Results 1 to 10 of about 30,032,344 (197)

Clinical Masks of Neurofibromatosis Type 1

open access: yesАрхивъ внутренней медицины, 2022
Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj   +2 more sources

Neurofibromatosis type 1: a single center's experience in Korea [PDF]

open access: yesKorean Journal of Pediatrics, 2014
PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system.
Min Jeong Kim, Chong Kun Cheon
doaj   +1 more source

A case of solitary digital glomus tumor associated with neurofibromatosis type 1

open access: yesSAGE Open Medical Case Reports, 2023
An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai   +8 more
doaj   +1 more source

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

open access: yesOrphanet Journal of Rare Diseases, 2020
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to ...
Christina Bergqvist   +6 more
doaj   +1 more source

An Uncommon Presentation of Pheochromocytoma in Neurofibromatosis Type 1 and the Importance of Long-Term Follow-Up

open access: yesActa Médica Portuguesa, 2022
Neurofibromatosis type 1 (NFT1) is a disease caused by mutations in the tumor suppressor gene NF1. It is associated with a higher incidence of chromaffin cell tumors which are usually adrenal, unilateral and benign.
Inês Henriques Vieira   +3 more
doaj   +1 more source

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

open access: yesItalian Journal of Pediatrics, 2018
Background Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in
Claudia Santoro   +10 more
doaj   +1 more source

Neurofibromatosis 1 with pheochromocytoma

open access: yesIndian Journal of Endocrinology and Metabolism, 2011
Von Hippel-Lindau (VHL) disease includes a wide spectrum of highly vascular tumors like pheochromocytoma, cysts and adenomas of the pancreas and kidney, endolymphatic sac and renal cell carcinoma.
K. V. S Hari Kumar   +3 more
doaj   +1 more source

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

open access: yesJournal of Medical Case Reports, 2012
Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu   +5 more
doaj   +1 more source

Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis

open access: yesJournal of Obstetric Anaesthesia and Critical Care, 2014
Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh   +4 more
doaj   +1 more source

An innovative resection of giant neurofibromas

open access: yesChinese Journal of Plastic and Reconstructive Surgery
Background: Plexiform neurofibromas (PNF) are highly vascular tumors with the potential for significant growth. Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.
Zhichao Wang   +7 more
doaj   +1 more source

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