Results 11 to 20 of about 1,042 (103)

High Grade Dysplastic Rectal Adenoma in a Young Patient With Café-Au-Lait Spots: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Colorectal cancer screening guidelines typically focus on familial history and age‐related risk factors, yet Café‐au‐lait macules could serve as early indicators for tailored surveillance protocols. This case underscores the importance of considering extracolonic manifestations in young patients presenting with colorectal symptoms.
Hamdan A, Zeid RA, Khalil J, Karam K, Fiani E.   +4 more
europepmc   +2 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

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

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

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Co‐Occurrence of Agminated Lentigines, Café‐Au‐Lait Macules, and Vitiligo: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Lentigines, café‐au‐lait macules (CALMs), and vitiligo are pigmentary disorders that seldom occur together in a single individual. Their co‐occurrence may indicate underlying genetic syndromes requiring differential diagnosis. We report an 18‐year‐old male who developed CALMs at age 11, agminated lentigines at age 13, and vitiligo on the right
Xinxin Lei, Bo Xie
wiley   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, Volume 16, Issue 4, Page 803-813, April 2026.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source