Search results for " Lipoma"

Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

2016

Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients with ECCL have been reported. Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. Here we report the results of molecular genetic studies in three patients with OES and one with ECCL. In all four…

Post-traumatic lipoma of the parotid gland: case report

2008

The incidence of lipoma among parotid tumours ranges from 0.6% to 4.4%, with most series reporting an incidence of 1%. The most common origin of these tumours, in the parotid gland, is from the superficial lobe and, only rarely, from the deep lobe. Lipomas, upon clinical history, are found to be most frequently related to an episode of trauma. Computed Tomography scan and Magnetic Resonance Imaging can lead to a pre-operative diagnosis of lipoma. The case is described of lipoma of the superficial lobe of the parotid gland.

Diffuse Lipomatosis of the Thyroid Gland

2021

Giant subcutaneous lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers syndrome: The first literature report of “laparoscopic” excision

2020

Background MERRF (Myoclonic Epilepsy with Ragged Red Fibers) is a rare multisystem clinical disorder due to a pathogenic variant of the mitochondrial DNA. Rare symptoms of MERRF include multiple systemic lipomatosis with symmetric uncapsulated lipomas occurs generally on the posterior cervical region and upper back. Methods We report the clinical case of a 46 years-old Caucasian man with MERRF syndrome who presented with MSL on the right cervical region. We decided to perform a mini-invasive approach using laparoscopic instruments. We performed a 10-mm incision about 5 cm under the mass and conducted a blunt dissection of the subcutaneous plane. Then we positioned a 10-mm port and started C…

La lipomatosi congenita infiltrante del volto. Caso Clinico

2016

Congenital infiltrating lipomatosis of the face, first described by Beck in 1836, is a rare condition of unknown etiology, characterized by widespread infiltration of mature fat cells in the context of tissues softening of the face, with associated consequent bone deformities. It is presented as an isolated or associated condition hemimegalencephaly and neurocutaneous syndromes. We describe the case of a 10-year-old patient with known lipomatosis congenital of the face, arrived at our structure for follow up with Computed Tomography (CT) and Resonance Magnetic (RM) ..

Acute traumatic acromionclavicular jointlesions: role of ultrasound versus conventional radiography

2005

Cervical lymph node metastasis in squamous cell carcinoma of the buccal mucosa: a retrospective study on pattern of involvement and clinical analysis

2020

Background The study was performed with an aim to map the pattern of metastasis of squamous cell carcinomas of buccal mucosa to various cervical lymph node levels and analyze its correlation with primary tumor size and histo-pathological grading. Material and Methods 254 patients with squamous cell carcinoma of the buccal mucosa treated with surgery first approach were analyzed retrospectively. The tumor size was noted from pre-operative CT Scans and were divided into early and advanced tumors. The resected specimen was studied to note the histo-pathological grading of the squamous cell carcinoma and the metastatic deposits at various lymph node levels. Results Out of 254 patients (149 fema…

Gigantic tongue lipoma : a case report

2006

Lipomas are among the most common tumors of the human body. However, they are uncommon in the oral cavity. In the oral cavity they present as a slow growing, painless, and assymptomatic yellowish submucosal mass. Surgical excision is the treatment of choice with recurrence not expected. They have been known to grow to large sizes causing mastication and speech difficulties. The usual lesions consist of a well circumscribed, lobulated mass of mature fat cells. In other situations the covering mucosa becomes ulcerated and presents difficulties in diagnosis. The present report is of a patient who presented with a gigantic lipoma on the tip of the tongue which had been present for 3 years. She …

Intraoral lipomas: A clinicopathological study of 43 cases, including four cases of spindle cell/pleomorphic subtype

2018

Background The aim of this study was to describe the clinicopathological characteristics of 43 intraoral lipomas and classify them according to their microscopic variants. Material and Methods All the cases of intraoral lipomas diagnosed at an Oral Pathology service were selected for the study. Clinical data, such as age, gender, location, time of evolution, clinical presentation, clinical hypothesis of diagnosis, and treatment, were collected from the clinical files. Results Of the 43 cases analyzed, 24 (55.8%) occurred in women. The mean age was 77.4 years. The most affected site was the buccal mucosa (22 cases, 51.1%). The mean lesion size was 1.7 cm. Twenty-three cases (53.5%) were clas…

Large intraoral spindle cell lipoma

2021

Lipomas are relatively common benign neoplasms composed by mature fat cells. Apart from conventional lipomas, several other subtypes have been described in the oral cavity, including fibrolipoma, myxoid lipoma, angiolipoma, myolipoma, chondrolipoma, osteolipoma and spindle cell lipoma (SCL). Intraoral SCL is rare, representing from 1.4% to 9.8% of all intraoral lipomas. The aim of the present study is to report a case of a large intraoral SCL of the buccal mucosa affecting a 46-year-old male, calling attention to its clinical and histological features and to its successfull surgical conservative management. Key words:Lipoma, spindle cell, oral, buccal mucosa.