Results 111 to 120 of about 39,307 (247)

Bone absorption and deformity in mandible as initial symptom and manifestation of neurofibromatosis type 1: A case report and literature review

Oral Oncology Reports
Neurofibromatosis type 1 (NF-1) is an autosomal dominant inherited genodermatosis disease and tumor susceptibility syndrome with a prevalence of 1/6000–1/3000 reported in most epidemiological studies and 1/3333–1/2558 in live births.
Lini Deng, Yi Wang, Xianwang Xiang, Chuanjun Chen   +3 more
doaj   +1 more source

Equatorial Staphyloma Associated with Neurofibromatosis Type 1

Case Reports in Ophthalmology, 2016
We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye
Yoshiaki Shimada, Masayuki Horiguchi
doaj   +1 more source

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach

Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 2128248579 ...
Brown RM, Lalvani S
core  

ISCHEMIC RETINOPATHY IN NEUROFIBROMATOSIS TYPE 1

, 2015
PURPOSE: To describe a patient with severe ischemic retinopathy and maculopathy in the context of neurofibromatosis Type 1. METHODS: Case report illustrated with multimodal clinical imaging.
Freund, K. B., Jung, J. J., Belinsky, I., Marr, B. P., Dansingani, K. K.   +4 more
core   +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

Plexiform Neurofibroma Without Neurofibromatosis Type 1

, 2020
Plexiform neurofibroma (PNF) is a particular subtype of benign nerve sheath tumors with a reticular growth pattern not respecting tissue borders and involving several nerve branches or fascicles.
Uwe Wollina, Schönlebe, Jacqueline, Wollina, Uwe, Jacqueline Schönlebe   +3 more
core  

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

Malignancy in Neurofibromatosis Type 1

The Oncologist, 2000
Abstract Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncologist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed ...
openaire   +2 more sources

Bilateral Giant Plexiform Neurofibromas In Neurofibromatosis Type 1

, 2002
A single plexiform neurofibroma or two of any type are considered diagnostic of neurofibromatosis type 1 (NF). Plexiform neurofibromas are congenital and pathognomonic for NF-1.
Jeevankumar B, Karthikeyan K, Thappa D . M   +2 more
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Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source