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[Plastic surgical treatment of neurofibromatosis type 1].
Chirurgie (Heidelb)
January 2025
Universitätsklinik für Plastische, Rekonstruktive und Ästhetische Chirurgie, Medizinische Universität Wien, Wien, Österreich.
Neurofibromatosis type 1 (NF1, formerly Recklinghausen's disease) is a genetic tumor predisposition syndrome in which the mutation of a tumor suppressor gene (neurofibromin) leads to the development of mostly benign neurofibromas of the skin and the central and peripheral nervous systems and malformations or tumors of other organ systems. Patients with NF1 should receive lifelong interdisciplinary care in specialized centers and important treatment decisions should be made by a regularly meeting interdisciplinary panel of experts. Plastic surgery plays an important role in the multidisciplinary management of all clinical forms of NF1-associated peripheral nerve sheath tumors, from cutaneous and subcutaneous to deep nodular and diffuse plexiform neurofibromas.
View Article and Find Full Text PDFTypical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and café au lait spots: A case report.
Biomed Rep
February 2025
Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China.
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1.
View Article and Find Full Text PDFGenetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.
Abdom Radiol (NY)
December 2024
Department of Radiology, The First Affiliated Hospital, Sun Yat-Sen University, No.58, Second Zhongshan Road, Yuexiu District, Guangzhou, Guangdong, 510080, China.
Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis.
View Article and Find Full Text PDFAppendiceal neurofibroma after resection of multiple gastrointestinal stromal tumors of the small intestine in a patient with neurofibromatosis type 1: a case report.
Surg Case Rep
November 2024
Division of Hepato-Biliary-Pancreatic Surgery, Shizuoka Cancer Center, Shizuoka, Japan.
Article Synopsis
- * A 68-year-old man with NF1 had multiple small intestinal GISTs causing anemia and underwent surgery to remove them; two years later, he developed an enlarging mass in the appendix that was surgically removed due to concerns about its potential malignancy.
- * Post-surgery, the diagnosis of an appendiceal neurofibroma was confirmed, highlighting the challenge in identifying these lesions preoperatively and stressing the importance of surgical
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