Results 51 to 60 of about 1,775 (150)

Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review

Neurology 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, Inshal Jawed, Ali Farhan, Vikash Karmani, Agha Muhammad Wali Mirza, Farah Alam, Hina Khan, Abdul Haseeb, Mohammad Omer Alam, Javed Iqbal, Brijesh Sathian, Abu Huraira Bin Gulzar   +11 more
wiley   +1 more source

KNOWLEDGE AND SELF-ESTEEM IN INDIVIDUALS WITH NEUROFIBROMATOSIS TYPE 1 (NF1) [PDF]

, 2015
Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized mainly by café-au-lait macules, Lisch nodules, as well as cutaneous and subcutaneous neurofibromas among other traits.
Vaughn, Kayla
core  

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]

, 2010
Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean, Alba Marina Hernández, María Carmen Valero, Elisabete Hernández-Imaz, Yolanda Martín, Concepción Hernández-Chico   +5 more
core   +1 more source

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

, 2018
Purpose: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Diepold, Miriam, Fleischhauer, Johannes, Goeggel Simonetti, Barbara, Nauer, Claude, Schindera, Christina, Steinlin, Maja, Wingeier, Kevin   +6 more
core  

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1) [PDF]

, 2018
In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)—and questionnaire-based screening instrument were assessed.
Catsman-Berrevoets, C.E. (Coriene), Dieleman, G.C. (Gwen), Dierckx, B. (Bram), Eijk, S. (S.), Elgersma, Y. (Ype), Hoopen, L.W. (Leontine) ten, Legerstee, J.S. (Jeroen), Mous, S.E. (Sabine), Nijs, P.F.A. (Pieter) de, Oostenbrink, R. (Rianne), Rietman, A.B. (André), Thornton, A.S. (Andrew)   +11 more
core   +2 more sources

Mirdametinib (Gomekli) wins FDA approval, bringing relief to NF‐1 patients with surgically inoperable plexiform neurofibromatosis worldwide

Malignancy Spectrum, Volume 2, Issue 3, Page 171-172, September 2025.
Memuna J. Zeb
wiley   +1 more source

Frequency and Characteristics of Gastrointestinal Diseases in Patients With Neurofibromatosis

JGH Open, Volume 9, Issue 4, April 2025.
ABSTRACT Background and Aim Patients with neurofibromatosis (NF) frequently experience gastrointestinal symptoms, but the specific characteristics of these lesions are not well understood. Methods To investigate the prevalence and nature of gastrointestinal diseases in this population, we analyzed the gastrointestinal lesions identified through ...
Manami Honda, Masaya Iwamuro, Takehiro Tanaka, Yasushi Yamasaki, Seiji Kawano, Sakiko Hiraoka, Yoshiro Kawahara, Motoyuki Otsuka   +7 more
wiley   +1 more source

Caracterización clínica de pacientes con neurofibromatosis segmentaria Clinical characterization of patients with segmental neurofibromatosis

Revista de Ciencias Médicas de Pinar del Río, 2012
La neurofibromatosis tipo 1 es la enfermedad monogénica más frecuente en la especie humana. En su clasificación se describe la variante segmentaria como forma clínica especial, poco frecuente, caracterizada por máculas "café con leche" o neurofibromas ...
Miladys Orraca Castillo, Anitery Travieso Téllez   +1 more
doaj  

Genotype–Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights

Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.
ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova, Pavlina Skalicka, Lubica Dudakova, Andrea L. Vincent   +3 more
wiley   +1 more source

Neurofibromatosis Type‐1 Lung Disease Complicated by Pleuroparenchymal Fibroelastosis

Respirology Case Reports, Volume 13, Issue 3, March 2025.
Here we present a case of a 28‐year‐old man with neurofibromatosis type‐1 lung disease and pleuroparenchymal fibroelastosis leading to recurrent pneumothoraxes requiring intervention. ABSTRACT Neurofibromatosis type‐1 is a rare autosomal dominant disease, due to the loss of the NF1 tumour suppressor gene.
Abhir Nainani, Hugh Buzacott, Nicole Goh
wiley   +1 more source