Neurofibromas and schwannomas are common lesions that may be idiopathic or may occur in association with neural crest genetic syndromes such as neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. A hybrid tumor that contains pathological characteristics of both neurofibroma and schwannoma has been described as a rare entity. We present the clinical, radiographic, and pathological findings of such a case.
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http://dx.doi.org/10.7759/cureus.548 | DOI Listing |
Int J Lab Hematol
January 2025
Department of Pathology, University of Southern California Keck School of Medicine, Los Angeles, California, USA.
J R Coll Physicians Edinb
January 2025
AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.
Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by café-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn't show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis.
View Article and Find Full Text PDFTransl Cancer Res
December 2024
Department of Pathology, Jieyang People's Hospital, Jieyang, China.
Background: Neurofibromatosis type 1 (NF-1), a rare autosomal dominant disorder, arises from gene mutations affecting neurofibromin, a Ras GTPase regulator. These mutations activate Ras proteins, triggering clinical symptoms such as skin spots, epilepsy, pain, and tumors. Although gastrointestinal stromal tumors are well-known in NF-1, diffuse intestinal ganglioneuromatosis remains an extremely rare complication.
View Article and Find Full Text PDFArch Dis Child
January 2025
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Objective: The aim of this study was to evaluate the acceptability and feasibility of home-based blood pressure (BP) screening in a group of paediatric patients with known elevated risk of developing hypertension.
Design: Cross-sectional study.
Setting: Specialist outpatient clinic and patient homes.
Cureus
December 2024
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling.
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