a classic imaging manifestation of a solitary, cyst-like mass with a strong contrast-enhancing mural nodule. There is only one published report so far of multiple solid...
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Spontaneous Massive Hemothorax in a Patient with Neurofibromatosis Type 1 with Successful Transarterial Embolization

Hongsakul , Rookkapan , Tanutit P, Pakdeejit , Songjamrat A, Sungsiri J

Vascular involvement in neurofibromatosis type 1 is rare but has the potential to be fatal. We report a case of a patient with spontaneous rupture of a left intercostal artery...
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Mutational Analysis of the NF1 Gene in Two Families with Neurofibromatosis 1 Accompanied by Pheochromocytoma

Yi HS, Kim SH, Kim J, Bae EJ, Hong S, Park IB, Kim YJ, Lee S

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders affecting the nervous system. NF1 is associated with mutations in the NF1 gene, which is located...
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Two Cases of Neuroendocrine Carcinoma and GIST in a Patient with Neurofibromatosis Type 1

Choi W, Hong SD, Kim HN, Choi YD, Hwang JE, Shim HJ, Bae WK

  • KMID: 2264163
  • Korean J Med.
  • 2011 Dec;81(6):786-791.
Patients with neurofibromatosis type 1 (NF1) are at increased risk of developing tumors throughout the gastrointestinal tract, including neuromas, gastrointestinal stromal tumors (GISTs), and periampullary somatostatin-rich carcinoids. The simultaneous occurrence...
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Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1

Namgung H

Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with...
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Gastric Outlet Obstruction due to Submucosal Neurofibromatous Proliferation of Duodenal Bulb in Neurofibromatosis Type 1 Patient

Suh BS, Shin DW, Lee JS, Kim SY, Han EM, Jang EJ

Neurofibromatosis type 1 (NF1; also known as von Recklinghausen's neurofibromatosis) is inherited in an autosomal dominant fashion, although it can also arise due to spontaneous mutation. Gastrointestinal involvement of NF1...
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Congestive heart failure due to an iatrogenic arteriovenous fistula in a patient with neurofibromatosis-1

Choi ER, Lee SJ, Kim SM, Choi HJ, Ki CS, Choi YH, Kim DK

  • KMID: 2258106
  • Korean J Med.
  • 2009 Aug;77(Suppl 1):S68-S72.
A 39-year-old woman, who 3 months prior had undergone sono-guided biopsy for pelvic masses, was admitted to our hospital with dyspnea. After the procedure, a large arteriovenous (AV) fistula was...
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A Case of Radiologically Suspected Mesenteric Plexiform Neurofibromas in a Patient with Type I Neurofibromatosis

Oh SM, Kim YO, Son YJ, Woo YJ

  • KMID: 2329433
  • J Korean Child Neurol Soc.
  • 2009 Nov;17(2):226-230.
Neurofibromatosis type I(NF-1) is an autosomal dominant neurocutaneous syndrome characterized by cafe-au-lait spots, optic glioma, skeletal dysplasia, and iris hamartoma. Mesenteric plexiform neurofibromas(PNF) have been rarely reported in NF-1, especially...
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A Case of Malignant Peripheral Sheath Tumor Arising from Neurofibromatosis Type 1

Kang MJ, Kang H, Kim HO, Park YM

Malignant peripheral nerve sheath tumor (MPNST) is a term encompassing tumors previously diagnosed as malignant schwannoma, malignant neurilemmoma, neurogenic sarcoma, and neurofibrosarcoma The occurrence rate of MPNST in neurofibromatosis type...
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Plexiform Neurofibroma Involving the Ascending Colon and its Mesentery in a Child

Park JJ, Choi KJ, Lee SW, Sung SH

  • KMID: 2096377
  • J Korean Surg Soc.
  • 2006 Sep;71(3):238-241.
The neurofibromatosis type 1 (NF-1) is a rare hereditary disease of autosomal dominant fashion with the overall incidence of one in 3,000. It is characterized by cafe-au-lait spots of skin,...
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A Case of Malignant Peripheral Nerve Sheath Tumor Arising from Neurofibromatosis during Pregnancy

Kim HD, Shin HJ, Park YL, Whang KU, Baik SH, Park JS

  • KMID: 2302359
  • Korean J Dermatol.
  • 2006 Jan;44(1):75-78.
Malignant Peripheral Nerve Sheath Tumor is a neoplasm that most often arises in anatomically discernible peripheral nerves or neurofibroma. This rare tumor usually has a strong association with neurofibromatosis type...
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