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Von Recklinghausen

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https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#1
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29580726/-white-hemithorax-in-a-young-women-carrying-coffee-and-milk-spots
#2
S Ben Saad, M Abdenadher, M Attia, H Daghfous, F Tritar
INTRODUCTION: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology. CASE REPORT: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. The physical examination revealed a right pleuritic syndrome, coffee and milk spots and neurofibromas of the trunk. Biological assessment showed anemia at 6...
March 23, 2018: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29541566/surgical-interventions-for-advanced-parameningeal-rhabdomyosarcoma-of-children-and-adolescents
#3
REVIEW
Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz
Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma...
January 9, 2018: Curēus
https://www.readbyqxmd.com/read/29496081/the-endovascular-management-of-neurofibromatosis-associated-aneurysms-a-systematic-review
#4
David Bargiela, Misha M Verkerk, Ian Wee, Kiera Welman, Eugene Ng, Andrew M T L Choong
BACKGROUND: Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture. METHOD: A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases...
March 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#5
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century "Buffon's Histoire Naturelle" and "Cruveilhier's Anatomie Pathologique du Corps Human"...
February 1, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29298970/-ocular-symptoms-in-von-recklinghausen-disease
#6
REVIEW
Mateusz Nowak, Lidia Nowak, Jacek Nowak, Piotr Chaniecki
Von Recklinghausen disease is a genetic disease with autosomal dominant, belonging to the group phakomatoses. In the clinical picture of the disease are skin lesions, eye, bone, intracranial tumors and other cancers of the extracranial location. Due to the high variability of clinical symptoms often diagnosis is delayed in cases of mild expression. The prognosis depends on the location and extent of the change and only symptomatic treatment have a tendency to change regrowth.
December 22, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29276786/endovascular-treatment-for-a-ruptured-lumbar-artery-aneurysm-in-a-patient-with-von-recklinghausen-disease
#7
T Ishigaki, R Kawasaki, H Matsuda, N Mukohara
Introduction: Vasculopathy, such as an aneurysm, stenosis, rupture, or arteriovenous fistula, in patients with neurofibromatosis type I (NF-1; von Recklinghausen disease) is well recognised. However, there has been no report regarding treatment for a ruptured lumbar artery aneurysm associated with NF-1. We present the first report of successful endovascular treatment by coil embolisation for a ruptured lumbar artery aneurysm in a patient with NF-I. Report: A 52 year old man with a history of NF-1 was referred with back pain and anaemia...
2018: EJVES Short Reports
https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#8
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
March 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29041014/colon-inflammatory-fibroid-polyp-in-a-patient-with-von-recklinghausen-s-disease-endoscopic-aspect-with-narrow-band-imaging-and-magnification
#9
Julie Benard, Jérôme Rivory, Florian Rostain, Céline Montuclard, Valérie Hervieu, Thierry Ponchon, Mathieu Pioche
No abstract text is available yet for this article.
January 2018: Endoscopy
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#10
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28858188/spinal-deformities-in-romantic-operas
#11
Mattia Andreotti, Gaetano Caruso, Leo Massari, Michele Augusto Riva
: The librettos of several of the most famous Romantic operas contain references to disease. These operas can serve as valuable sources of information regarding how spinal deformities were understood during the nineteenth century by physicians and lay persons alike. Original librettos of the operas "Rigoletto" (1851) by Giuseppe Verdi (1813-1901) and "La Esmeralda" (1836) by Louise Bertin (1805-1877) were analyzed. In both operas, spinal deformities of Rigoletto and Quasimodo are a central issue. In detail, Quasimodo could suffer from von Recklinghausen's neurofibromatosis, while Rigoletto could be affected by sever adolescent idiopathic scoliosis...
August 29, 2017: Spine
https://www.readbyqxmd.com/read/28759521/68ga-psma-uptake-in-neurofibromas-demonstrated-on-pet-ct-in-a-patient-with-neurofibromatosis-type-1
#12
Brook Gulhane, Stuart Ramsay, William Fong
We present a case of Ga-PSMA PET/CT imaging of PSMA expression in neurofibromas in a patient with neurofibromatosis type 1 (or von Recklinghausen disease). PSMA uptake has previously been demonstrated in schwannomas both with PET and histological staining. The presented images confirm that PSMA expression in cutaneous neurofibromas can be well imaged with PET, with uptake mostly at relatively low levels. Interestingly, some lesions demonstrated significantly higher PSMA expression, although the clinical significance of these differences remains to be determined...
October 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28579839/solitary-neurofibroma-of-eyelid-masquerading-as-chalazion
#13
Nancy Chen, Yung-Hsiang Hsu, Yuan-Chieh Lee
Neurofibroma, a benign peripheral nerve sheath tumor, usually appears together with café-au-lait spots, iris nodules, and other tumors within the scope of neurofibromatosis von Recklinghausen type 1 tumors. A solitary neurofibroma of the eyelid is relatively rare. In this case report, we present a 39-year-old woman who had a lesion on the eyelid crease, previously treated as a chalazion. Due to persistent wound crusting, the lesion was excised above the tarsus. Pathological examination revealed a solitary neurofibroma...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28319630/phacomatosis-cesioflammea-in-association-with-von-recklinghausen-disease-neurofibromatosis-type-i
#14
Bhushan Madke, Sumit Kar, Nitin Gangane, Neha Singh
No abstract text is available yet for this article.
February 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28256407/schwannoma-of-the-psoas-an-unusual-cause-of-abdominal-pain
#15
Elias Makhoul, Ralph Kamel, Naim Hanna
Schwannomas are usually benign tumours arising from Schwann cells of peripheral nerve sheath. Retroperitoneal location is extremely rare compromising 0.5-5% of all schwannomas, except in patients having von Recklinghausen's disease, in whom retroperitoneal location is more frequent and malignant cases are known to occur. Complete surgical excision with negative margins is the definitive treatment on which the diagnosis is usually made due to nonspecific radiologic appearance. In this article we would like to present an unusual cause of recurrent, abdominal pain in an eighty-six-year-old male...
March 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28163183/a-femoral-common-vein-aneurysm-in-a-patient-with-neurofibromatosis-syndrome-type-1
#16
Christophe Seinturier, Sophie Blaise, Frédéric Thony, Jean Luc Magne, Gilles Pernod
Neurofibromatosis type I (NFI), also called Von Recklinghausen disease, is an autosomal dominant disease secondary to a genetic mutation on the long arm of chromosome 17. This disorder affects neural crest cells. Cutaneous clinical forms are the most frequent with multiple benign skin neurofibromas, associated with café au lait skin spots and iris hamartomas. Vascular abnormalities in NF1 are rare but have also been well described. The most frequent abnormalities are characterized by arterial aneurysm degeneration, stenosis, and malformations...
April 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28133323/-neuroendocrine-tumor-of-the-ampulla-of-vater-and-gastrointestinal-stromal-tumor-of-the-duodenum-in-a-patient-with-von-recklinghausen-s-disease
#17
REVIEW
Yasufumi Yamada, Shunichi Shiozawa, Takebumi Usui, Kotaro Kuhara, Teppei Kouno, Shinichi Asaka, Kentaro Yamaguchi, Hazime Yokomizo, Takeshi Shimakawa, Kazuhiko Yoshimatsu, Takao Katsube, Yoshihiko Naritaka
A 57-year-old woman with von Recklinghausen's disease presented with epigastralgia. Gastroduodenoscopy revealed swelling of the ampulla of Vater in the ventral and caudal direction, forming a hard, elastic mass. She was diagnosed with a tumor of the ampulla of Vater, and a subtotal stomach-preserving pancreaticoduodenectomy and D2 lymph node dissection were performed. The isolated specimen showed an intra-ampullary tumor of the ampulla of Vater and a submucosal tumor in the descending duodenum, which were diagnosed as a somatostatin-producing neuroendocrine tumor and gastrointestinal stromal tumor, respectively, on pathological examination...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28133209/-a-case-of-primary-poorly-differentiated-small-cell-carcinoma-of-the-breast-in-a-patient-with-von-recklinghausen-s-disease
#18
REVIEW
Kazunoshin Tachibana, Noriko Abe, Sadahiko Abe, Keita Aoto, Maiko Okano, Fumi Murakami, Satoshi Kawana, Osamu Suzuki, Kazuhiro Tasaki, Tohru Ohtake, Seiichi Takenoshita
We report a case of neuroendocrine carcinoma and poorly differentiated/small cell carcinoma ofthe breast in a patient with von Recklinghausen's disease. The patient was a 46-year-old woman who was diagnosed with von Recklinghausen's disease when she was 22 years old. She presented with left breast pain, and physical examination revealed a firm mass in the left breast. A core needle biopsy of the tumor revealed triple negative breast cancer with neuroendocrine features. We performed a simple mastectomy with lymph node dissection...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27806370/historical-perspective-of-split-cord-malformations-a-tale-of-two-cords
#19
Erfanul Saker, Marios Loukas, Christian Fisahn, Rod J Oskouian, R Shane Tubbs
INTRODUCTION: Our appreciation and understanding of what is now known as the split cord malformation (SCM) have a long history. The oldest known example of SCM is from roughly AD 100. Other isolated examples can be found in the large body of work of the pathologists of the 1800s, where the SCMs were found incidentally during autopsies. CONCLUSIONS: SCM has a rich history and has intrigued physicians for over 200 years. Many well-known figures from the past such as Chiari and von Recklinghausen, both pathologists, made early postmortem descriptions of SCM...
2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27805557/-retroperitoneal-tumor-neurofibroma
#20
REVIEW
Paul Eduardo Lada, Daniela Marriot, Carlos Sanchez Tasonne, Martin Sanchez, Fabian Caballero, Martin Massa
The neurofibroma is a benign tumor that grows from the sheath of the peripheral nerves, which is often localized on superficial tissues, especially in isolated forms. The neurofibromas can be of two types, localized or diffuse, the last one closely related to Von Recklinghausen disease or NF-1. We described a 37 years old male e patient, 37 years without symptoms, and the computed tomography scan (CT), and magnetic resonance imaging showed a tumor in proximity to the right kidney, the psoas muscle, the spine and compressing the cava vein, but cannot be accurately determinate the invasion of these structures...
2016: Revista de la Facultad de Ciencias Médicas
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