Neurofibromatosis type 1 (Von Recklinghausen´s disease) in Emergency Department

2016 ◽  
Vol 1 (05) ◽  
Author(s):  
Domingo Ly-Pen ◽  
Diana Ly Liu
Keyword(s):  
Emergency Department ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Von Recklinghausen ◽  
Typical Picture

Neurofibromatosis is one of the most common genetic disorders. A typical picture is presented, with a brief compilation of the most common presentations of these patients in the Emergency Department.

scholarly journals Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)

2020 ◽  
Vol 13 (1) ◽  
pp. e227379
Author(s):  
Gustavo Ferrer ◽  
Alwiya Omar Saleh ◽  
Henry D Tazelaar ◽  
Andrea V Arrossi
Keyword(s):  
Interstitial Pneumonia ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Interstitial Fibrosis ◽  
Neurofibromatosis Type ◽  
Pulmonary Involvement ◽  
Autosomal Dominant Disorder ◽  
Systemic Manifestations ◽  
Von Recklinghausen

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with multiple systemic manifestations. Pulmonary involvement has been reported in the form of interstitial fibrosis, emphysema, pulmonary hypertension and thoracic neoplasm. We report a case of desquamative interstitial pneumonia in a non-smoker with NF1.

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 A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis

2021 ◽  
Author(s):  
Yasmine Makhlouf ◽  
Soumaya Boussaid ◽  
Houda Ajlani ◽  
Samia Jemmali ◽  
Sonia Rekik ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Fibroblast Growth Factor 23 ◽  
Neurofibromatosis Type ◽  
High Dose ◽  
Rare Tumour ◽  
Appropriate Treatment ◽  
History Of ◽  
Von Recklinghausen ◽  
Hypophosphataemic Osteomalacia

Background: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated. Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia. Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment.

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 Small, low-grade ampullary neuroendocrine tumor presenting with metastasis and multiple synchronous tumors in a patient with neurofibromatosis type 1: a case report with literature review

2021 ◽  
Vol 2021 (3) ◽  
Author(s):  
Kevin Xiao ◽  
Sharon Swierczynski ◽  
Gary Xiao
Keyword(s):  
Neuroendocrine Tumor ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorders ◽  
Intraepithelial Neoplasia ◽  
Neurofibromatosis Type ◽  
Whipple Procedure ◽  
Side Branch ◽  
Low Grade ◽  
Increased Risk

ABSTRACT Neurofibromatosis type 1 (NF1) is a tumor syndrome and one of the most common genetic disorders. Patients have an increased risk of developing neurologic and gastrointestinal (GI) neoplasms, but GI lesions are often underrecognized since most cases are asymptomatic. It is extremely rare to see multiple types of abdominal tumors synchronously in NF1. In this case, we describe a patient presenting with a small, low-grade periampullary neuroendocrine tumor (NET) that underwent endoscopic submucosal dissection and later pancreaticoduodenectomy (Whipple procedure). This led to findings of lymph node and distant metastasis of her NET, and the incidental discovery of gastrointestinal stromal tumors, extensive pancreatic intraepithelial neoplasia, and main duct and side branch intraductal pancreatic mucinous neoplasm. The synchronous presence of these lesions has not been reported in the literature.

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

scholarly journals Neurofibromatosis type 1 associated with coarctation of the abdominal aorta

2021 ◽  
Author(s):  
Reema Al Essa ◽  
Mohammed Al Jasser
Keyword(s):  
Abdominal Aorta ◽  
Neurofibromatosis Type 1 ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Rare Complication ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Arterial Stenosis

Neurofibromatosis type 1 (NF1) is one of the most autosomal dominant genetic disorders. NF1 vasculopathy is a rare complication of NF1 with prevalence up to 6% including aneurysms, arterial stenosis, aorta coarctation and arteriovenous malformations [...]

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