Results 61 to 70 of about 1,927 (190)
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
Familial Spinal Manifestations of Neurofibromatosis Type 1 : A Report of Two Cases
Neurofibromatosis type 1 (NF1) is a common inherited autosomal dominant disease. The most frequent manifestations are cutaneous and neurological. We report a case of familial deforming neurofibromatosis type 1 in a mother and daughter causing slow cord ...
Julie Marie Adeline W Kyelem +7 more
doaj +1 more source
Progesterone and Estrogen Receptors in Neurofibromas of Patients with NF1
Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is a genetic disorder affecting the growth of cells in nervous system. One of the most remarkable characteristics of this disease is the development of benign tumors of the nervous system ...
Mauro Geller +9 more
doaj +1 more source
Charakterisierung molekulargenetischer Prognosefaktoren auf dem kurzen Arm des Chromosoms 1 in humanen Meningeomen. [PDF]
Meningeome, zumeist benigne Neoplasien des ZNS, stellen bis heute in manchen Fällen eine diagnostische und therapeutische Herausforderung dar: Zum einen ist für die kleine Gruppe der atypischen und anaplastischen Tumoren das Grading aufgrund ...
Bertalanffy, Helmut (Prof. Dr. med.) +1 more
core +1 more source
Piebaldisme: une génodermatose rare
Le piebaldisme est une génodermatose rare de transmission autosomique dominante. Il est du à l'absence congénitale des mélanocytes aux zones touchées. Nous en rapportant un cas.
Fatima Zahra Debbarh +1 more
doaj +1 more source
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
Néphrectomie bilatérale de sauvetage compliquant une sclérose tubéreuse de Bourneville
La sclérose tubéreuse de Bourneville (STB) est une phacomatose autosomique dominante en rapport avec la mutation de deux gènes suppresseurs de tumeurs TSC1 et TSC2.
Mohamed El Amrani, Mounia Azizi
doaj +1 more source
Vitiligo is a skin disease of unknown etiology that affects 1% of the population. It affects both sexes equally and the mean age at onset is between 10 and 30 years.
Bedin, Valcinir +4 more
core +3 more sources
The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]
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
RÉSUMÉ Les masses parotidiennes, fréquentes en pratique clinique, englobent un large éventail de diagnostics différentiels incluant lésions inflammatoires, bénignes et malignes. Les neurofibromes plexiformes, caractéristiques de la neurofibromatose de
F. Fall +4 more
doaj +1 more source

