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Natalie Wolkow, Frederick A Jakobiec, Michael K Yoon
A 56-year-old woman presented with periocular nodules that were clinically suspected to be neurofibromas. Histopathologic examination of excised nodules revealed a pronounced granulomatous reaction to a foreign material that was composed of glossy polygonal palely eosinophilic fragments. These fragments were outlined in red with Masson trichrome, stained gray with the elastic stain, and were uniformly red with Gomori methenamine silver staining. The histopathologic appearance was consistent with a granulomatous reaction to Dermalive facial filler...
March 14, 2018: Ophthalmic Plastic and Reconstructive Surgery
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Leitao Huang, Xia Wu, Yi Ding, Lai Qi, Wei Li, Gendong Huang, Min Dai, Bin Zhang
Neurofibromatosis type 1 is an autosomal dominant inherited disease, which is characterized by the presence of multiple neurofibromas. We encountered a case in which a sporadic dispersed neurofibroma recurred locally on numerous occasions extending over 16 years. The patient developed multiple masses with a focus of neurofibroma on the right lower limb, which were excised. The patient was initially diagnosed with inflammatory changes via computed tomography and magnetic resonance imaging; however, subsequently, pathological and immunohistochemical examinations revealed an intraneural neurofibroma...
March 8, 2018: Der Orthopäde
Aurore Bouty, Eric Dobremez, Luke Harper, Jérôme Harambat, Cécile Bouteiller, Brigitte Zaghet, Pierre Wolkenstein, Stéphane Ducassou, Yan Lefevre
AIM: Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder. Malignant transformation into malignant peripheral nerve sheath tumors (MPNST) can occur. However, urinary tract involvement is rare. We report 4 cases of NF1 with bladder dysfunction. METHODS: A retrospective single center analysis of 4 patients was conducted over a 17-year period, focusing on urinary tract involvement. RESULTS: NF1 was diagnosed at a median of 16...
March 7, 2018: Urologia Internationalis
Fan Yang, Song Xu, Renwang Liu, Tao Shi, Xiongfei Li, Xuebing Li, Gang Chen, Hongyu Liu, Qinghua Zhou, Jun Chen
Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively...
2018: OncoTargets and Therapy
Yuichi Yoshida, Yuko Ehara, Kenjiro Kosaki, Osamu Yamamoto
No abstract text is available yet for this article.
March 2018: Journal of Dermatology
Sang Hyun Nam, Jung Yeon Kim, Jaeki Ahn, Yongbum Park
Plexiform neurofibromas of the foot are rare, benign tumors of the peripheral nerves. Diagnosis can be challenging if they present with symptoms mimicking other peripheral nerve pathologies. Tarsal tunnel syndrome is an entrapment syndrome of the entire tibial nerve behind the medial malleolus and under the flexor retinaculum. The clinical presentation typically includes posteromedial pain, positive Tinel's sign, and neurogenic signs, including both the sensation of numbness and the actual hypoesthesia and clawing of the toes...
January 2018: The surgery journal
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
Gulec Mert Dogan, Ahmet Siğirci, Leyla Karaca
No abstract text is available yet for this article.
March 1, 2018: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Lei Yan, Shenon Sethi, Pincas Bitterman, Vijaya Reddy, Paolo Gattuso
BACKGROUND: Umbilical lesions are rare, and can be benign or malignant. This retrospective study was conducted to assess the epidemiological, clinical, and histologic characteristics of umbilical masses. METHODS: Cases of umbilical masses from January 1994 to August 2016 were retrieved from our institution's pathology databases, and their clinicopathological features were reviewed. RESULTS: There were a total of 99 cases of umbilical masses, 78 women (78...
February 1, 2018: International Journal of Surgical Pathology
Georgi Tchernev, Anastasiya Atanasova Chokoeva, Uwe Wollina, Torello Lotti, Georgi Konstantinov Maximov, Ilia Lozev
BACKGROUND: Neurofibromatosis type 1 ( NF1 ) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
Sonia Nath, Jayant Prakash, Narendra Nath Singh, Virendra Kumar Prajapati
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem genetic disorder. It is characterised by formation of benign hamartomas, neurofibromas, and angiofibromas located in different organs. We describe a case of a 13-year boy who complained of gingival enlargement. Clinical examination showed distinctive dermatological signs like hypopigmented macules, shagreen plaques, miliary fibromas, fibrous plaques and multiple angiofibromas. Oral manifestation included localised gingival enlargement. Gingivectomy was performed and the excised tissue was submitted for histopathological examination...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
H Vijaya Pai, Surabhi Abbagani, Padma Priya Jaishankar
Neurofibroma is a peripheral nerve sheath tumor which is seen in neurofibromatosis type 1 and is characterized by various ophthalmic manifestations. Solitary neurofibroma of the eyelid is rare. We report a case of a 53-year-old female patient who presented with a painless swelling in the left upper lid of 4 years' duration. She had undergone surgery for the same lesion twice. The lesion was excised and histopathological examination revealed a solitary neurofibroma. She did not have any other features of generalized neurofibromatosis...
March 2018: Indian Journal of Ophthalmology
Karen M Van de Velde-Kossmann
Renal failure is common in the United States with an estimated prevalence of 660,000 treated end-stage renal disease patients in 2015 [<xref ref-type="bibr" rid="ref1">1</xref>]. Causes of renal failure are many, and complications from renal failure, underlying disease, and treatment are not infrequent. Examples of common skin manifestations include xerosis, pigmentary change, and nail dystrophies. Frequent disease-specific skin changes may be helpful in the diagnosis of primary disorders leading to renal disease or severity of disease including bullosis diabeticorum, sclerodactyly, or leukoctoclastic vasculitis...
January 26, 2018: Blood Purification
Anna Rotili, Federica De Maria, Benedetta Di Venosa, Mariacristina Ghioni, Maria Pizzamiglio, Enrico Cassano, Michela Moratti
Neurofibromas are benign peripheral nerve sheath tumours, which are usually solitary and sporadic. Solitary neurofibromas of the breast are rare. The most common location of a breast neurofibroma is the nipple-areola complex. We report a rare case of a 56-year-old woman with a solitary neurofibroma of the right breast sulcus.
2018: Ecancermedicalscience
Beren Karaosmanoglu, Çetin Y Kocaefe, Figen Söylemezoğlu, Banu Anlar, Ali Varan, İbrahim Vargel, Sükriye Ayter
BACKGROUND: Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder that affects both the skin and the nervous system. NF1 occurs due to the mutations in the NF1 gene. Neurofibromas are the most common Schwann cell-based tumors in NF1 patients, which are mainly categorized into dermal and plexiform neurofibromas. Studies on different tumor types demonstrate that CXCR4 expression increases in tumor tissues and is linked to metastasis and cancer progression. PURPOSE: In the present study, we aimed to analyze the gene expression of CXCR4, and its ligand CXCL12, in human neurofibromas...
February 17, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Mahdi Khajavi Md, Shahrokh Khoshsirat Md, Lida Ahangarnazari Md, Niloofar Majdinasab Md
Plexiform neurofibroma (PNF) is a rare variant of neurofibromatosis type1 (NF-1), which histopathologically, is a subtype of benign nerve sheath tumors, neurofibromas (NF). It develops as a result of proliferation in all parts of peripheral nervous system and can cause the functional damage, deformities, pain, considerable mortality, and morbidity and even the increasing risk of malignant transformation in some critical cases. Currently, the surgical intervention is the treatment of choice for PNF patients, which due to the tumor invasion, massive growth, and the chance of postoperative regrowth is not possible...
January 10, 2018: Current Problems in Cancer
Sanjay Mhalasakant Khaladkar, Surbhi Chauhan, Raghav Kalra, Shishir Chauhan
Segmental neurofibromatosis type 5 (NF5) is a rare form of NF, in which the cutaneous and/or neural changes are confined to one region of the body. It is often underdiagnosed or undetected due to the absence of symptoms. Inheritance of NF is different from other types of NF. Intraosseous neurofibromas are rare tumors which develop from nerves supplying the periosteum or nerves following the intraosseous course. Plexiform neurofibroma with associated intraosseous neurofibroma is extremely rare. We report a case of plexiform neurofibroma in the left axilla of a 17-year-old female with associated intraosseous neurofibroma in adjoining left humerus...
2018: Journal of Clinical Imaging Science
Rachel Barry, Antoinette O' Connor, Mohn Hazriq Awang, Orna O' Toole
A 58-year-old right-handed woman presented to our institution with a 1-month history of polydipsia and polyuria. She had a remote history of neurofibroma excision by dermatology and, on examination, was noted to meet the clinical diagnostic criteria for neurofibromatosis type 1. Laboratory investigations revealed hypernatraemia and elevated serum osmolality, accompanied by reduced urinary osmolality. A subsequent water deprivation test confirmed central diabetes insipidus, which responded to treatment with desmopressin...
February 11, 2018: BMJ Case Reports
Reinhard E Friedrich, Anika Reul
Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients. Material and Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls...
October 2017: Journal of Oral & Maxillofacial Research
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