Results 21 to 30 of about 2,776 (190)

Quality of life assessment in schwannomatosis – A systematic review [PDF]

Brain and Spine
Introduction: The term schwannomatosis refers to rare genetic disorders characterized by the development of multiple tumors within the central and/or peripheral nervous system.
Anna C. Lawson McLean, Steffen K. Rosahl, Aaron Lawson McLean, Pascal Fehringer, Anna Freier, Denise Löschner, Marcel A. Kamp, Christian Senft, Andreas K. Demetriades   +8 more
doaj   +2 more sources

Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions

Oncology and Therapy
Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The hallmarks of NF2-related schwannomatosis are bilateral vestibular schwannomas (VS).
Pinan Liu
exaly   +2 more sources

Screening of potential novel candidate genes in schwannomatosis patients

, 2022
Schwannomatosis comprises a group of hereditary tumour predisposition syndromes characterised by, usually benign, multiple nerve sheath tumours, which frequently cause severe pain that does not typically respond to drug treatments.
Schlecht, Helene, Charlton, Chris, Smith, Philip T., Robinson, Rachel, Wallace, Andrew J., Gokhale, Carolyn, Evans, D. Gareth; id_orcid, Smith, Miriam J.; id_orcid, Perez-Becerril, Cristina, Bowers, Naomi L., Eaton, Helen, Charlton, Ruth S.   +11 more
core   +12 more sources

Neurofibromatosis and Schwannomatosis

Seminars in Neurology, 2018
Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families.
Scott R, Plotkin, Antje, Wick
openaire   +3 more sources

Schwannomatosis: report of a new case [PDF]

Arquivos de Neuro-Psiquiatria, 1992
Schwannomatosis is a rare disorder, still not quite well defined, seldom described in the literature. In this paper we report the case of male. Patient, 52 years old, who in the last 30 years developed five subcutaneous tumors within his limbs peripheral
Nélida S. Garretto, David Monteverde, Héctor Giócoli, Blanca I. Ravera, Hugo A. Molina, Ana Perurena Garayalde, Antonia Ruiz León, Roberto E. P. Sica   +7 more
doaj   +4 more sources

Multiple Schwannomas of the Sciatic Nerve: A Case Report and Literature Review [PDF]

Clinical Case Reports
Schwannomas are common benign tumors originating from the nerve sheath. Sciatic nerve involvement is rare. This case report describes an unusual presentation of multiple schwannomas affecting the sciatic nerve with no history of neurofibromatosis.
Ahmed Siddig Elhadi, Hassan Elbahri, Bashar Elgaali, Hassan M. Ahmed, Yathreb Babakr   +4 more
doaj   +2 more sources

Optimal Delivery of Pain Management in Schwannomatosis: A Literature Review [PDF]

Therapeutics and Clinical Risk Management
Utaro Hino,1 Ryota Tamura,2 Masahiro Toda2 1Department of Neurosurgery, Saiseikai Yokohamashi Tobu Hospital, Kanagawa, Japan; 2Department of Neurosurgery, Keio University School of Medicine, Tokyo, JapanCorrespondence: Ryota Tamura, Department of ...
Hino U, Tamura R, Toda M
doaj   +1 more source

Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis [PDF]

PAIN Reports
. Introduction:. Pain is an often underestimated symptom in patients with neurofibromatosis (NF) and schwannomatosis (SWN), yet it may have a profound impact on health-related quality of life. Objective:. To assess the characteristics of neuropathic pain
Eva Meller, Annsophie Amann, Rayaz A. Malik, Daniel Kampik, Cordula Matthies, Nurcan Üçeyler   +5 more
doaj   +2 more sources

NF2-Related Schwannomatosis

Abstract The management of NF2-related schwannomatosis (SWN) (NF2) is one of the most complex subjects in neurotology. Patients are often debilitated by both the natural history of NF2 tumors and interventions. A variety of treatment options exist, and due to the complexity of clinical decision-making and need for multidisciplinary ...
Nicholas A. Dewyer, Dunia Abdul-Aziz, D. Bradley Welling   +2 more
core   +3 more sources

A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation

Medicina, 2022
Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF).
Jun Hyun Lee, Jae Seok Jeong, Kum Ju Chae, Yeon-Hee Han, So Ri Kim, Yong Chul Lee   +5 more
doaj   +1 more source