Results 61 to 70 of about 1,245 (197)

Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review

open access: yesNeurology 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

Neurofibromatosis tipo I y Síndrome de Klippel-Trenaunay

open access: yesRevista 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  

Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et Neurofibromatose de Von Recklinghausen

open access: yesThe 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

open access: yesOrphanet 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

The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]

open access: yes, 2015
Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P   +3 more
core  

Normal obstetric outcome in neurofibromatosis-1 complicating pregnancy [PDF]

open access: yes, 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

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo‐controlled trial

open access: yesDevelopmental 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

Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study

open access: yesClinical Epidemiology, 2019
Giorgio Tettamanti,1 Hanna Mogensen,1 Ann Nordgren,2,3 Maria Feychting11Institute of Environmental Medicine, Unit of Epidemiology, Karolinska Institutet, Stockholm, Sweden; 2Department of Molecular Medicine and Surgery, Center for Molecular Medicine ...
Tettamanti G   +3 more
doaj  

Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review

open access: yesArchives 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

Extracranial neurogenic tumors of the head and neck,

open access: yesBrazilian Journal of Otorhinolaryngology, 2015
INTRODUCTION: Peripheric nerve tumors typically derive from Schwann cells of the peripheral nerve sheet. Since these tumors are uncommon, they should be considered in preoperative differential diagnosis.
Otávio Alberto Curioni   +6 more
doaj   +1 more source

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