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Valeria de Miguel, Andrea Paissan, Patricio García Marchiñena, Alberto Jurado, Mariana Isola, José Alfie and Patricia Fainstein-Day

PHEO/PGL ( 3 ). Renal transplantation and neoplasia Neurofibromatosis ( NF1 ) gene is a tumor suppressor gene that encodes for the protein neurofibromin. This protein downregulates the RAS signaling pathway. RAS is an important oncogene in

Open access

Ravi Kumar Menon, Francesco Ferrau, Tom R Kurzawinski, Gill Rumsby, Alexander Freeman, Zahir Amin, Márta Korbonits and Teng-Teng L L Chung

metabolites. Type 1 neurofibromatosis (NF1) (OMIM 162200) is an autosomal dominant disease with an incidence of one in 3–4000 (2) . It is characterised by multiple café-au-lait spots, intertriginous freckling and neurofibromas. Cerebral and spinal tumours

Open access

Cheuk-Lik Wong, Chun-Kit Fok and Vicki Ho-Kee Tam

Background Neurofibromatosis type-1 (NF-1) is a dominantly inherited genetic disorder with age-dependent penetrance and highly variable expressivity ( 1 ). The causative gene NF1 , located in 17q11.2, is a tumour suppressor gene, which

Open access

Stephanie Teasdale and Elham Reda

3 days of new onset right upper quadrant discomfort. He reported intermittent palpitations with dizziness over several years, sweating for 3 months and 5 kg weight loss over 3 months. Past medical history included neurofibromatosis type 1 (NF1

Open access

Vasileios Chortis, Christine J H May, Kassiani Skordilis, John Ayuk, Wiebke Arlt and Rachel K Crowley

). Case 2 A 63-year-old woman presented with unprovoked deep vein thrombosis. CT imaging, arranged to exclude underlying malignancy, revealed a left adrenal tumour (6 cm). Her past medical history included type I neurofibromatosis, adrenalectomy for a

Open access

Aisha A Tepede, James Welch, Maya Lee, Adel Mandl, Sunita K Agarwal, Naris Nilubol, Dhaval Patel, Craig Cochran, William F Simonds, Lee S Weinstein, Abhishek Jha, Corina Millo, Karel Pacak and Jenny E Blau

Hippel-Lindau (VHL), multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1) and myc-associated factor X (MAX) gene mutations, the utility of 18 F-FDOPA PET/CT for identifying PHEOs has been previously demonstrated ( 4 , 5 , 6 , 7

Open access

N Atapattu, K A C P Imalke, M Madarasinghe, A Lamahewage and K S H de Silva

coarctation, neurofibromatosis (NF), organomegaly or renal bruit. Blood pressure on several occasions was above the 95th percentile for her age and height (95th percentile – 112/95 mmHg). When her oral intake was restricted to the maintenance requirement, the

Open access

Avital Nahmias, Simona Grozinsky-Glasberg, Asher Salmon and David J Gross

associated with pNETs, such as tuberous sclerosis, MEN1, and neurofibromatosis. Furthermore, mTOR abnormalities have been correlated with more aggressive tumors. Everolimus inhibits mTOR and was found to be effective in patients with low to intermediate grade

Open access

Tanja Miličević, Ivan Žaja, Deša Tešanović and Maja Radman

hyperpigmentation of the nails. Other differential diagnoses include acute cutaneous lupus erythematosus, McCune–Albright syndrome, cutaneous melanoma, dermatologic aspects of various diseases (Addison’s disease, hemochromatosis, neurofibromatosis type 1), lentigo

Open access

Run Yu, Danielle Sharaga, Christopher Donner, M Fernando Palma Diaz, Masha J Livhits and Michael W Yeh

in a background of a familial syndrome, such as multiple endocrine neoplasia type 2 (MEN2) or neurofibromatosis type 1 (NF1) ( 4 , 5 ). We here report a case of pheochromocytomatosis in a patient with a novel germline pathogenic mutation of TMEM127