Pelvic plexiform neurofibromatosis presenting with genital numbness.

Pelvic plexiform neurofibromatosis presenting with genital numbness. Pract Neurol. 2019 Dec 09;: Authors: Leung LY, Shah S, Seth J, Pakzad M, Afridi S, Panicker JN PMID: 31818923 [PubMed - as supplied by publisher]
Source: Practical Neurology - Category: Neurology Authors: Tags: Pract Neurol Source Type: research

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Authors: Chung YH, Jang JW, Cho JY Abstract Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma originating from the sheaths of peripheral nerves. Approximately 50% of MPNSTs occur in patients with neurofibromatosis (NF). These tumors often present as deep soft tissue lesions, arising from the nerve plexuses of the extremities or from the nerves extending from the trunk. They rarely occur in the skin, especially in patients with NF. Herein, we report our experience with an MPNST of the skin in a patient with NF. PMID: 31964130 [PubMed]
Source: Archives of Plastic Surgery - Category: Cosmetic Surgery Tags: Arch Plast Surg Source Type: research
Authors: Petracco G, Patriarca C, Spasciani R, Parafioriti A Abstract Malignant peripheral nerve sheath tumor (MPNST) is an uncommon malignant tumor often associated with Neurofibromatosis type 1 (NF1). Although different soft tissue mesenchymal tumors may arise in the bladder, MPNST is a very rare occurrence. Here, we present a case of MPNST of the bladder in a 50 year old patient with NF1 with involvement of the entire wall of the organ leading to a functional exclusion. The principal differential diagnoses and a short review of the literature are presented. PMID: 31965114 [PubMed - in process]
Source: Pathologica - Category: Pathology Tags: Pathologica Source Type: research
ConclusionSurgery in NF1 vascular involvement should be considered on a case by case basis especially when the risk of iatrogenesis is high. Surgeons need to be aware of hemorrhagic risks, which could occur because of vessel friability.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Neurofibromin is a tumor suppressor encoded by the NF1 gene, which is mutated in Rasopathy disease neurofibromatosis type I. Defects in NF1 lead to aberrant signaling through the RAS–mitogen-activated protein kinase pathway due to disruption of the neurofibromin GTPase-activating function on RAS family small GTPases. Very little is known about the function of most of the neurofibromin protein; to date, biochemical and structural data exist only for its GAP domain and a region containing a Sec-PH motif. To better understand the role of this large protein, here we carried out a series of biochemical and biophysical exp...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Protein Structure and Folding Source Type: research
AbstractNeurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by pathogenic variants in theNF2 gene. The pathogenic variant is either inherited or obtained by de novo mutation, characterised by the presence of schwannomas, meningiomas and ependymomas. Here we report the presence ofNF2 in one twin, with bilateral vestibular schwannomas and a pathogenic variant of theNF2 gene identified in both tumour and lymphocytes, while his monozygous brother remains asymptomatic. Imaging of the unaffected twin showed no tumour load and genetic testing via Sanger sequencing and Amplification Refractory Mutation System ...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
PMID: 31930474 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
ConclusionsOverall, our study confirms thatNf1+/ − mice exhibit deficits in behavioral inhibition in multiple contexts, a key feature of ADHD, and can be used as a model system to identify alterations in neural circuitry associated with symptoms of ADHD in children with NF1.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
In conclusion, despite the contribution of new imaging techniques and despite relative advancement, the cognitive phenotype of NF1 patients is not totally understood.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Hai-En Wu, Tie-Nan Li, Chun-Lin Jin, Yong-Bin LiuIndian Journal of Dermatology 2020 65(1):81-83
Source: Indian Journal of Dermatology - Category: Dermatology Authors: Source Type: research
Publication date: March 2020Source: Human Pathology: Case Reports, Volume 19Author(s): Xiuyan Feng, Hongzhi Xu, Nestor Dela CruzAbstractMucosal Schwann Cell Hamartoma (MSCH) of the gastrointestinal (GI) tract is an incidental finding by screening colonoscopy, rarely reported in the English literature since first described in 2009. We diagnosed a case of sigmoid colon MSCH in a 60-year-old female without a family history or medical history of Neurofibromatosis Type 1 (NF1, von Recklinghausen’s disease), neuronal lesion, MEN2, or other syndromes. The endoscopic exam revealed a 4 mm sessile polyp with no erosion or...
Source: Human Pathology: Case Reports - Category: Pathology Source Type: research
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