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Von Recklinghausen

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
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
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...
2016: Dermatology Online Journal
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
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
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
Huan-Ling Guo, Li-da Chen, Zhu Wang, Yang Huang, Jin-Ya Liu, Quan-Yuan Shan, Xiao-Yan Xie, Ming-de Lu, Wei Wang
Solitary neurofibroma located in the hilum of the liver is extremely rare, particularly without neurofibromatosis. We herein report a case of hilar biliary neurofibroma without signs of von Recklinghausen's disease. A 36-year-old man was admitted to our department with progressive jaundice. The case was diagnosed as hilar cholangiocarcinoma based on preoperative imaging. The patient consequently received a Roux-en-Y hepaticojejunostomy and was confirmed with neurofibroma pathologically. This is the first reported imaging finding of hilar biliary neurofibroma using contrast-enhanced ultrasound, emphasizing the differential diagnosis of biliary tumors...
October 2016: Journal of Medical Ultrasonics
Won Jik Lee, Sung Min Park, Byung Wook Kim, Joon Sung Kim, Jeong Seon Ji, Hwang Choi
Neurofibromas are benign, slow-growing nerve sheath tumors of the peripheral nervous system, arising from Schwann cells, and classically associated with neurofibromatosis type 1 (Nf1, von Recklinghausen's disease). They occur rarely in the gastro-intestinal tract as isolated neoplasms, outside the classical clinical feature of neurofibromatosis. We herein present an isolated colonic neurofibroma without any systemic signs of neurofibromatosis. A 59-year-old female came to our hospital for constipation. On physical examination, general appearance showed no definite skin lesions...
July 25, 2016: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
Yateesh Srinivasa, Suresh Bhat, Fredrick Paul
Primary schwannoma of urinary bladder is a very rare tumour. It usually occurs in association with Von Recklinghausen's disease. It arises from Schwann's cells in the nerve sheath. We report here a very rare case of primary schwannoma of urinary bladder managed by complete transurethral resection.
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Sarita Nibhoria, Kanwardeep Kaur Tiwana, Manmeet Kaur, Richa Phutela
Neurofibromas commonly involve peripheral nervous system. Isolated neurofibroma of vagina is very rare tumor and usually associated with Von Recklinghausen's disease. Vulva is the most frequent location of neurofibroma of genital tract followed by clitoris and labia. We present a rare case of neurofibroma of vaginal wall presented as vaginal cyst in a 52 year old female with no history of any other symptoms related to Recklinghausen's disease. Excision biopsy was done and on the histopathological examination non-encapsulated, well circumscribed mass composed of spindle shaped cells with wavy nuclei and bland nuclear chromatin was noted...
March 2016: Journal of Family & Reproductive Health
Joseph Yorke, Babatunde M Duduyemi, Abiboye C Yifieyeh, P K S Fiifi-Yankson, Collins Appiah, Dorcas Afful-Yorke, Michael O Adinku, D Ahulu
Schwannomas are benign, usually encapsulated, nerve sheath tumours derived from Schwann cells. They commonly arise from the cranial nerves as acoustic schwannomas and are extremely rare in the pelvis and retroperitoneal area (<0.5% of reported cases) unless they are combined with Von Recklinghausen disease (type 1 neurofibromatosis). We report the case of a 23-year-old woman with a mass extending from the umbilical region in the abdomen to the upper two-thirds of the thigh. As this tumour is so rare, and in order to ensure optimal treatment and survival for our patient, a computed tomography-guided biopsy was performed before en bloc tumour excision...
July 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Mehmet Deniz Bulut, Alpaslan Yavuz, Aydın Bora, İsmail Gülşen, Abdussamet Batur
Neurofibromatosis type 2 mostly develops with multiple neoplasms of the central and peripheral nervous system and is associated with ocular abnormalities. The presented case is a 19-year-old female patient with bilateral vestibulocochlear schwannomas in both pontocerebellar corners, intradural intra-extramedullary masses, and multiple neurofibromas in the spinal canal. The clinical picture for NF-2, also called central neurofibromatosis, is completely different from von Recklinghausen disease. Untreated bilateral vestibulocochlear schwannoma may cause hydrocephalus in NF-2, and lead to death...
July 2016: Archives of Iranian Medicine
C Cadenas, R Marchan, P Godoy, R Reif, I von Recklinghausen, N Schöbel
No abstract text is available yet for this article.
2012: EXCLI journal
B H Shrikrishna, A C Jyothi, N H Kulkarni, Md Shafiuddin Mazhar
Schwannomas are benign neoplasms of the peripheral nerves originating in the Schwann cells. They are rare and usually solitary, with clearly delimited capsules. They occur in the head and neck region in only 25 % of the cases, and may be associated with Von Recklinghausen's disease. Schwannomas are always a diagnostic dilemma as they are asymptomatic for long time and histopathology is the gold standard for diagnosis. The present study retrospectively analysed data of 4 patients with schwannomas and reviewed the literature on the subject...
June 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
Mohamad J Alshikho, Salem I Noureldine, Joud M Talas, Antoine Nasimian, Safi Zazou, Bashir Mobaed, Mahmoud Nasser
BACKGROUND: Pancreatic endocrine tumors (PETs) are rare and can occur as part of neurofibromatosis type 1 (NF1). Gastrinomas are functional PETs that are rarely associated with NF1. Only two cases of their occurrence have been reported in the literature. CASE REPORT: A 28-year-old woman was admitted for further evaluation of epigastric soreness, heartburn, nausea, vomiting, diarrhea, and a significant weight loss. Physical examination was remarkable for cutaneous findings (axillary freckling and multiple café-au-lait spots) as well as neurofibromas (dermal, plexiform)...
2016: American Journal of Case Reports
Pépin-Williams Atipo-Tsiba
Usher syndrome is defined by the association of a progressive or non-progressive congenital sensorineural hearing loss with variable severity and a gradually blinding pigmentary retinopathy. Von Recklinghausen neurofibromatosis or Neurofibromatosis type 1 is the major clinically form of neurofibromatosis which occurs in approximately 90% of cases. Both types of disease are genetic in origin with very low prevalence. The probability of co-occurrence of these diseases in a single individual is exceptional. Inbreeding, as well as all genetic diseases, increases quite significantly the probability of their occurrence...
2016: Pan African Medical Journal
S Y Su, X Zhou, X M Pang, C Y Chen, S H Li, J L Liu
Neurofibromatosis type 1, also known as NF1 or von Recklinghausen's disease, is a common neurocutaneous syndrome that presents with multiple café-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. The mutations of the gene NF1, encoding the protein neurofibromin, have been identified as the cause of this disease. Here, we report a clinical and molecular study of a Chinese patient with multiple café-au-lait skin freckles, dermatofibroma, central and peripheral nervous system tumors, and bone abnormalities attributed to NF1...
2016: Genetics and Molecular Research: GMR
Epameinondas Angelopoulos, Konstantinos Eleftheriou, Georgios Kyriakopoulos, Kalliopi Athanassiadi, Dimitra Rontogianni, Christina Routsi
We report an unusual case of a thoracic opacity due to a huge mediastinal malignant schwannoma which compressed the whole left lung and the mediastinum causing respiratory failure in a 73-year-old woman without von Recklinghausen's disease. Although the tumor was resected, the patient failed to wean from mechanical ventilation and died one month later because of multiple organ dysfunction syndrome.
2016: Case Reports in Medicine
Aleksandra Ilić, Snezana Raljević, Tatjana Adzić, Vesna Skodrić-Trifunović, Jelena Stanimirović
INTRODUCTION: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is one of the most common single-gene disorders (mutation on chromosome 17q) and usually associated with cutaneous, musculoskeletal and neurological disorders in humans. NF1 is generally complicated with one or more neurobehavioral disorders or tumors located in the peripheral nervous system such as neurofibromas, peripheral nerve sheath tumor, pheochromocytoma, etc. In the available medical literature, the thoracic manifestations of NF1 have been rarely described in these patients...
February 2016: Vojnosanitetski Pregled. Military-medical and Pharmaceutical Review
Ryuichi Yamamoto, Shingo Kato, Toshinori Maru, Riki Ninomiya, Fumiaki Ozawa, Yoshifumi Beck, Keiko Abe, Jun-Ichi Tamaru, Sumiko Nagoshi, Koji Yakabi
We herein describe a case of somatostatinoma coexisting with a gastrointestinal stromal tumor (GIST) in the duodenum of an 81-year-old woman with Von Recklinghausen's disease (VRD) and common bile duct stone who presented with diarrhea of three months in duration. Gastroduodenoscopy revealed an ulcer on the second part of the duodenum. A 2.1-cm enhancing tumor was observed to extend from the ulcer on an abdominal computed tomography scan. Subtotal stomach-preserving pancreaticoduodenectomy revealed a somatostatinoma on the papilla of the vater and duodenal GIST...
2016: Internal Medicine
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