scholarly journals Duodenal neuroendocrine tumour in a young patient with von Recklinghausen disease

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Cláudia Leite ◽  
Júlio Constantino ◽  
Daniela Melo Pinto ◽  
José Carlos Pinto ◽  
Milene Sá ◽  
...  
Keyword(s):  
Neuroendocrine Tumour ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Von Recklinghausen Disease ◽  
Café Au Lait Spots ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

Abstract Von Recklinghausen disease (neurofibromatosis type 1—NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy.

NEUROFIBROMATOSIS TYPE I (VON RECKLINGHAUSEN DISEASE OF THE SKIN): CASE REPORT

2020 ◽  
Vol 129 (1) ◽  
pp. e85
Author(s):  
PRISCILA THAÍS RODRIGUES DE ABREU ◽  
SICÍLIA REZENDE OLIVEIRA ◽  
LENI VERÔNICA DE OLIVEIRA SILVA ◽  
ALINE FERNANDA CRUZ ◽  
RICARDO ALVES DE MESQUITA ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

scholarly journals Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Ali Al Kaissi ◽  
Klaus Klaushofer ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Early Life ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Wedge Osteotomy ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Café Au Lait Spots ◽  
Nf1 Gene ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectively causing the development of bilateral congenital anterolateral bowing of the tibiae and fibulae. We referred to closing-wedge osteotomy of the left tibia along with fibular osteotomy in order to realign the deformity. Due to the delayed appearance of skin stigmata in her early life, the diagnosis of neurofibromatosis was ruled out. At the age of 9 years, café-au-lait spots and axillary freckling were apparent. Genetic tests confirmed von Recklinghausen disease (neurofibromatosis type-I (NF1)) (gene has been localised to 17q22). Interestingly, bilateral and symmetrical anteromedial bowing of the tibiae and fibulae has not been described in patients with NF-I.

scholarly journals Von recklinghausen disease: one patient – various problems

2016 ◽  
Vol 19 (1) ◽  
pp. 95-102
Author(s):  
B Bergler-Czop ◽  
B Miziołek ◽  
L Brzezińska-Wcisło
Keyword(s):  
Neurofibromatosis Type ◽  
Tumor Formation ◽  
Mitogen Activated Protein Kinase ◽  
Chromosome 17 ◽  
Whole Body ◽  
Suppressor Factor ◽  
Large Variability ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

Abstractvon Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation. A loss of proper functioning of this protein leads to a development of vRD; however, a large variability in a phenotype of the disease and the onset of cutaneous findings, not necessarily in childhood, may provide a clinical diagnosis of the disease late in adulthood. We present a 52-year-old male in whom the diagnosis of vRD was proposed in the sixth decade of life, despite of multiple nodular lesions disseminated over the skin of the whole body and different neurological disturbances, not considered for a long time as manifestations of genodermatosis.

scholarly journals Neurofibromatosis Type 1 With a Pheochromocytoma: A Rare Presentation of Von Recklinghausen Disease

2015 ◽  
Vol 5 (5) ◽  
pp. 309-311 ◽  
Author(s):  
Wahib Zafar ◽  
Benjamin Chaucer ◽  
Fidencio Davalos ◽  
Siddiqui Beenish ◽  
Marie Chevenon ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Rare Presentation ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

scholarly journals The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Cem Yucel ◽  
Salih Budak ◽  
Erdem Kisa ◽  
Orcun Celik ◽  
Zafer Kozacioglu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Neurofibromatosis Type ◽  
Urinary System ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Bladder Leiomyoma ◽  
Von Recklinghausen

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.

scholarly journals Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Amina Chaka ◽  
Farouk Ennaceur ◽  
Mohamed Amine Tormen ◽  
Ibtissem Korbi ◽  
Faouzi Noomen ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Stromal Tumor ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Multisystem Disorder ◽  
Cell Tissue ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Made In

Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. The incidence of gastroduodenal stromal tumor during Recklinghausen disease can reach 35% in autopsies and 5% in clinical cases. In our case, the diagnosis of neurofibromatosis type I was made in a middle-aged women initially diagnosed with a pancreaticoduodenal tumor.

scholarly journals Thyroid cancer in a patient with neurofibromatosis type 1: von recklinghausen disease

2016 ◽  
Author(s):  
Ioannis Karaitianos ◽  
Panagiotis Athanassiou ◽  
Christiana Tsomidou ◽  
Ifigenia Kostoglou-Athanassiou
Keyword(s):  
Thyroid Cancer ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen
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