Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh +76 more
core +1 more source
Reliability of functional outcome measures in adults with neurofibromatosis 1
Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 and to ascertain how closely objective and subjective measures align.
Rebecca L Mullin +5 more
doaj +1 more source
Retrospective cohort study of morphological features of recurrent schwannomas and neurofibromas
Recurrences of benign peripheral nerves sheaths tumours (BPNST) after total resection were described in 2.6–11.0% of patients. The significance of the histological features of recurrent BPNST is still insufficiently studied.Aim.
D. A. Murzaeva +4 more
doaj +1 more source
Estrogen activation of microglia underlies the sexually dimorphic differences in Nf1 optic glioma-induced retinal pathology [PDF]
Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic pathway. Nearly 50% of children with optic pathway gliomas (OPGs) experience visual impairment, and few regain their vision after chemotherapy.
Anne C. Solga +37 more
core +2 more sources
Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis
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
Extensive Plexiform Neurofibroma Presenting as Clitoromegaly in Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder with multisystem involvement. Genitourinary involvement of neurofibromatosis type 1 is rare condition and involvement of plexiform neurofibroma can cause painful clitoromegaly. A 9-year-old
Özlem Nalbantoğlu +4 more
doaj +1 more source
Intrascrotal Solitary Neurofibroma [PDF]
A BSTRACT Solitary Neurofibroma of the scrotum is a rare benign tumour, particularly when it is not associated with neurofibromatosis Type I, hence, less number of cases have been reported in the English literature.
Abhishek Gupta, Suhas N Jajoo
doaj +1 more source
The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
core
Benign retroperitoneal schwannoma presenting as colitis: A case report [PDF]
We report a case of a patient presenting with clinical , radiological and endoscopic features of colitis due to a compressive left para-aortic mass.
Claes, Kathleen +7 more
core +2 more sources
Incidental Finding of Isolated Colonic Neurofibroma
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla +3 more
doaj +1 more source

