Results 21 to 30 of about 1,775 (150)

Abordagem cirúrgica de neurofibroma gigante Surgical correction of a giant neurofibroma

Revista Brasileira de Cirurgia Plástica, 2012
Neurofibromatose é uma doença de origem genética autossômica dominante composta por três tipos: neurofibromatose tipo 1 (NF1), neurofibromatose tipo 2 (NF2) e schwannomatose.
Iana Silva Dias, Salustiano Gomes de Pinho Pessoa, José Everardo Macedo, Débora Juaçaba Cavalcante, Júlio César Garcia de Alencar   +4 more
doaj   +1 more source

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del) : an update of genotype-phenotype correlation [PDF]

, 2018
Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame
Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Callens, Tom, Cannon, Ashley, Chen, Yunjia, Claes, Kathleen, Collins, Felicity, De Luca, Alessandro, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Gomes, Alicia, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Hicks, Alesha D, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T, Kannu, Peter, Koczkowska, Magdalena, Korf, Bruce R, Legius, Eric, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Martin, Yolanda, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Messiaen, Ludwine M, Miller, David T, Mori, Mari, Ojeda, Mayra Martinez, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Sharp, Angela, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, van Minkelen, Rick, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Wimmer, Katharina, Zackai, Elaine   +69 more
core   +7 more sources

Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen

The Pan African Medical Journal, 2015
La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelé phacomatose. C'est une affection autosomique dominante relativement rare.
Anass Es seddiki, Sahar Messaoudi, Dounia Jaafar, Anass Ayyad, Rim Amrani   +4 more
doaj   +1 more source

La neurofibromatose de type I

The Pan African Medical Journal, 2014
La neurofibromatose de type 1 (NF1) ou maladie de Recklinghausen est une génodermatose autosomique dominante, elle touche de 1/3000 à 1/4000 personnes. La NF1 est caractérisée par une variabilité de son expression clinique qu'on peut retrouver au sein de
Kbira El Morabite, Baderddine Hassam
doaj   +1 more source

Oral manifestations of Type I Neurofibromatosis in a family [PDF]

, 2011
Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I).
Khan, Mubeen, Ohri, Neera
core   +1 more source

Neurofibromatose 1: à propos d'un cas historique

The Pan African Medical Journal, 2014
La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie génétique fréquente. C'est une affection autosomique dominante qui se caractérise par une expression clinique variable au sein d'une même famille.
Nada El Moussaoui, Nadia Ismaili
doaj   +1 more source

Neurofibromatose tipo 1 em idade pediátrica: o que vigiar?

Acta Médica Portuguesa, 2008
Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. It is an autosomal dominant hereditary condition, although an half of all cases are related with spontaneous mutations. Mutations within NF1 gene (c17q11.2) result in loss
Cristina L Martins, J Paulo Monteiro, Anabela Farias, Rita Fernandes, Maria José Fonseca   +4 more
doaj   +1 more source

Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report [PDF]

, 2016
Elephantiasis neuromatosa (EN) can arise from a plexiform neurofibroma of the superficial and deep nerves developing from a hyperproliferation of the perineural connective tissue infiltrating adjacent fat and muscles.
Dealis, Cristina, Loschi, Pietro, Mandel, Victor Desmond, Martorana, Davide, Pecchi, Annarita, Pellacani, Giovanni, Pollio, Annamaria, Ponti, Giovanni, Seidenari, Stefania, Tomasi, Aldo   +9 more
core   +1 more source

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

Molecular Genetics & Genomic Medicine, 2019
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with equal sex incidence that is characterized by neurofibromas, café‐au‐lait macules, axillary freckling, optic pathway tumor, distinctive osseous lesion, and iris Lisch nodules.
Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang   +6 more
doaj   +1 more source

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source