Neurofibroma of the hard palate

2021 ◽  
Vol 14 (4) ◽  
pp. e239887
Author(s):  
Bethany Cartwright ◽  
Kenneth Corsar
Keyword(s):  
Soft Tissue ◽  
Hard Palate ◽  
Soft Tissue Mass ◽  
Treatment Options ◽  
Neurofibromatosis Type ◽  
Incisional Biopsy ◽  
Tissue Mass ◽  
Benign Tumours

Neurofibromas are defined as benign tumours arising from peripheral nerve sheaths. Few intraoral palatal cases have been reported. Neurofibromas can occur as part of neurofibromatosis, type 1 (NF1) or type 2 (NF2). A 41-year-old patient presented with a slowly enlarging soft tissue mass on the hard palate. An incisional biopsy was performed, which confirmed the diagnosis of a neurofibroma associated with NF1. It should be considered that there is a chance of malignant transformation. Here, we discuss the clinical features, types, diagnosis, histopathology and treatment options.

scholarly journals Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Rachna Rath ◽  
Sheetal Kaur ◽  
Shadab Ali Baig ◽  
Punyashlok Pati ◽  
Sonalisa Sahoo
Keyword(s):  
Soft Tissue Mass ◽  
Three Dimensional ◽  
Neurofibromatosis Type ◽  
Lytic Lesion ◽  
Type I ◽  
Tissue Mass ◽  
Cross Sectional ◽  
Distinct Disease ◽  
Magnetic Resonance Imaging Mri

Neurofibromatosis type 1 (NF1) is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO) and extraosseous (EO) neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG), three-dimensional computed tomography (3D CT) and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI) helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

Multiple Schwannomas of the Lower Extremity

2020 ◽  
Vol 110 (5) ◽  
Author(s):  
Joseph T. Watson ◽  
Jorge A. Hernandez ◽  
Rusheena Bartlett
Keyword(s):  
Soft Tissue Mass ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Resonance Imaging ◽  
Mosaic Pattern ◽  
Tissue Mass ◽  
Pathologic Analysis ◽  
Multiple Schwannomas

This case study presents a 72-year-old male patient who presented with multiple schwannomas. The patient underwent several soft-tissue mass excisions performed by general surgery and podiatry. The physical examination displayed multiple nodules on the left foot, ankle, and previously in the groin. Magnetic resonance imaging displayed high–T2-weighted signal masses in the left plantar heel and ankle. These masses were excised and, through pathologic analysis, were diagnosed as schwannomas. Immunohistochemistry displayed a mosaic pattern of INI1 expression, a gene associated with tumor suppression. The patient demonstrated findings consistent with multiple schwannomas (eg, schwannomatosis or neurofibromatosis type 2). Because of the patient's medical history, neurofibromatosis type 2 was more probable.

Acral Fibrokeratoma

2018 ◽  
Vol 108 (2) ◽  
pp. 172-177 ◽  
Author(s):  
Dyane E. Tower ◽  
Jeffrey R. Hammond
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Clinical Presentation ◽  
Soft Tissue Mass ◽  
Treatment Options ◽  
Differential Diagnoses ◽  
Tissue Mass ◽  
Pathologic Findings ◽  
Second Toe

Acral fibrokeratoma is a rare soft-tissue mass, more commonly found on the hands and rarely on the feet. This case report of a 40-year-old Hispanic man highlights an unusually located acral fibrokeratoma on the second toe, describes the clinical presentation and microscopic and pathologic findings, discusses differential diagnoses, and presents treatment options.

Penile Amputation and Scrotal Urethrostomy Followed by Chemotherapy in a Dog with Penile Hemangiosarcoma

2015 ◽  
Vol 51 (1) ◽  
pp. 25-30 ◽  
Author(s):  
Luiz Bolfer ◽  
Joanna M. Schmit ◽  
Amy L. MacNeill ◽  
Chantal A. Ragetly ◽  
R. Avery Bennett ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Incisional Biopsy ◽  
Tissue Mass ◽  
Standard Poodle ◽  
Penile Amputation ◽  
Abdominal Radiographs ◽  
History Of ◽  
Os Penis

A 7 yr old castrated male standard poodle weighing 25 kg was presented with a 5 day history of hematuria, dysuria, and the presence of a 2.5 cm, firm swelling within the prepuce. Abdominal radiographs revealed a soft-tissue mass on the distal prepuce and lysis of the cranial margin of the os penis. The patient was sedated and an ulcerated hemorrhagic mass was identified at the tip of the penis. The mass was diagnosed as hemangiosarcoma via incisional biopsy. A penile amputation with scrotal urethrostomy was performed followed by chemotherapy with doxorubicin.

scholarly journals Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC

2020 ◽  
Vol 12 ◽  
pp. 175883592097084
Author(s):  
Hong Yang ◽  
Zhimin Liu ◽  
Yufang Wang ◽  
Jun Li ◽  
Ruiqian Li ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Soft Tissue ◽  
Urothelial Carcinoma ◽  
Germline Mutation ◽  
Soft Tissue Mass ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Upper Urinary Tract ◽  
Response Monitoring ◽  
Tissue Mass

Urothelial carcinoma (UC) is a common malignancy of the lower and upper urinary tract. Recurrent UC has poor prognosis due to delayed diagnosis and a lack of clinical management guidance, especially for upper urinary tract UC. Patients with germline or somatic BRCA1/2 mutations are a special population in UC. No evidence is available so far on the effectiveness of poly ADP-ribose polymerase inhibitor (PARPi) in this population. Here, we report a 60-year-old female patient diagnosed with left ureter high-grade UC. Recurrent lesions were found 20 months after radical surgery. Computed tomography (CT) examination showed a slightly high-density soft tissue mass (3.2 × 3.1 cm) on the left posterior wall of the abdomen (waist), soft tissue mass adjacent to the left inner wall of the pelvis (3.2 × 4.2 cm), and multiple enlarged lymph nodes to the left of abdominal aorta. A next-generation sequencing (NGS)-based 605-gene panel detected a novel BRCA2 pathogenic germline mutation c.1670T>A (p.L557*), and a series of somatic insertion and deletion (INDEL) mutations of BRCA1, RB1, and JAK2, and single nucleotide variation (SNV) mutations of TP53, KMT2D, MET, ROS1, and IL7R. The above lesions were reduced significantly or disappeared (partial response, PR) after a 3-month Olaparib treatment, and the patient’s general condition remained well. In conclusion, this study proved for the first time that PARPi was effective for UC treatment in patients carrying germline BRCA2 pathogenic mutations, providing new treatment options for such patients. In addition, the circulating tumor DNA (ctDNA) test can be used for drug selection and response monitoring in UC treatment.

scholarly journals EXPRESS: Pulmonary Hypertension Associated With Neurofibromatosis Type 2

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Remodeling ◽  
Life Threatening ◽  
History Of ◽  
Pulmonary Arterial ◽  
First Time

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

Soft tissue mass of the thigh: presentation

2007 ◽  
Vol 36 (12) ◽  
pp. 1177-1177 ◽  
Author(s):  
Tomoya Sakabe ◽  
Hiroaki Murata ◽  
Yukiko Tokumoto ◽  
Kazutaka Koto ◽  
Takaaki Matsui ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Mass ◽  
Tissue Mass

Resection of 2 Intradural Extramedullary Cervical Spine Tumors in a Patient With Neurofibromatosis Type 2: 3-Dimensional Operative Video

2018 ◽  
Vol 16 (2) ◽  
pp. 274-274
Author(s):  
Simone E Dekker ◽  
Chad A Glenn ◽  
Thomas A Ostergard ◽  
Osmond C Wu ◽  
Fernando Alonso ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Cervical Spine ◽  
Treatment Options ◽  
Tumor Resection ◽  
Neurofibromatosis Type ◽  
Cord Compression ◽  
Neurofibromatosis Type 2 ◽  
3 Dimensional ◽  
Intradural Extramedullary

Abstract This 3-dimensional operative video illustrates resection of 2 cervical spine schwannomas in a 19-yr-old female with neurofibromatosis type 2. The patient presented with lower extremity hyperreflexity and hypertonicity. Magnetic resonance imaging (MRI) demonstrated 2 contrast-enhancing intradural extramedullary cervical spine lesions causing spinal cord compression at C4 and C5. The patient underwent a posterior cervical laminoplasty with a midline dural opening for tumor resection. Curvilinear spine cord compression is demonstrated in the operative video. After meticulous dissection, the tumors were resected without complication. The dural closure was performed in watertight fashion followed by laminoplasty using osteoplastic titanium miniplates and screws. Postoperative MRI demonstrated gross total resection with excellent decompression of the spinal cord. The postoperative course was uneventful. The natural history of this disease, treatment options, and potential complications are discussed.

Sign in / Sign up

Export Citation Format

Share Document