Results 41 to 50 of about 1,400 (148)
Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen [PDF]
, 2016 La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelées phacomatoses. C'est une affection autosomique dominante relativement rare.
Amrani, R +4 more
core +2 more sources
Skin Research and Technology, Volume 30, Issue 9, September 2024.Abstract Background Cutaneous neurofibromas (cNFs) are a major cause of disfigurement in patients with Neurofibromatosis Type 1 (NF1). However, clinical trials investigating cNF treatments lack standardised outcome measures to objectively evaluate changes in cNF size and appearance.
Jonathan C. L. Lau +12 more
wiley +1 more source
The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]
, 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
Symptomatic tumors in neurofibromatosis type 1:A diagnostic challenge [PDF]
, 2023 Neurofibromatosis type 1 (NF1) is a hereditary, progressive and unpredictable disease, which can involve many organs. Benign and malignant tumors arise due to unrestrained cell division and cell growth.
Broen, Martijn P.G. +5 more
core
Journal of Neuroimaging, Volume 34, Issue 1, Page 138-144, January/February 2024.Abstract Background and Purpose Thalamic hypometabolism is a consistent finding in brain PET with F‐18 fluorodeoxyglucose (FDG) in patients with neurofibromatosis type 1 (NF1). However, the pathophysiology of this metabolic alteration is unknown. We hypothesized that it might be secondary to disturbance of peripheral input to the thalamus by NF1 ...
Cansu Özden +10 more
wiley +1 more source
Revista Portuguesa de Pneumologia, 2009 O hemotórax espontâneo é uma complicação rara e potencialmente fatal da neurofibromatose. Vários mecanismos patológicos são descritos para a vasculopatia associada à doença: a) invasão dos vasos por tumores adjacentes, como shwannoma, neurofibroma ou ...
Alexandra Bento, Ana Paula Gonçalves
doaj
Wachstumsstörungen als Leitsymptom [PDF]
, 2018 Zusammenfassung: Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3.Perzentile der Norm bzw.
Rauch, A., Thiel, C.
core
Tumeur maligne des gaines nerveuses périphériques révélant une neurofibromatose type 1 [PDF]
, 2010 La Neurofibromatose type 1 (NF1) ou maladie de Von Recklinghausen est une affection à expression clinique variable. La transformation maligne est rare et redoutable.
Boudawara, T +10 more
core +2 more sources
Sclérose tubéreuse de Bourneville, recensement cantonal [PDF]
, 2015 Contexte : La sclérose tubéreuse de Bourneville (STB) est une maladie génétique dont la majorité des cas est dûe à des mutations de novo. Son incidence est approximativement de 1/6'000 nouveau-nés.
NICOD, O.
core
Spécificité de la transformation sarcomateuse de la maladie de Recklinghaussen : a propos de deux cas et revue de la littérature [PDF]
, 2014 5 à 10% des patients atteints de neurofibromatose de type 1 (NF1) développent des tumeurs malignes des gaines des nerfs périphériques (Malignant peripheral nerve sheath tumor: MPNST) contre 0.001% dans la population générale. A travers deux observations
Benjaafar, N +5 more
core +2 more sources