A case report is given of a 66 year old woman with Recklinghausen's disease, suffering from chronic gastrointestinal bleeding as a rare complication of enteric neurofibromatosis. Localization could be established only by angiography. After resection of the tumor with an ulceration at its tip hemorrhage stopped. The incidence of gastrointestinal neurofibromatosis, as well as its symptoms, diagnosis and treatment are discussed.
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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 PDFMedicina (Kaunas)
December 2024
Department of Pharmacy, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia.
Rupture of the thyrocervical trunk aneurysm into the thoracic cavity does not occur very often. It is an urgent condition due to hemorrhagic shock by massive hemothorax with potentially fatal consequences. Pregnancy and puerperium are additional risk factors for a rupture of the thyrocervical trunk aneurysm in patients with neurofibromatosis and aneurysms.
View Article and Find Full Text PDFBiomedicines
January 2025
Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, 1089 Budapest, Hungary.
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the gene. Although genotype-phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1-33 years).
View Article and Find Full Text PDFArch Pathol Lab Med
January 2025
From the Department of Pathology, University of Michigan Medical School, Ann Arbor.
Context.—: High-grade astrocytoma with piloid features (HGAP) is a newly recognized glioma defined by its methylation profile. Understanding of its clinical, histologic, and molecular characteristics continues to evolve.
View Article and Find Full Text PDFSyst Rev
January 2025
Department of Behavioral Sciences and Social Medicine, College of Medicine, Florida State University, 1115 West Call Street, Tallahassee, FL, 32306-4300, USA.
Background: Individuals with neurofibromatosis type 1 (NF1) frequently report psychosocial problems, among which internalizing and externalizing symptoms are the most poorly understood due to limited research and inconsistent evidence. This hinders the overall attendance of their psychosocial needs and has a major impact on their quality of life. Thus, this systematic review and meta-analysis was conducted to synthesize existing findings on the degree to which individuals with NF1 experience internalizing and externalizing symptoms, compared with the unaffected population, and explore moderators of the group disparities.
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