Results 71 to 80 of about 1,273 (212)
Orphanet Journal of Rare Diseases, 2022 Introduction The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors.
Vanessa L. Merker +6 more
doaj +1 more source
EJC Paediatric Oncology, 2023 Introduction: Malignant Peripheral Nerve Sheath Tumors (MPNST) are very rare and aggressive tumors, which can affect children, adolescents, and young adults. These tumors are frequently associated with type 1 neurofibromatosis (NF1).
Jordane Chaix +18 more
doaj +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source
The Pan African Medical Journal, 2016 Le syndrome de Usher est défini par l'association d''une surdité de perception congénitale de sévérité variable évolutive ou non et d'une rétinopathie pigmentaire progressivement cécitante. La Neurofibromatose de Von Recklinghausen ou Neurofibromatose de
Pépin-Williams Atipo-Tsiba
doaj +1 more source
Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool
Orphanet Journal of Rare Diseases, 2019 Background Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic features, and uncertainty about the ...
Marie-Laure Armand +7 more
doaj +1 more source
Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review
Neurology and Clinical Neuroscience, Volume 13, Issue 3, Page 165-173, May 2025.ABSTRACT A class of hereditary diseases known as neurofibromatoses results in tumor growth on tissue from nerves. The spinal cord, nerves, and brain are among the parts of the nervous framework where these tumors can form. Similar to other genetic disorders, neurofibromatosis discloses complicated phenotypes, exhibiting varying benign and malignant ...
Hina Aslam +11 more
wiley +1 more source
Normal obstetric outcome in neurofibromatosis-1 complicating pregnancy [PDF]
, 2016 Neurofibromatosis (NF), a genetic disorder, has increased risk of obstetric complications as well as aggravation of maternal disease. However, here is a case of Neurofibromatosis associated with normal obstetric outcome despite the aggravation of ...
G.S., Anitha +2 more
core +2 more sources
Developmental Medicine &Child Neurology, Volume 67, Issue 4, Page 537-549, April 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16157 In this double‐blind, placebo‐controlled, randomized clinical trial, 31 adolescents with neurofibromatosis type 1 (NF1) were enrolled to test the effects of lamotrigine on cognitive functioning.
Myrthe J. Ottenhoff +21 more
wiley +1 more source
Neurofibromatosis tipo I y Síndrome de Klippel-Trenaunay
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 Se presenta un caso de asociación entre dos enfermedades que afectan la piel y otros órganos: Neurofibromatosis tipo I y Síndrome de Klippel-Trenaunay.
Sahily De la Paz Peña +2 more
doaj
Archives of Plastic Surgery, 2018 Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults.
Dong Hwi Kim +4 more
doaj +1 more source