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Von Recklinghausen

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https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#1
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...
November 28, 2017: 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
#2
Julie Benard, Jérôme Rivory, Florian Rostain, Céline Montuclard, Valérie Hervieu, Thierry Ponchon, Mathieu Pioche
No abstract text is available yet for this article.
October 17, 2017: Endoscopy
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27785414/von-recklinghausen-disease-one-patient-various-problems
#14
B Bergler-Czop, B Miziołek, L Brzezińska-Wcisło
von 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...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27730789/neurofibromatosis-i-presentating-with-multiple-spinal-and-intracranial-neurofibromas
#15
Sunil Tripathi, C B Pandey, T N Dubey, Priyanka Singh
Von Recklinghausen's neurofibromatosis (NF-1) is a phacomatosis characterised by widespread nervous system tumours with cutaneous manifestations and variably associated anomalies. We report here a case, who, in addition to classical features of NF-1 (café-au-lait spots, cutaneous and subcutaneous neurofibromas) demonstrated radiological evidence of both spinal and intracranial neurofibromas and an incidentally discovered horse-shoe kidney. The unique constellation of spinal and intracranial neurofibromas, with associated horse-shoe kidney...
February 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27726791/paul-ehrlich-and-the-early-history-of-granulocytes
#16
REVIEW
A Barry Kay
Paul Ehrlich's techniques, published between 1879 and 1880, for staining blood films using coal tar dyes, and his method of differential blood cell counting, ended years of speculation regarding the classification of white cells. Acidic and basic dyes had allowed him to recognize eosinophil and basophil granules, respectively, work that was a direct continuation of his discovery of the tissue mast cell described in his doctoral thesis. Ehrlich went on to develop neutral dyes that identified epsilon granules in neutrophils ("cells with polymorphous nuclei")...
August 2016: Microbiology Spectrum
https://www.readbyqxmd.com/read/27617721/segmental-neurofibromatosis-and-cancer-report-of-triple-malignancy-in-a-woman-with-mosaic-neurofibromatosis-1-and-review-of-neoplasms-in-segmental-neurofibromatosis
#17
REVIEW
Philip R Cohen
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer (renal cell carcinoma, mixed thyroid carcinoma, and lentigo maligna) is described and cancers observed in patients with segmental neurofibromatosis are reviewed.MethodsPubMed was used to search the following terms, separately and in combination: cancer, malignancy, mosaic, neoplasm, neurofibroma, neurofibromatosis, segment, segmental, tumor...
July 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27603687/management-of-giant-facial-neurofibroma-with-intratumoral-hematoma-in-neurofibromatosis-type-1-patient
#18
Min Sung Tak, Seong Eun Cho, Sang Gue Kang, Chul Han Kim, Yong Seok Lee
Type-1 neurofibromatosis, a common autosomal dominant disease, is also known as von Recklinghausen disease. Surgical procedures to treat this condition are challenging because of the brittleness of the surrounding blood vessels and soft tissues that bring the risk of causing fatal bleeding. With improvements in neurovascular embolization procedures, some literatures have been published about the application of preoperative embolization for neurofibromatosis. This case report describes a 60-year-old female with Type-1 neurofibromatosis, who presented giant facial neurofibromas with intratumoral hemorrhage on both cheeks...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27518244/ruptured-left-external-carotid-artery-aneurysm-presenting-as-upper-airway-obstruction-in-von-recklinghausen-s-disease
#19
Hajar Souldi, Mohammed Yahya Bajja, Meriem Chenguir, RedaLah Abada, Samy Rouadi, Mohammed Roubal, Mohammed Mahtar
INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café-au-lait macules, neurofibromas, and iris hamartomas. Carotid artery aneurysms rarely affect patients with NF-1 but may be associated with rupture. We report the first episode of a ruptured external carotid aneurysm with severe life-threatening airway obstruction in a NF-1 patient. PRESENTATION OF CASE: We report a case of NF-1 32-year-old woman admitted to our department for life-threatening upper airway obstruction caused by spontaneous expanding swelling in the left sided neck...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27510679/isolated-ileal-ganglioneuromatosis-in-an-11-year-old-boy-case-report-and-review-of-literature
#20
REVIEW
Subhashis Mitra, Sanghamitra Mukherjee, Hema Chakraborty
Ganglioneuromatous proliferation in the gastrointestinal tract is a rare occurrence and is usually associated with specific syndrome complexes such as multiple endocrine neoplasia Type 2B or von Recklinghausen's disease. We report here a case of diffuse intestinal ganglioneuromatosis, presenting as intestinal obstruction and chronic constipation in an 11-year-old boy. Sporadic cases of intestinal ganglioneuromatosis in the absence of any systemic manifestations are a very rare cause of enteric motility disorders in childhood, and we discuss the pathological and clinical significance of this finding...
July 2016: Indian Journal of Pathology & Microbiology
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