Results 31 to 40 of about 3,865 (164)

A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum [PDF]

Clinical and Molecular Hepatology, 2016
Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common.
Kyung Han Lee, Sun Hong Yoo, Gi Tark Noh, Won Suk Heo, Byung Seong Ko, Jung Ah Chio, Hyo Jin Cho, Jin Young Choi, Hee Jun Kim, Won Sohn, Sang Jong Park, Young Min Park   +11 more
doaj   +1 more source

Plexiform Neurofibroma Involving the Lacrimal Gland

Case Reports in Ophthalmology, 2017
Background: To present a rare case of a 2-year-old girl with neurofibromatosis type 1 (NF1) who presented with ptosis of the right upper eyelid along with a tumor in the eyelid.
Mikael Hofsli, Nico Gampenrieder, Steffen Heegaard   +2 more
doaj   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Plexiform Neurofibroma of Face: A Challenge for Plastic Surgeons

Journal of the Dow University of Health Sciences, 2009
Plexiform neurofibroma is a benign tumour of peripheral nerves and connective tissue. They developmost often in patients with neurofibromatosis type 1 (NF1) and often grow continuously.
Muhammad Ahmad, Saleem A. Malik
doaj   +4 more sources

Solitary Plexiform Neurofibroma of the Gingiva: Unique Presentation in the Oral Cavity [PDF]

Journal of Clinical and Diagnostic Research, 2013
Neurofibromas are benign tumours originating from the nerve sheath. Amongst the histological variants, plexiform types are considered exclusive. These are poorly circumscribed, locally invasive and may exhibit sarcomatous potential.
SURAMYA S., PRATIBHA SHASHIKUMAR, SHREESHYLA H.S., SHEELA KUMAR G.   +3 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Interferon‐induced transmembrane (IFITM) proteins at the tumour–immune interface: A four‐axis framework for their context‐dependent roles

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Interferon‐induced transmembrane (IFITM) function in cancer is set by four contextual coordinates, not by family membership. Acute interferon input drives major histocompatibility complex class I (MHC‐I)‐linked immunogenicity; chronic input drives programmed death‐ligand 1 (PD‐L1)‐coupled resistance.
Zhe Liu, Jie Meng, Zengyan Lai, Fuqiu Li, Sha Lv   +4 more
wiley   +1 more source

Giant plexiform neurofibroma with hemorrhage in cranio-maxillofacial region as depicted on CT and MRI

European Journal of Medical Research, 2010
Plexiform neurofibroma (PN) is a rare benign tumor and a special subtype of neurofibromatosis type 1 (NF1). Though the incidence is low, giant PN of the craniomaxillofacial region could result in severe hemifacial hypertrophy which is known as a typical ...
Feng Y, Yang Z, Chen T, Wang Q, Deng W
doaj   +1 more source

Challenging Management of Plexiform Schwannoma and Plexiform Neurofibroma

Journal of Craniofacial Surgery, 2021
Abstract Plexiform variants of neurofibromas and schwannomas are rare and typically arise in superficial soft tissues in the head and neck region. The treatment of these tumors is challenging and no generally accepted guidelines exist for their optimal management.
Nicoli, Taija K, Saat, Riste, Tarkkanen, Jussi, Kinnunen, Ilpo, Mäkitie, Antti A., Jero, Jussi   +5 more
openaire   +4 more sources

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors

Genes, Chromosomes and Cancer, Volume 65, Issue 8, August 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas and the most common cause of disease‐associated death for neurofibromatosis type 1 (NF1) patients. In the context of NF1, MPNSTs develop from benign premalignant precursors and the transition to malignancy is typically accompanied by loss of the polycomb ...
Madilyn R. Stahl, Christopher M. Stehn, Zachary J. Seeman, Christopher Faulk, David A. Largaespada   +4 more
wiley   +1 more source