Biópsia excisional de lipoma em fundo de vestíbulo mandibular: um relato de caso / Excisional biopsy of lipoma in the buccal mandibular vestibule: a case report

Introdução: os lipomas são as neoplasias benignas de origem mesenquimal mais comum, podendo acometer diversas partes do corpo, sendo a região maxilofacial, de fato, uma das menos frequentes. Clinicamente, manifestam-se como aumentos de volume de crescimento lento e circunscrito, de base séssil ou pediculada, superfície lisa e consistência macia e coloração amarelada. Os sítios intra-orais mais acometidos são a mucosa jugal e o vestíbulo bucal.Dentre suas variantes microscópicas mais comuns, estão o fibrolipoma, composto de um componente fibroso. No entanto, tais variações não afetam o prognóstico do seu tratamento, que deve ser realizado através da excisão conservadora da lesão. OBJETIVO: O presente trabalho tem como objetivo relatar um caso atípico de lipoma intra-oral. DESCRIÇÃO DO CASO: Paciente do sexo feminino, 67 anos, apresentou-se com aumento de volume em região de fundo de vestíbulo mandibular com evolução de, aproximadamente, 10 meses, indolor, com queixas de dificuldade no posicionamento da prótese dentária inferior. O diagnóstico inicial foi de lipoma, confirmado por análise anatomopatológica através de biópsia excisional da peça. Considerações finais: O tratamento de lipomas intra-orais preconizado pela literatura é a excisão local, obtida por meio da biópsia excisional, sendo uma solução eficaz e de baixa morbidade ao paciente(AU)

Introduction: lipomas are the most common benign neoplasms of mesenchymal origin, which can affect different parts of the body, with the maxillofacial region, in fact, one of the least frequent. Clinically, they manifest as slow-growing, circumscribed swellings, with a sessile or pedunculated base, smooth surface, soft consistency and yellowish color. The most affected intraoral sites are the buccal mucosa and the buccal vestibule. Among its most common microscopic variants are the fibrolipoma, composed of a fibrous component. However, such variations do not affect the prognosis of its treatment, which must be carried out through conservative excision of the lesion. OBJECTIVE: This study aims to report an atypical case of intraoral lipoma. CASE DESCRIPTION: A 67-yearold female patient presented with swelling in the bottom region of the mandibular vestibule with an evolution of approximately 10 months, painless, with complaints of difficulty in positioning the lower dental prosthesis. The initial diagnosis was lipoma, confirmed by anatomopathological analysis through excisional biopsy of the specimen. Final considerations: The treatment of intraoral lipomas recommended by the literature is local excision, obtained through excisional biopsy, being an effective solution with low morbidity for the patient(AU)

Giant lipofibromatous hamartoma of median nerve in a child

Lipofibromatous hamartoma (LFH) is a rare fibrofatty tumor of adipocytes within peripheral nerves, affecting mainly children. It typically presents as a palpable mass surrounding the nerves of the upper limbs, causing pain and neurological deficits in the affected nerve distribution. We report the case of a child with a 2-years presentation of a mass in the right wrist associated with pain and paresthesia, who underwent investigation with magnetic resonance imaging (MRI). It showed thickening of the median nerve with spaghetti-like appearance associated with lipomatous tissue in a coaxial cable-like pattern, both features characteristic of LFH. This case illustrates the importance of MRI in the differential diagnosis of limb masses in the pediatric population.

Soft Tissue Masses: Evaluation and Treatment.

Soft tissue masses are a common presentation in family physician offices. Although most lesions, including lipomas, fibromas, and epidermal and ganglion cysts, are benign, rare lesions such as soft tissue sarcomas may have serious consequences. Masses that are deep to the fascia, are 5 cm in diameter or larger, grow rapidly, or present suddenly without explanation should prompt further workup. Imaging for concerning lesions may include ultrasonography, radiography, and sometimes magnetic resonance imaging with contrast. Ultrasonography can be used to assess size, depth, solid or cystic nature, and associated vasculature. Magnetic resonance imaging with contrast provides spatial orientation and delineation of soft tissue sarcomas from surrounding tissues such as muscles. Although less commonly used, computed tomography is an alternative in the initial evaluation of concerning masses and can assist with staging of retroperitoneal and visceral sarcomas. Incisional biopsy of a concerning soft tissue mass can also be useful for establishing a diagnosis. Lipomas and epidermal cysts may be excised if they are painful or if there is concern for malignancy. Because of the high mortality rate of soft tissue sarcomas, evaluation of high-risk masses with magnetic resonance imaging with contrast should be expedited with a referral to orthopedic oncology.

Therapeutic potential of small extracellular vesicles derived from lipoma tissue in adipose tissue regeneration-an in vitro and in vivo study.

OBJECTIVE: To explore the adipogenic effects of the small extracellular vesicles derived from the lipoma tissues (sEV-LT), and to find a new cell-free therapeutic approach for adipose tissue regeneration. METHODS: Adipose tissue-derived stem cells (ADSCs) and small extracellular vesicles derived from the adipose tissues (sEV-AT) were isolated from human adipose tissue, while sEV-LT were isolated from human lipomatous tissue. ADSCs were characterized by using flow cytometric analysis and adipogenic and osteogenic differentiation assays. sEV was identified by electron microscopy, nanoparticle tracking, and western blotting. ADSCs were treated with sEV-LT and sEV-AT, respectively. Fluorescence confocal microscopy was used to investigate whether sEV-LT and sEV-AT could be taken by ADSCs. The proliferation and migration abilities and adipogenic differentiation assay of ADSCs were evaluated by CCK-8 assays, scratch test, and oil red O staining test, and the expression levels of adipogenic-related genes C/EBP-δ, PPARγ2, and Adiponectin in ADSCs were assessed by real-time quantitative PCR (RT-PCR). The sEV-LT and sEV-AT transplantation tubes were implanted subcutaneously in SD rats, and the neotissues were qualitatively and histologically evaluated at 2, 4, 8, and 12 weeks after transplantation. Hematoxylin and eosin (H&E) staining was subsequently used to observe and compare the adipogenesis and angiogenesis in neotissues, while immunohistochemistry was used to examine the expression and the distribution of C/EBP-α, PPARγ, Adiponectin, and CD31 at the 4th week. RESULTS: The in vitro experiments showed that both sEV-LT and sEV-AT could be taken up by ADSCs via endocytosis. The scratch experiment and CCK-8 experiment showed that the migration area and proliferation number of ADSCs in sEV-LT group and sEV-AT group were significantly higher than those in the non-sEV group (p < 0.05). Compared with sEV-AT group, sEV-LT group had larger migration area and proliferation number of ADSCs (p < 0.05). Oil red O staining and RT-PCR experiments showed that, compared with the non-sEVs group, the lipid droplets and the mRNA expression levels of adipogenesis-related genes PPARγ2 and Adiponectin of ADSCs in sEV-LT group and sEV-AT group were significantly upregulated (p < 0.05); however, there was no statistical significance in the expression level of C/EBP-δ (p > 0.05). In addition, no significant difference in the amount of lipid droplets and adipogenesis-related genes between the sEV-LT groups and sEV-AT was seen (p > 0.05). At 2, 4, 8, and 12 weeks, the adipocyte area and the number of capillaries in neotissues in the sEV-LT groups and sEV-AT groups were significantly increased compared with the Matrigel group (p < 0.05); however, there was no dramatic difference between sEV-LT groups and sEV-AT groups (p > 0.05). At the 4th week, neotissues in the sEV-LT groups and sEV-AT groups all showed upregulated expression of C/EBP-α, PPARγ, Adiponectin, and CD31 protein, while neotissues in the Matrigel group only showed positive expression of CD31 protein. CONCLUSIONS: This study demonstrated that sEV-LT exerted promotion effects on adipose tissue regeneration by accelerating the proliferation, migration, and adipogenic differentiation of ADSCs in vitro and recruiting adipocytes and promoting angiogenesis in vivo. The sEV-LT could serve as an alternative cell-free therapeutic strategy for generating adipose tissue, thus providing a promising application prospect in tissue engineering.

Calcaneal Bone Tumors.

Bone tumors of the foot are an uncommon finding. Most tumors are found incidentally on imaging and are benign. Care must be taken although due to the aggressive nature of malignant bone tumors that can occur in the calcaneus. Malignant lesions will more commonly present with symptoms of pain and swelling. Often misdiagnosed as soft tissue injuries, it is critical to be able to diagnose and treat these lesions early. Imaging plays an important role with plain films and advanced imaging. Surgical treatments can range from curettage with grafting to amputation for more aggressive lesions.

Diagnostic and management challenges for MDM2-, CDK4-negative fatty tumors of the retroperitoneum.

BACKGROUND: Neoplasms of the retroperitoneum that contain a major fat component may represent either benign entities, such as lipomas or angiomyolipomas, or malignancy such as liposarcoma. Distinguishing these diagnoses has important implications for management. While liposarcomas often stain positively for MDM2 and CDK4 proteins, absence of these markers can lead to diagnostic and management challenges. METHODS: We examined three cases in our institution of fat-containing masses of the retroperitoneum that lacked MDM2 and CDK4 markers to highlight the challenges in diagnosing and managing these cases. A thorough review of the literature examining radiologic and histologic features that can be used to determine that diagnosis was conducted and summarized. RESULTS: The three cases we present represent the three main diagnostic entities that can be found in among fatty tumors of the retroperitoneum: lipoma, angiomyolipoma, and liposarcoma. While radiologic features and analysis of histology helped to inform management, these cases in conjunction with the literature also illustrate the limitations of the diagnostic work up and importance also factoring the biologic behavior of the tumor in its management. CONCLUSION: Fat-containing tumors of the retroperitoneum that do not stain for MDM2 or CDK4 can pose a diagnostic challenge. Assessing radiologic and pathologic features in conjunction with the biologic behavior of these tumors should inform their management.

Overgrowth syndromes and new therapies.

Overgrowth syndromes represent a diverse group of disorders with overlapping features. Interdisciplinary management by a team of experts in vascular anomalies is crucial for establishing the correct diagnosis and optimizing outcomes for these patients. Unique management considerations include increased risk for thrombosis and in some cases, cancer. In recent years, research has demonstrated that these disorders are primarily caused by somatic mutations in growth pathways, particularly the PI3K-mTOR pathway. This improved understanding had led to promising new therapies for this group of patients.

Orthopedic issues in vascular anomalies.

Vascular anomalies impact the musculoskeletal system dependent on the tissue involved (skin, subcutis, muscle, cartilage, or bone), the extent of involvement, and the type of anomalous vessels (arteries, capillaries, veins, or lymphatics). These malformations can cause a multitude of musculoskeletal problems for the patient. Leg-length discrepancy, intra-articular involvement, muscular lesions, and primary or secondary scoliosis are amongst the issues that patients face. All of these problems can cause pain, deformity, and a range of functional limitations. Surgical and nonsurgical treatment plans have a role in patient care. Patients with vascular anomalies may also suffer from life-threatening cardiovascular and hematologic abnormalities. For those patients who undergo surgery, the thromboembolic risk is elevated, wound breakdown and infection are much more common, and bleeding risk continues well into the postoperative course. Because of the complex nature of these disorders, the clinician must have a full understanding of the types of lesions, their natural history, appropriate diagnostic studies, associated medical problems, indications for treatment, and treatment options. For severe malformations, especially syndromes such as CLOVES and Klippel- Trenaunay syndrome, interdisciplinary team management is essential for the best outcomes.

Imaging of spindle cell lipoma.

AIM: To review the evaluation, diagnosis, and treatment of spindle cell lipoma (SCL) with emphasis on the location of these tumours and the spectrum of magnetic resonance imaging (MRI) and computed tomography (CT) appearances. MATERIALS AND METHODS: The MRI and CT findings of 27 histopathologically proven SCLs were evaluated retrospectively. Imaging features evaluated included margins, percentage visible fat, MRI signal characteristics, oedema, and contrast enhancement patterns. RESULTS: Patient ages ranged from 18 to 80 years with an average age of 56.5 years. Men were affected twice as frequently as women (M=18, F=9). SCLs ranged in size from 2 to 10 cm, with an average greatest dimension of 5.5 cm. Five lesions (19%) contained no visible fat on CT or MRI, and the leading differential diagnosis of high-grade soft-tissue sarcoma diagnosis was suggested by referring surgeons. Five lesions (19%) had <50% fatty areas, nine lesions (52%) demonstrated >50% but <90% fat at MRI or CT. Only three of 25 lesions (12%) had an appearance of a typical lipoma on unenhanced MRI sequences. All SCLs that were imaged with contrast medium (n = 18) demonstrated some degree of enhancement, with eight (44%) showing marked enhancement, four (22%) showing moderate, and six (33%) minimal enhancement. CONCLUSION: SCLs have considerably variable imaging appearances and may have minimal or no visible fat at MRI or CT. Imaging features may make it difficult to distinguish this benign tumour from a potentially higher-grade malignant tumour.

Holoprosencephaly or severe hydrocephalus: T1 sequence tells the story.

Intracranial lipoma is a relatively rare benign lesion. Many are incidental findings; however, some others may present with headache, hydrocephalus or other neurological symptoms; thus, correct diagnosis of this condition is important. These lesions are of high signal intensity on T2-weighted MRI and especially those close to cerebrospinal fluid (CSF) spaces, can easily be overlooked in the background of high signal intensity of CSF. Here, we present a case of tectal lipoma, with subsequent severe hydrocephalus and absence of septum pellucidum which was initially misinterpreted as a form of holoprosencephaly, due to inadequate attention to T1-weighted images.

What's New in Genetic Skin Diseases.

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care.

Tumors of the Ischiorectal Fossa: A Single-Institution Experience.

BACKGROUND: Ischiorectal fossa tumors are rare. OBJECTIVE: This study reviews a single institution's series of ischiorectal tumors with comparison against presacral tumors and assesses the utility of preoperative biopsy and angioembolization. DESIGN: This is a retrospective study. SETTINGS: This study was conducted at a quaternary referral center. PATIENTS: All patients with ischiorectal tumor treated between February 1995 and April 2017 were retrospectively reviewed. Tumors extending secondarily into the ischiorectal fossa and inflammatory pathologies were excluded. INTERVENTIONS: Preoperative biopsy, neoadjuvant therapy, angioembolization, and surgical excision of these tumors were reviewed. MAIN OUTCOME MEASURES: Demographic, perioperative, pathological, and oncologic outcomes were evaluated. RESULTS: Twenty-four patients (15 female; median age 54) were identified. Two-thirds were symptomatic. Forty-six percent had a palpable mass. All patients had CT and/or MRI. Fifty percent had a preoperative biopsy, of which 83% were diagnostic, and management was altered in 50%. All patients underwent surgical excision. Fifty-five percent had local excision, 38% had radical pelvic excision, and 8% had total mesorectal excision. Two patients had preoperative angioembolization. Both had successful R0 local excision. Morbidity occurred in 25%, with 1 major complication. There was no 30-day mortality. Histopathology demonstrated 17 soft tissue tumors (3 malignant), 2 GI stromal tumors, 1 neuroendocrine tumor, 1 Merkel cell carcinoma, 1 basaloid carcinoma, 1 epidermal cyst, and 1 lipoma. R0 resection was achieved in 75%. All patients were alive after a median follow-up of 33 months. Four patients developed recurrence at a median 10 months postoperatively. All recurrences were malignant, and 75% had had a R1 resection. LIMITATIONS: This study is limited by its small numbers. The quaternary institution source may introduce bias. CONCLUSIONS: Ischiorectal fossa tumors are heterogeneous and more likely to be malignant than presacral tumors. Biopsy can be useful if a malignant diagnosis is suspected and changes management in 50% of cases. Preoperative embolization may be useful for large vascular tumors. R0 resection is important to minimize recurrence. See Video Abstract at http://links.lww.com/DCR/A779.

Lipoma removal using a high-frequency ultrasound-guided injection of a Class III CE-marked device-Empirical findings.

BACKGROUND: Lipomas are very common benign neoplasms, which constitute 99% of all adipose-derived tumors. Main treatment option includes surgical excision, which is unacceptable for a number of patients seeking ways to improve esthetic appearance of their skin. Therefore, alternative treatment options are being sought. OBJECTIVE: The aim of the present study was to assess the efficacy of lipoma removal using a Class III CE-marked device (Aqualyx™) administered as a high-frequency ultrasound-guided injection (intralipotherapy). METHODS: A total of 17 lipomas were treated. The procedure involved a high-frequency ultrasound-guided injection. A maximum of 3 injections per a lipoma were performed. High-frequency ultrasound was used for assessing the size of lipomas and monitoring treatment-induced changes to the lipomas and adjacent tissue. RESULTS: Response to treatment was achieved in all cases. A complete removal was achieved in 70.59% of lipomas. The remaining 29.41% of lipomas were not completely removed, yet significantly reduced in size. CONCLUSION: An injection of Aqualyx™, a CE-marked drug, is a good noninvasive treatment of lipomas. Ultrasound guided procedure is recommended, as it ensures appropriate technique and enables monitoring treatment-induced changes. Considering a low number of published reports of such treatment, it is crucial to continue this research.

Clinical presentation, diagnostic approach, and treatment of hand lipomas: a review.

Lipomas are the most common soft tissue tumors of mesenchymal origin. They can appear anywhere on the body, and in rare cases they may present on the hands. Lipomas represent approximately 1% to 3.8% of all benign tumors in the hands. Typically, lipomas present in the fifth or sixth decade of life, occurring in both men and women. Lipomas may appear anywhere on the hand, often presenting as painless, slow-growing, and mobile masses. Symptoms may develop if local neurovascular structures are compressed. Differential diagnosis includes liposarcoma and fibrolipomatous hamartoma. To assist with clinical diagnosis, ultrasound, computed tomography, or magnetic resonance imaging may be utilized. The best way to confirm diagnosis is with histopathology. The main treatment for hand lipomas is surgical excision. Postoperative recurrence is rare.

Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.

OBJECTIVE: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE). METHODS: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Of these, the patients who had PE were screened for thromboembolic risk factors in addition to phlebectasia and the presence of persistent embryonic veins. Treatment outcomes following subsequent endovascular and medical therapies were reported. RESULTS: A total of 12 KTS patients of 96 (12.5%) and 10 CLOVES syndrome patients of 110 (9%) suffered PE. Fourteen patients (64%) developed PE after surgery or sclerotherapy. All of the patients had abnormally dilated central or persistent embryonic veins; 20 patients were treated with anticoagulation (1 died at the time of presentation, and no information was available for 1) after PE, and 14 (66%) patients underwent subsequent endovascular treatment. Five patients developed recurrent PE despite anticoagulation. Two of the patients died of PE. No patients treated with endovascular closure of dilated veins had subsequent evidence of PE. CONCLUSIONS: Patients with KTS and CLOVES syndrome are at high risk for PE, particularly in the postoperative period.

Cystic bone tumors of the foot and ankle.

Bone tumors are relatively rare in the foot and ankle region. Many of them present as cystic lesions on plain films. Due to the relative rarity of these lesions and the complex anatomy of the foot and ankle region, identification of such lesions is often delayed or they get misdiagnosed and mismanaged. This review discusses the most common cystic tumors of the foot and ankle including their radiographic features and principles of management.

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.