scholarly journals Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report

2017 ◽  
Vol 8 (2) ◽  
pp. 358-361
Author(s):  
Mario Motta ◽  
Mauro Geller ◽  
Cesar Motta
Keyword(s):  
Case Report ◽  
General Anesthesia ◽  
Female Patient ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Histopathological Analysis

We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.

scholarly journals Legius Syndrome in a 13 Month Old Boy: A Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Learning Disabilities ◽  
Case Report ◽  
Developmental Delay ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Legius Syndrome

Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/ inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are also known.

scholarly journals Pharmacological Approaches in Neurofibromatosis Type 1-Associated Nervous System Tumors

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3880
Author(s):  
Omar Rabab’h ◽  
Abeer Gharaibeh ◽  
Ali Al-Ramadan ◽  
Manar Ismail ◽  
Jawad Shah
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Neurofibromatosis Type ◽  
Pharmacological Interventions ◽  
Nervous System Tumors ◽  
The Usa ◽  
Underlying Pathogenesis

Neurofibromatosis type 1 is an autosomal dominant genetic disease and a common tumor predisposition syndrome that affects 1 in 3000 to 4000 patients in the USA. Although studies have been conducted to better understand and manage this disease, the underlying pathogenesis of neurofibromatosis type 1 has not been completely elucidated, and this disease is still associated with significant morbidity and mortality. Treatment options are limited to surgery with chemotherapy for tumors in cases of malignant transformation. In this review, we summarize the advances in the development of targeted pharmacological interventions for neurofibromatosis type 1 and related conditions.

scholarly journals Neurofibromatosis Type 1 with Bladder Involvement

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Iyimser Üre ◽  
Serhat Gürocak ◽  
Ipek Isik Gönül ◽  
Sinan Sözen ◽  
Nuri Deniz
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Transmitted Disease ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Benign Disease ◽  
Genitourinary System

Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various clinical manifestations. The bladder is the most commonly affected organ in the genitourinary system. The malignant transformation of the disease is rare, and unlike malign tumors, the treatment option for benign disease is usually conservative. The size and localization of the mass determine the symptoms, most of which are usually not specific. In this paper, we aim to present a 15-year-old patient with neurofibromatosis type 1 with bladder involvement. The clinical presentation and treatment options of this disease are discussed in the light of the literature.

Dystrophic Lumbar Kyphoscoliosis Associated with Giant Dural Ectasia in a 19-Year-Old Patient with Neurofibromatosis Type 1. Case Report

2020 ◽  
Vol 2 (10) ◽  
pp. 1926-1930
Author(s):  
Nicolas Plais ◽  
Peter H. Connolly ◽  
Renaud Lafage ◽  
Debra Jacobs ◽  
Virginie Lafage ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Dural Ectasia

Widespread deformation of the tongue in a neurofibromatosis type 1 patient: A case report

2017 ◽  
Vol 29 (6) ◽  
pp. 555-558
Author(s):  
Gen Udagawa ◽  
Takuya Naganawa ◽  
Akira Kumasaka ◽  
Yasuhiro Fujimoto ◽  
Yuichi Akagi ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

NEUROFIBROMATOSIS TYPE 1 SYNDROME: TWO CASES WITH DIFFERENT CLINICAL MANIFESTATIONS

2017 ◽  
Vol 124 (2) ◽  
pp. e71
Author(s):  
DIRCEU VIRGOLINO DE OLIVEIRA ◽  
VALBER BARBOSA MARTINS ◽  
MARCELO VINICIUS DE OLIVEIRA ◽  
GUSTAVO CAVALCANTI DE ALBUQUERQUE ◽  
JOEL MOTTA JUNIOR ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type

scholarly journals High-Dose Intravenous Vitamin C Treatment of a Child with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Case Report

2016 ◽  
Vol 17 ◽  
pp. 774-781 ◽  
Author(s):  
Nina Mikirova ◽  
Ronald Hunnunghake ◽  
Ruth C. Scimeca ◽  
Charles Chinshaw ◽  
Faryal Ali ◽  
...  
Keyword(s):  
Case Report ◽  
Vitamin C ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
High Dose ◽  
Optic Pathway ◽  
Intravenous Vitamin
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