McTighe, Shane; Chernev, Ivan
Lipomas are the most common type of soft tissue mesenchymal tumors. They are typically located subcutaneously and consist of mature fatty tissue. When they occur under the enclosing fascia, they are called deep-seated lipomas. Infrequently, lipomas can arise inside the muscle and are called intramuscular lipomas. Intramuscular lipomas have been commonly investigated and categorized in the same group as other deep-seated and superficial lipomatous lesions. Their clinical, histological and imaging characteristics may resemble well-differentiated liposarcomas, further adding to the difficulties in the differential diagnosis. This article summarizes the available literature and describes the typical epidemiological, pathological and clinical features of intramuscular lipomas, as well as delineating their treatment and prognosis. PMID:25568733
Chan, K C; Lin, N H; Lien, H C; Chan, S L; Yu, S C
Colonic lipomas are rare, usually small, and occur most often in the right colon, particularly in the cecum. They are most common in elderly women. Intermittent episodes of intussusception are not uncommon in patients with colonic lipoma, but they are usually caused by larger pedunculated lipomas. We report a 43-year-old woman with a large colonic submucosal lipoma that induced intermittent colocolic intussusception. The patient presented with symptoms of peptic ulcer, including intractable upper abdominal pain, which did not resolve with treatment. Abdominal sonography showed typical findings of intussusception caused by a lipoma, but the manifestations on barium enema and computed tomography mimicked a malignant colonic tumor. The patient's abdominal pain disappeared after right hemicolectomy and the tumor was demonstrated to be a lipoma. The postoperative course was uneventful; there was no evidence of recurrence at follow-up 6 months later. Physicians should be aware that surrounding organs should also be evaluated in cases of chronic peptic ulcer with intractable upper abdominal pain.
Hunt, G B; Wong, J; Kuan, S
To review the success rates for liposuction of lipomas in dogs, report early complications and medium-term outcomes and formulate recommendations on the most appropriate candidates for liposuction. Retrospective study of 20 dogs with 76 lipomas diagnosed by cytology, in which dry liposuction was attempted. Case records were reviewed for number and size of the lipomas, efficacy of liposuction, frequency and types of complication and likelihood of recurrence. Liposuction was successful in removing 73 of 76 lipomas (96%). Simple, encapsulated lipomas less than 15 cm in diameter were most easily removed, with minimal risk of complication. Giant lipomas contained fibrous trabeculae that hindered liposuction and resulted in poor fat retrieval. Giant lipomas were also associated with a high risk of bruising, haematoma and seroma, especially when inguinal in location. Regrowth was noted at follow-up between 9 and 36 months in 28% of lipomas. Liposuction may be less invasive and more attractive to owners than conventional surgery for lipomas up to 15 cm in diameter. Liposuction is not recommended for infiltrative or giant inguinal lipomas. Regrowth can be expected in a high proportion of lipomas, which should be considered when choosing liposuction over conventional excision. © 2011 British Small Animal Veterinary Association.
Hwang, Jinwook; Min, Byoung-Ju; Shin, Jae Seung
Deep-seated intramuscular lipomas are rare, and most exhibit an infiltrating behavior. This study reports serial radiographs of a lipoma in chest wall muscles which penetrated the intercostal muscle for a 6-year period. Although this lipoma did not involve the parietal pleura, it compressed lung. To the authors’ knowledge, the present study is the first report to show the growth of a deep-seated chest wall lipoma into the thoracic cavity through serial radiographs. We consider the surgical treatment is needed before deep-seated intramuscular chest wall lipoma compress intrathoracic structures. PMID:26623127
Basmaci, Mehmet; Hasturk, Askin E
Lipomas are capsulated benign tumours that are commonly found in all body parts. A lipoma is a well-defined mesenchymal tumour that arises from the adipose tissue. Although giant lipomas are rare in the head and neck regions, when they are located here, they are most commonly found in the subcutaneous posterior neck area. Recurrence as well as invasion is very rare after total surgical excision. In this article, we present two rare cases of giant lipomas in the posterior occipitocervical region, which is an exceptional location. PMID:23112521
Papakostas, Theodoros; Tsovilis, Aristomenis E.; Pakos, Emilios E.
Lipomas are the most common benign mesenchymal tumors. They are located either subcutaneously or under the investing fascia in intramuscular or intermuscular regions. The reported frequency of intramuscular lipomas among all benign adipocytic tumors is 1.0%–5.0% and for intermuscular lipomas is 0.3%–1.9%. The frequency of these lesions is the same in all age groups, but in adults deep seated-lipomas are most commonly discovered between the ages of 30 and 60. The most common sites of involvement of intramuscular lipomas are the large muscles of the extremities, especially those of the thigh, shoulder, and upper arm. Intramuscular lipomas of the hand are extremely rare and only few cases have been reported in the literature. In cases with hand location, they may present with functional deficit or neurovascular compromise due to the effect of the mass. We report an unusual case of a large intramuscular lipoma of the thenar that was treated with surgical excision due to the impairment of hand function. PMID:26894225
Kawarai, Shun-ichi; Yaginuma, Gen-ya; Abe, Kazuo; Hamasaki, Azumi; Ishikawa, Kazunori; Tanaka, Daizo
We describe an extremely rare cardiac lipoma, with electrocardiographic changes in ST segments and T waves, suggesting ischemic heart disease. The abnormal electrocardiogram was identified during a routine physical examination of an asymptomatic 57-year-old man. Coronary angiography showed no stenotic or occlusive lesions in the coronary arteries except that the left anterior descending artery followed a winding course in the apical region. Left ventriculography revealed a pseudoaneurysm-like mass around the apical portion. Computed tomography and magnetic resonance imaging revealed a cardiac lipoma that communicated with the left ventricle and resembled a pseudoaneurysm. After complete resection of the lipoma and left ventricle patch plasty, the postoperative course was uneventful. Histologically, the tumor was an intramyocardiac lipoma with no evidence of malignancy. To our knowledge, we are the first to describe an intramyocardiac lipoma resembling a left ventricle pseudoaneurysm.
Lamagna, Barbara; Greco, Adelaide; Guardascione, Anna; Navas, Luigi; Ragozzino, Manuela; Paciello, Orlando; Brunetti, Arturo; Meomartino, Leonardo
Lipomas are common benign tumours of fat cells. In most cases, surgical excision is curative and simple to perform; however, such a procedure requires general anaesthesia and may be associated with delayed wound healing, seroma formation and nerve injury in deep and intramuscular tumours. The objective of this study was to evaluate treatment of subcutaneous, subfascial or intermuscular lipomas using intralesional steroid injections in dogs. Fifteen dogs presenting with lipomas were selected for treatment with ultrasound-guided intralesional injection of triamcinolone acetonide at a dose of 40 mg/mL. Nine subcutaneous and subfascial tumours showed a complete regression. The other lipomas decreased in diameter, achieving, in some cases, remission of discomfort and regression of lameness. Steroid injection was a relatively safe and effective treatment for lipomas in dogs; only six dogs experienced polyuria/polydipsia for about 2 weeks post-treatment. PMID:23226250
Fitzgerald, Kara; Sanchirico, Paul J; Pfeiffer, David C
We describe a case of a 57-year-old man referred to an oral maxillofacial surgeon for a nontender, large intramuscular tongue mass. A computed tomography scan with contrast showed a homogenous right tongue intramuscular fatty mass measuring 3.8 cm × 2.8 cm in the axial dimension and 2.2 cm in the craniocaudal dimension. Histologic examination revealed multiple lobulated sections of mature adipocytes and occasional entrapped skeletal muscle fibers. The final pathologic diagnosis was intramuscular lipoma. Although lipomas account for approximately 50% of all soft tissue neoplasms, intramuscular (infiltrating) lipoma of the tongue is exceedingly rare.
Mydlo, J H; Shore, N; Reuter, V; Herr, H W
Pure renal and perirenal lipomas are rare. They arise from renal cortex, capsule, or perirenal tissue, and may be difficult to distinguish from renal adenocarcinomas. We report on a patient who presented with a renal mass that had the radiologic findings suggestive of a renal cell carcinoma, but proved to be a simple lipoma.
Su, Andres; Margolies, Laurie
A 61 year-old woman presenting for bilateral screening mammogram was found to have an oval fat-density mass in the posterior right breast, partially visualized, with anterior displacement and thinning of the pectoralis major muscle. This mass was found on CT and MRI correlation to represent a large fat-containing mass, likely a lipoma, deep to the pectoralis major. On subsequent screening mammograms, the visualized portion of the mass remained stable. Subpectoral lipomas and intramuscular lipomas within the pectoralis major are rare, and their appearance on mammography may not be familiar to most radiologists. A review of the literature and a discussion of their appearance on multiple imaging modalities is provided. PMID:29299106
Ponce, José Burgos; Ferreira, Gustavo Zanna; Santos, Paulo Sérgio da Silva; Lara, Vanessa Soares
Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in size and etiology remains unclear. We report a young male patient presenting with a giant lipoma in the buccal mucosa. Histopathology revealed a large area of mature fat cells consistent with conventional lipoma and an area of the mucosal lining of the lesion suggestive of morsicatio buccarum. In the present article, we emphasize the clinicopathological features and differential diagnosis of the disease. PMID:28300904
Dilek, Okan; Yilmaz, Cengiz; Gulek, Bozkurt; Akin, Mehmet Ali
Lipoma is the most common benign mesenchymal neoplasm. About 16% of lipomas arise in the head and neck region, especially in the posterior neck. Large lipomas that originate from the retropharyngeal space may cause dyspnea, dysphagia, and snoring and occasionally may lead to obstructive sleep apnea syndrome (OSAS). Herein, we report a 45-year-old male patient with OSAS caused by a giant retropharyngeal lipoma with emphasis on CT findings. PMID:28912996
Sahin, Yilmaz; Dabak, Nevzat; Selçuk, M Bekir; Bariş, Y Sancar
We retrospectively evaluated patients with intraosseous lipoma. The study included eight patients (5 males, 3 females; mean age 39 years; range 23 to 60 years) who were treated between 1997 and 2005 for intraosseous lipoma. Localizations of the lipomas were the calcaneus in six patients, proximal humerus in one patient, and proximal femur in one patient. The presenting complaints were heel pain in patients with calcaneal involvement, and shoulder pain associated with proximal humeral involvement. In one patient, detection of intraosseous lipoma in the left proximal femur was incidental during examination for right hip pain. According to the Milgram classification, five of the intraosseous lipomas were stage 1, while two calcaneal lesions and one femoral lesion were stage 2. Treatment consisted of excisional biopsy, curettage, and allografting under regional or general anesthesia. The diagnosis was confirmed histopathologically in all cases. The mean follow-up period was 28 months (range 9 to 110 months). Complaints of heel pain and shoulder pain resolved within four and five months, respectively. No infection or skin necrosis occurred at the wound site. No neurovascular complications developed during or after surgery. Radiological consolidation of the implanted bone allografts were complete by a mean of three months (range 2 to 4 months). No pathological fractures or recurrences were encountered. Treatment of intraosseous lipomas with curettage and grafting is effective in relieving pain and preventing possible pathological fractures.
S. Amarjit, Kataria; Budhiraja, Shivali; Chandramouleeswari, K.; Anita, S.
Intra–articular synovial lipomas are very rare and only few cases have been reported till now. We are reporting a rare case of a unilateral intra–articular lipoma of osteoarthritic knee joint in a 62 years old male. Patient had two episodes of sudden locking of knee joint, which resolved spontaneously. A plain X-ray showed changes which were suggestive of osteoarthritis. Clinically, patient was diagnosed as a case of loose bodies in left knee joint. An arthrotomy was performed. After a Histopathological Examination (HPE) of loose bodies, a diagnosis of an intra–articular synovial lipoma was made. Due to wide differentials and varied clinical behaviour of loose bodies, lipoma should be included in differential diagnosis of osteroarthritic patients who complain of episodic locking of knees. Intraarticular lipomas, on arthroscopic guided excision, get cured permanently, with no recurrence. The differentiation of an intra-articular lipoma from a relatively more common entity, Lipoma arborescens, has also been discussed. PMID:24086885
Magadum, Dilip; Sanadi, Appasab; Agrawal, Jiwanasha Manish; Agrawal, Manish Suresh
Lipoma is the commonest benign tumour occurring at any anatomical site where fat is present, but occurrence in the oral cavity is rare. Tongue which is totally devoid of fat cells is a rare site for lipoma. This is one such rare case of the universal tumour, presenting at the lateral margin of the tongue, for which complete tumour excision was done. Macroscopically the mass had a hard consistency and measured 3.0×2.0 cm. From microscopic examination, diagnosis of lipoma was made. Recurrence of tongue lipoma is rare. PMID:23370950
Sharma, Gaurav; Jain, Kanu; Nagpal, Archna; Baiju, Chandrababu Sudha
Lipoma is the most common tumor of mesenchymal tissues of body, but its occurrence in oral cavity is infrequent. Buccal mucosa is the most common intraoral site of lipoma followed by tongue, floor of the mouth, and buccal vestibule. The involvement of mucogingival junction is rare. We present a unique case report of oral lipoma occurring on mandibular mucogingival junction with review of literature which has emphasis on differential diagnosis. PMID:27143835
Injection lipolysis or lipodissolve is the practice of injecting phosphatidyl choline/ sodium deoxycholate (PDC/DC) compounds in the subcutaneous fat. Though this practice is being used extensively for nonsurgical contouring of body and dissolving localized collections of excess fat, it's use as a treatment modality for lipomas needs further evaluation. We present a case where this technique was used for treating a lipoma, with no recurrence after 9 months of follow up. Injection lipolysis as a treatment modality for lipomas needs to be evaluated for safety and efficacy in trials on larger population. This could prove to be a very valuable adjunct to the current practice of excision, if done by a trained person in a properly selected patient. Also the side effects and the controversies regarding this procedure have been discussed in detail in the present paper. PMID:21976907
Radl, Roman; Leithner, Andreas; Machacek, Felix; Cetin, Erdal; Koehler, Wolfgang; Koppany, Bodo; Dominkus, Martin; Windhager, Reinhard
We reviewed 29 patients with intraosseous lipoma treated between 1985 and 2002. Mean patient age was 48 (20-75) years. According to Milgram's classification, ten cases were classified as stage I, 14 as stage II, and three as stage III. All patients were initially treated by curettage. In 11 cases an additional phenolization was performed. The average follow-up was 32 (6-208) months. At the last follow-up, none had any clinical or radiological signs of recurrence. The adequate treatment of a symptomatic intraosseous lipoma is curettage and bone grafting. In the current study, phenolization showed no added benefit. An asymptomatic intraosseous lipoma without impending pathological fracture can be treated conservatively.
Bertot, Brandon; Boghani, Zain; Britz, Gavin
Both lipomas and dermoid cysts of the cerebellopontine angle are rare tumors. These tumors differ in their embryological origin but share similar features on imaging. Both of these congenital lesions can be found in the cerebellopontine angle (CPA), and symptomatic clinical presentation is dictated by the location of the lesion. This paper demonstrates a unique case in which a CPA lipoma was misidentified as a dermoid cyst, leading to surgical intervention. Further, the paper provides a literature review of CPA lipomas and dermoid cysts to aid readers in further differentiating between these two unique tumors. PMID:29399424
Peev, Igor; Spasevska, Liljana; Mirchevska, Elizabeta; Tudzarova-Gjorgova, Smilja
BACKGROUND: Lipomas are the most frequent soft -tissue tumors arising from adipose tissue. Traditionally, open surgery is a mainstay of their treatment. Recently, new treatment modalities emerge in order to decrease morbidity, to increase satisfaction rate in patents, but not to raise recurrence risk at the same time. AIM: The aim of this article is to present our experience with liposuction assisted lipoma removal in terms of efficacy, complications, risk of recurrence and patient satisfaction. METHODS: The study was prospective in which treated lipomas with vacuum suction were analyzed. Preoperative diagnosis comprised clinical exam and additional diagnostic tools as to rule out malignancy. Subcutaneous lipomas with diameter of at least 5 cm were taken into account. Tumescent liposuction technique with modification was used. RESULTS: Lipoma’s size, distribution and demographics are given. Total removal with affordable rate of complication was achieved in each case. No recurrences in 12 months follow-up period were seen. Satisfaction rate in patients was high. CONCLUSION: Liposuction assisted lipoma removal is a good alternative to open approach lipectomy and we would recommend its use in selected cases where, it might be more advantageous. However, prospective randomized controlled studies are needed in order to estimate its accurate clinical value. PMID:29104686
Medina, Carlos R; Schneider, S; Mitra, A; Spears, J; Mitra, A
Lipomas may be located in all parts of the body and may be confused clinically with other soft tissue masses. They infrequently occur in the head and neck. A large neck mass (greater than 10 cm) with a rapid growth rate should raise concerns about a possible malignancy. Failure to distinguish a liposarcoma from a lipoma may represent a medicolegal pitfall. Surgical excision of a lipoma is often used as the definitive treatment modality, and alternative treatments described for lipomas range from liposuction to steroid injections. In the present study, a 60-year-old man who presented with a rapidly enlarging submental mass is described. A 15 cm × 12 cm mass was successfully removed. The surgery produced excellent cosmetic results and no functional impairment. An integrated review of the literature regarding etiology, epidemiology, diagnostic and treatment modalities of submental lipomas follows. PMID:19554181
Kamran, Farooque; Kavin, Khatri; Vijay, Sharma; Shivanand, Gamangatti
Lipoma arborescens is villous proliferation of synovium and is often unilateral in the absence of any systemic disease. We report a case of 54 year old male presenting with bilateral lipoma arborescens associated with osteoarthritis. The diagnosis is often difficult due to similar symptomatology of lipoma arborescens and osteoarthritis.
Lahrach, Kamal; el Kadi, Khalid Ibn; Mezzani, Amine; Marzouki, Amine; Boutayeb, Fawzi
Lipomas are common benign neoplasms consisting of mature fatty tissue. They are usually of roundish or ovoid shape and are situated in a single anatomical region. They most frequently occur on the back and in the extremities. Most lipomas are subcutaneous and require no imaging evaluation. When deep, large and unusual in location, MRI can identify and localise these tumours and is the best exploration to differentiate lipoma and lipo-sarcoma. We describe a case of a patient with an intramuscular lipoma of the biceps brachii. PMID:24062869
Hayward, William A.; Sibbitt, Randy R.; Muruganandam, Maheswari; Rolle, Noelle A.; Fangtham, Monthida; Suzanne Emil, N.; Kettwich, Scarlett K.
Objective: Benign subcutaneous lipomas can cause musculoskeletal pain and nerve impingement. We hypothesized that the potent lipolytic and atrophic effect of 40mg/mL triamcinolone acetonide would atrophy symptomatic lipomas so surgical excision could be avoided. Design: This was a cohort study. Setting: This study took place in an ultrasound injection clinic. Participants: Eight subjects with painful symptomatic lipoma were included. Measurements: Preprocedurally, the margins of the lipomas were palpated and marked with ink, then measured in centimeters (cm). Small lipomas (1–3cm) were injected with 40mg triamcinolone acetonide, while large lipomas (4–6cm) were injected with 80mg of triamcinolone acetonide. The subjects were reassessed at a four-month follow-up appointment and then again at one year and two years after the procedure. Results: Pre-injection, all eight subjects had symptoms related to impingement or pain with compression of the lipoma. At four months post-injection, none of the patients had symptoms attributable to the lipoma (p<0.001). The mean lipoma palpable dimension was 5.0±1.2cm prior to the injection and was 2.0±1.1cm at four months after the injection, with a significant mean 3.0±0.3cm (60%) reduction in lipoma dimensions (p<0.001). Two subjects demonstrated some mild hypopigmentation of the skin at four months post-injection. Within two years, three lipomas had symptomatically recurred, one of which was removed surgically and the two of which were reinjected. There were no infections or other serious adverse reactions that occurred. Conclusions: For individuals with painful subcutaneous lipoma, intralesional injection of 40mg/mL of triamcinolone acetonide is an effective and safe alternative to surgical excision or injection of sclerosing agents and should be considered as a reasonable therapeutic alternative in select patients. PMID:29785238
Sakhadeo, Uma; Mundhe, Rajesh; DeSouza, Maria A; Chinoy, Roshan F
Pleomorphic lipoma is a relatively rare adipocytic neoplasm, occurring predominantly in elderly males in the subcutaneous tissues of the neck or shoulder. To the best of our knowledge, only five cases have been reported in which the lesion was intramuscular. We hereby report a case of a 60-year-old female patient, presenting with an intramuscular, posterior shoulder mass. The aspirate showed a giant cell-rich lesion, admixed with short, plump-looking, spindly cells. There was no overt evidence of malignancy; however, the cell cytology was sufficiently atypical to warrant concern. Subsequent excision revealed a classical pleomorphic lipoma on histology with no evidence of malignancy. CD34 staining by immunohistochemistry further supported the diagnosis. Differential diagnosis and the cytological diagnostic pitfalls of pleomorphic lipomas have been discussed with a review of the literature. PMID:26729985
Sakhadeo, Uma; Mundhe, Rajesh; DeSouza, Maria A; Chinoy, Roshan F
Pleomorphic lipoma is a relatively rare adipocytic neoplasm, occurring predominantly in elderly males in the subcutaneous tissues of the neck or shoulder. To the best of our knowledge, only five cases have been reported in which the lesion was intramuscular. We hereby report a case of a 60-year-old female patient, presenting with an intramuscular, posterior shoulder mass. The aspirate showed a giant cell-rich lesion, admixed with short, plump-looking, spindly cells. There was no overt evidence of malignancy; however, the cell cytology was sufficiently atypical to warrant concern. Subsequent excision revealed a classical pleomorphic lipoma on histology with no evidence of malignancy. CD34 staining by immunohistochemistry further supported the diagnosis. Differential diagnosis and the cytological diagnostic pitfalls of pleomorphic lipomas have been discussed with a review of the literature.
Andrei, L S; Andrei, A C; Usurelu, D L; Puscasu, L I; Dima, C; Preda, E; Lupescu, I; Herlea, V; Popescu, I
The lipoma of the colon is a benign and rare tumor. Most lipomas are asymptomatic, their discovery being fortuitous. The diagnosis is ussualy easy by colonoscopy associated with biopsies. The abdominal CT scan also has its role in the diagnostic process and in the assesment of the tumoral extension.The treatment depends essentially on the clinical picture, on the size and location of the lipoma and involves endoscopic or surgical excision. We present the case of a 56 years old woman in which a random colonoscopic and than tomographic diagnosis of a sigmoidian lipoma was made 2 years ago when the patient presented with different symptoms, the submucosal lipoma being small sized at the time; the surgical treatment(sigmoidectomy including the tumor) was currently indicated by the sub-occlusive syndrome and haematochezia, due to the intraluminal proliferation of the tumor. Celsius.
Elbardouni, A; Kharmaz, M; Salah Berrada, M; Mahfoud, M; Elyaacoubi, M
The purpose of this study is to determine if giant size is of bad prognosis in deep lipomas of the upper extremity. We report a retrospective study of 13 patients with deep-seated lipomas of the upper extremity treated during the period from April 1997 to April 2008. We evaluated the clinical and radiological characteristics, treatment and evolution profile of these patients. There were 10 women and three men, with an average age of 53 years (range 30-79 years). Seven of these lipomas were in the arm, one in the shoulder, and five in the forearm. Six lipomas were intramuscular, six intermuscular (three of them being attached to bone and labelled parosteal lipoma) and one epivaginal lipoma of the flexor tendon sheath. All patients presented a progressive slow-growing mass that was associated with radial paralysis in one case and carpal tunnel syndrome in one case. Plain radiographs showed a radiolucent soft-tissue image in all cases and an associated osteochondroma in one parosteal lipoma. Computer tomography (CT) or magnetic resonance imaging (MRI) suggested the lipomatous nature and benign characteristics of these deep lipomas that were giant in all cases (mean size: 7 cm). Lipoma marginal excision was performed and histopathological examination demonstrated features consistent with a benign lipoma. There was good function and no clinical recurrence was observed after a mean follow-up of three years. Giant deep-seated lipomas of the upper extremity are uncommon and can be intermuscular or intramuscular. A painless soft-tissue mass is the most frequent chief complaint. MRI with fat suppression suggests the diagnosis and studies the extension of deep lipoma. Marginal excision is the treatment of choice and histopathology eliminates diagnosis of well-differentiated liposarcoma. Appropriate evaluation of deep lipoma is to rule out malignancy by systematically performing MRI and biopsy. In contrast to deep-seated lipomas of the lower extremity or the retroperitoneal
Hashimoto, Kazuhiko; Nishimura, Shunji; Kakinoki, Ryosuke; Akagi, Masao
Intraosseous lipomas occurring in the bones of the upper limbs are very rare. The tumor often occurs in long bones, especially the calcaneus. Usually patients with intraosseous lipomas present with mild clinical features. Thus far, bone destruction caused by the tumor has not been reported. The present study reported a case of an aggressive intraosseous lipoma that developed in the intermediate phalanges of the thumb. This is an extremely rare case with extraosseous development, which occurred at a rare site. A 47-year old woman presented to us with right thumb pain and swelling. Computed tomography and magnetic resonance imaging revealed a mass extending to the outer edge of the phalangeal bone. The patient was treated with surgery the remove the tumor. Artificial bone was used to refill the area due to the lack of cancellous bone. During the clinical management of lipomas, it is important to consider that intraosseous lipomas may spread out of the bone; moreover, the tumor should be removed immediately to help reduce the possibility of bone destruction.
Wolfswinkel, Erik M; Imahiyerobo, Thomas A; McComb, J Gordon; Sanchez-Lara, Pedro A; Urata, Mark M
Intraosseous lipomas are almost exclusively seen in the long bones. Presence in the craniofacial skeleton is extremely rare. A 7-year-old male is presented with a marked craniofacial deformation from a bony tumor containing an intraosseous lipoma. This finding established a clinical diagnosis of Proteus syndrome. Given the size of the tumor, producing an extensive deformity, three-dimensional modeling was used to generate a three-dimensional printed implant. The process to achieve a successful outcome is herein described.
Kogure, Kazunari; Yamazaki, Michio; Tamaki, Tomonori; Node, Yoji; Morita, Akio
A lipoma is a slow-growing, benign tumor and is usually asymptomatic; hence, surgical intervention can often be avoided in patients with these tumors in the cervical and cranial area. Lipomas arise most commonly in the subcutaneous fat, but occasionally in muscle tissue. Intramuscular lipomas in the cervico-cranial area have rarely been reported. We describe here a patient with a large intramuscular lipoma in the deep cervical tissue. The patient experienced troublesome pain in the neck and occipital area, and surgical treatment was therefore suggested. Particularly in the cervical area, intramuscular lipomas sometimes invade the surrounding muscles and tissue layers and develop into an irregular mass, despite being benign. In addition, the cervical area has one of the most complex muscle structures. Nevertheless, surgical management of intramuscular lipoma in the cervical and cranial area is sometimes indicated, for example, in patients with clinical symptoms or masses with a tendency to grow large.
Sachdeva, Mandi P; Goldblum, John R; Rubin, Brian P; Billings, Steven D
Pleomorphic lipomas are benign tumors that most commonly present as subcutaneous masses in the head and neck, shoulder, or back region of middle-aged to elderly men. They are related to spindle cell lipomas based on shared cytogenetic aberrations and histologic features. When little or no fat is present, the diagnosis can be challenging. A review of 38 pleomorphic lipomas seen in consultation revealed 7 cases in which fat was present in reduced (<5%) amounts (n = 5) or absent (n = 2). Six of 7 cases were from men with a mean age of 59 years. Excluding 1 case where the site was not specified, they all presented as solitary well-circumscribed subcutaneous masses in the head and neck (n = 3) or shoulder (n = 2) region. The seventh case was an intradermal tumor from the nose of a 48-year-old woman. All displayed pleomorphic and multinucleated floret cells interspersed among bland spindle cells and ropey collagen. They were diffusely immunoreactive for CD34. Referring diagnoses, when provided, included myxofibrosarcoma, giant cell fibroblastoma, and granulomatous rosacea for the tumor from the nose; none considered pleomorphic lipomas. When fat is absent or present in reduced amounts, clinical context and identification of classic nonlipogenic components are essential for the diagnosis of pleomorphic lipomas.
Han, Hyun Ho; Kim, Hak Soo; Rhie, Jong Won; Moon, Suk Ho
Occipital neuralgia (ON) is commonly characterized by a neuralgiform headache accompanied by a paroxysmal burning sensation in the dermatome area of the greater, lesser, or third occipital nerve. The authors report a rare case of ON caused by an intramuscular lipoma originating from the lesser occipital nerve.A 52-year-old man presented with sharp pain in the left postauricular area with a 3 × 2-cm palpable mass. Computed tomography revealed a mass suspiciously resembling an intramuscular lipoma within splenius muscle. In the operation field, a protruding mass causing stretching of the lesser occipital nerve was found. After complete resection, the neuralgiform headache symptom had resolved and the intramuscular lipoma was confirmed through histopathology.Previous studies on the causes of ON have reported that variation in normal anatomic structures results in nerve compression. Occipital neuralgia, however, caused by intramuscular lipomas in splenius muscles have not been previously reported, and the dramatic resolution following surgery makes it an interesting case worth reporting.
Tom, Osundwa; Tom, Ochola
Lipomas are benign neoplasms arising from adipose tissue. Oral lipomas have been reported in the buccal mucosa, tongue, floor of the mouth and lips; however, the case of a lipoma occurring as an antecedent lesion to recurrent sialadenitis is hitherto unreported in the English literature. We report the case of an intraoral lipoma occurring with signs and symptoms of recurrent sialadenitis in a 15-year-old Kenyan girl of Kikuyu descent. The lipoma was antecedent leading to partial obstruction and stasis related to the right Stensen's duct culminating in recurrent sialadenitis of the ipsilateral parotid gland. Due to the slow growth, softness, diffuse nature and lack of pain, lipomas may exist below the diagnostic radar, hence, the need to have a high index of suspicion and utilize diagnostic aids as necessary. In this case magnetic resonance imaging was key in establishing the existence of the lipoma. The lipoma was excised with resolution of the recurrent sialadenitis. The purpose of this report is to present the diagnostic challenge emanating from the pressure effects of an intraoral soft tissue lipoma masquerading as recurrent sialadenitis with a view to improving on patient care through sensitization.
Waśkowska, Jadwiga; Wójcik, Sylwia; Koszowski, Rafał; Drozdzowska, Bogna
Abstract Lipoma is a benign tumour originating from mature adipose tissue. It can occur in any place in the body where adipose tissue is located. Intraosseous lipoma is a very rare bone tumour. The authors present an infrequent case involving intraosseous lipoma of the mandible in a 32-year old man and provide a review of case studies documented earlier in the literature. PMID:28401200
Intraosseous lipoma is a rare benign bone tumor that has been reported to occur in the calcaneus and long bones. The etiology of intraosseous lipoma is unknown, although several theories have been proposed. The majority of the cases of intraosseous calcaneal lipoma reported in the literature were localized in the anterior portion of the calcaneus and were treated by curettage and bone grafting. However, for larger lipomas, no specific treatment protocol has been developed to date. We herein present a rare case involving a large intraosseous lipoma of the calcaneus in a 36-year-old man following hindfoot trauma. The lesion was treated by decortication followed by bone grafting and internal fixation, a surgical approach that, to the best of our knowledge, has not been previously described in the literature. PMID:29181183
Venkateswarlu, Meduri; Geetha, Paramkusam; Srikanth, Mandadi
One type of soft tissue lesions of the oral cavity is lipoma, which is a kind of benign tumor composed of mature lipid cells. Although the lipoma presents as one of the most common mesenchymal neoplasms, most tend to develop on the trunk and proximal portions of the extremities. However, lipomas in the oral and maxillofacial region are much less frequent. Here we present a case of an intraoral lipoma in a six year-old child. PMID:21449215
Inchingolo, Francesco; Tatullo, Marco; Abenavoli, Fabio M.; Marrelli, Massimo; Inchingolo, Alessio D.; Corelli, Roberto; Servili, Andrea; Inchingolo, Angelo M.; Dipalma, Gianna
The presence of tattoos on the skin of people of all ages is on the rise. On occasion, the tattoo is in close proximity to an area which has to undergo a surgical operation, therefore why not using the tattoo itself to cover the cicatrix? The case we treated was that of a 39 year old female who, for a couple of years, had a large lipoma on her right shoulder which she never treated because it was beneath a large tattoo. During the surgical treatment of the lipoma, we followed the exact lines of the tattoo itself thus obtaining precise access for lipoma removal which minimized visible post operative cicatrix while maintaining the original tattoo design. No similar case was found in literature. PMID:21103075
Hatayama, T; Sakoda, K; Tokuda, Y; Uozumi, T
A rare case of lumbo-sacral lipoma in an adult case is reported. A 55-year-old male was admitted to the Department of Neurosurgery, Mazda Hospital, after a history of one year of urinary incontinence. Neurologically, no motor or sensory disturbance of the lower extremities was found in this patient. MRI showed a mass with high signal intensity on T2-weighted image, located between L3 to S2 vertebral segments. Metrizamide-CT scan demonstrated the outline of this hypodense mass at the same location as shown on MRI image. A L3 through L5 laminectomy was performed and the tumor was subtotally removed. Microscopic examination revealed that the tumor mass was made up of mature lipoma cells. Postoperative course of the patient was uneventful. The urinary incontinence was improved slightly. No motor or sensory deficit was found. We thought that MRI was useful for the correct diagnosis of lumbosacral lipoma. And it is best managed by operative removal of the tumor as early as possible after it is diagnosed.
Dean, Alicia; Garcia, Blas; Alamillos, Francisco; Roldan, Elisa; Blanco, Antonio
Background Lipoma is the most common benign tumour of the human body, being intraosseous involvement very rare. Just 1 to 4% of all cases of lipoma are located in the oral cavity, only 0.1% being intraosseous. The jaw is its most uncommon bone location. Etiology of intraosseous lipoma (IOL) is unknown, although several theories have been proposed. Usually asymptomatic, the symptoms, when present, will depend on its location and size. Its origin may be intraosseous or juxtacortical. A biopsy is essential for diagnosis, and definitive treatment involves resection or curettage of the lesion. The aim of this paper is to present a new case of intramedullary intraosseous lipoma of the mandible with involvement of the left mandibular ramus and condylar neck. Material and Methods A case of intramedullary intraosseous lipoma (IOL) on the left mandibular ramus and condyle is presented. No history of trauma in temporomandibular joint existed. The radiology showed a radiolucent multi-lobulated lesion with values of attenuation in the range of fat. Curettage is performed and the histopathology showed a conglomerate of adipocytes without trabeculae, calcifications or atypia. Results According to the bibliography 24 cases of mandibular IOL have been described. This is the second reported case of condylar involvement and the first with cortical expansion. Conclusions Lipoma intraosseous is a very rare benign bone neoplasm. Histology is required for the differential diagnosis from other radiolucent lesions. The IOL treatment is the curettage with a good prognosis, although malignant transformation to liposarcoma has been reported in other locations. It is a disease with a difficult differential diagnosis, therefore the publication of new cases is important. Key words:Intraosseous lipoma, lipoma, jaw tumour, condylar tumour. PMID:28298998
Bodner, Lipa; Shaco-Levy, Ruthy
Lipoma is a very common soft tissue neoplasm, but only infrequently found in the oral region. Intramuscular lipoma (IML) is a relatively common variant of lipoma. The most common site for IML is the large muscles of the extremities, and it is quite rare in the oral cavity. A case of IML affecting the floor of the mouth/tongue of a 42-year-old female is described. The patient presented with a 4 cm diameter yellow mass in the right side of the sublingual area. Axial and coronal magnetic resonance imaging demonstrated its infiltrating nature that can be distinguished from the ordinary well-encapsulated lesion. The lesion was excised with adequate surgical margins. Histopathologically, the lesion was composed of mature adipose tissue that infiltrated the muscle in a diffuse manner. No lipoblasts, atypical cells, or high mitotic index were found. There was no evidence of recurrence two years postoperatively. Review of the literature yielded that IML occurring in the sublingual region is extremely rare.
Gaucher, Sonia; Maladry, David; Silitra, Ana Maria; Documet, David; Philippe, Henri-Jean
Subcutaneous lipomas are very common tumors. We report our experience of treatment by liposuction in carefully selected patients, initially referred for conventional surgical excision. © 2017 Wiley Periodicals, Inc.
Bechara, Falk G; Sand, Michael; Hoffmann, Klaus; Sand, Daniel; Altmeyer, Peter; Stücker, Markus
Injections with Lipostabil, a phosphatidylcholine (PDC) containing substance, have become a popular technique to treat localized fat accumulation and lipomas for aesthetic reasons. Despite its frequent use, the mechanism of action of PDC and histological changes of treated fat tissue still remain unclear. To investigate the histological changes of lipomas after treatment with PDC. In all, fourteen lipomas (n = 14) in five patients presenting with multiple lipomas were treated with intralesional injections of PDC (Lipostabil, Nettermann, Germany). Histological changes with immunohistochemical analysis of the inflammatory process were evaluated 4, 10, 24, 48 h, 10 days, 30 days and 60 days after lipolysis. Between 4 and 48 h after injection, histology shows a lobular neutrophilic infiltrate with partially destroyed fat cells. At day 10 the inflammatory process is accompanied by an infiltration of T-lymphocytes. After 60 days formation of macrophages with foam cells are visible, accompanied by thickened septa and capsula. Lipolysis with PDC results in a distinct inflammatory reaction of affected fat tissue, similar to factitial panniculitis. Early destruction of fat cells may suggest the involvement of detergent or osmotic mechanisms in the process.
Basados en la experiencia de 82 casos; en 5% se observaron anomalías pélvicas asociadas. En los menores de 3 años el motivo de consulta (85%) fue la tumoración. En los mayores de 3 años (42%) tenía problemas neurológicos. Solo el 24% preocupados por la tumoración. El objetivo de la cirugía es desanclar la médula y no remover la totalidad del lipoma. El lipoma de filum es el que es mas simple para operar. Aún cuando la escuela francesa propone operar solamente cuando hay síntomas favorezco cirugía preventiva. Favorezco una segunda cirugía si hay signos de anclaje postoperatorio, aún cuando observamos empeoramiento postoperatorio motor en 2.5% de los operados y urológico a largo plazo en 6% de los operados. PMID:24791218
Nigri, Giuseppe; Dente, Mario; Valabrega, Stefano; Beccaria, Giacomo; Aurello, Paolo; D'Angelo, Francesco; Di Marzo, Francesco; Ramacciato, Giovanni
Introduction Lipoma is the most frequent benign tumor of the soft tissue. This lesion is often asymptomatic except in cases of enormous masses compressing nervous-vascular structures. Although the diagnosis is mostly clinical, imaging tools are useful to confirm the adipose nature of the lesion and to define its anatomic border. Sometimes, lipomas may be the result of a previous trauma, such as in this patient. Case presentation A 45-year-old man presented at our institution with a giant hard firm mass in the upper external quadrant of the right buttock disclosed after a weight loss diet. Subsequent magnetic resonance imaging showed a giant adipose mass developed beneath the large gluteal muscle and among the fibers of the medium and small gluteal muscles. When questioned on his medical history, the patient reported a blunt trauma of the lower back 14 years earlier. He underwent surgery and histological examination confirmed a giant lipoma. Conclusion Lipomas might result from a previous trauma. It is hypothesized that the trigger mechanism is activated by cytokine and growth factors released after the trauma. We herein present an exceptional case of a giant post-traumatic lipoma which caused a painful compression on the right sciatic nerve. PMID:18826615
de Vreeze, Ronald S. A.; van Coevorden, Frits; Boerrigter, Lucie; Nederlof, Petra M.; Haas, Rick L.; Bras, Johannes; Rosenwald, Andreas; Mentzel, Thomas; de Jong, Daphne
Aims. Chondroid lipoma (CL) is a benign tumor that mimics a variety of soft tissue tumors and is characterized by translocation t(11;16). Here, we analyze CL and its histological mimics. Methods. CL (n = 4) was compared to a variety of histological mimics (n = 83) for morphological aspects and immunohistochemical features including cyclinD1(CCND1). Using FISH analysis, CCND1 and FUS were investigated as potential translocation partners. Results. All CLs were strongly positive for CCND1. One of 4 myoepitheliomas, CCND1, was positive. In well-differentiated lipomatous tumors and in chondrosarcomas, CCND1 was frequently expressed, but all myxoid liposarcomas were negative. FISH analysis did not give support for direct involvement of CCND1 and FUS as translocation partners. Conclusions. Chondroid lipoma is extremely rare and has several and more prevalent histological mimics. The differential diagnosis of chondroid lipomas can be unraveled using immunohistochemical and molecular support. PMID:21559269
LIU, DA-REN; LI, CHAO; CHEN, LI
Intermuscular lipomas are rare soft tissue tumors of mesenchymal origin. They are closely correlated with other benign and malign mesenchymal tumors in clinical presentation and imaging, causing problems in diagnosis and treatment. This study examined a rare giant intermuscular lipoma of the hip and its management, allowing clinicians to become familiar with this lesion. Furthermore, the clinical data of 13 patients with pathologically confirmed giant intermuscular lipomas (1 case treated by the authors, the remaining 12 cases reported in the Chinese literature during the period from January, 1992 to May, 2012) were also reviewed and analyzed. Based on the review, intermuscular lipomas were found to be more common in males and usually presented with an asymptomatic mass, with an average patient age of 39.7 years (range, 11–70), while symptom duration was between 1 month and 10 years. The most common tumor origin sites were the thigh and forearm and the option of treatment was surgical excision. The present study showed that it is crucial for the surgeon to consider infiltrating lipomas when dealing with deep soft tissue masses, while complete removal of the lesion was vital to avoid recurrence. PMID:24649177
Khatib, Yasmeen; Patel, Richa D; Dande, Madhura
Pure uterine lipoma is a rare entity with only a few cases having been reported in the literature. They usually develop in postmenopausal woman and are mistaken for leiomyomas both clinically and on ultrasound examination. Magnetic resonance imaging (MRI) is the best modality for its preoperative diagnosis. Uterine lipoma has been reported in association with other lesions like endometrial carcinoma, cervical carcinoma and struma ovarii. We present a case of pure lipoma of the uterus with a coincidental benign brenners tumor of the ovary in a 60-year-old female. Patient presented with pain in the abdomen and a preoperative diagnosis of leiomyoma was made based on ultrasonography findings. Gross examination revealed a fatty tumor with a nodule in the right ovary. Microscopy confirmed the presence of pure uterine lipoma with a co-existent brenners tumor of the ovary. To the best of our knowledge this is the first case of uterine lipoma to be reported in association with ovarian brenners tumor.
Yamamichi, Gaku; Nakata, Wataru; Yamamoto, Akinaru; Tsujimura, Go; Tsujimoto, Yuichi; Nin, Mikio; Tsujihata, Masao
Liposarcoma of the spermatic cord is a rare disease and often mistakenly diagnosed as inguinal hernia, hydrocele, and lipoma. We report the case of a 58-year-old man who presented with persistent discomfort and swelling on the left inguinal region. He was diagnosed with left scrotum lipoma when he was 12 years old. He underwent high orchiectomy and wide resection of the inguinal tumor. Histopathological examination revealed a well-differentiated liposarcoma of the spermatic cord with negative resection margin and scrotum lipoma. To our knowledge, this is the first report of liposarcoma of the spermatic cord with scrotum lipoma in English literature.
Mather, Quang; Priego, Jonathon; Ward, Kristi; Kundan, Verma; Tran, Dat; Dwivedi, Alok; Bryan, Brad A
Benign lipomas and well-differentiated liposarcomas share many histological and molecular features. Due to their similarities, patients with these lipomatous tumors are misdiagnosed up to 40% of the time following radiological detection, up to 17% of the time following histological examination, and in as many as 15% of cases following fluorescent in situ hybridization for chromosomal anomalies. Incorrect classification of these two tumor types leads to increased costs to the patient and delayed accurate diagnoses. In this study, we used genomics analysis to identify several genes whose mRNA expression patterns were significantly altered between lipomas and well-differentiated liposarcomas. We confirmed our findings at the protein level using a panel of 30 human lipomatous tumors, revealing that C4BPB, class II, major histocompatibility complex, CIITA, EPHB2, HOXB7, GLS2, RBBP5, and regulator of RGS2 protein levels were increased in well-differentiated liposarcomas compared to lipomas. We developed a multi-protein model of these markers to increase discriminatory ability, finding the combined expression model with CIITA and RGS2 provided a high ability (AUC=0.93) to differentiate between lipomas and well-differentiated liposarcomas with sensitivity at 83.3% and specificity at 90.9%.
Baonerkar, Hemant A.; Vora, Meena; Sorathia, Rakesh; Shinde, Swapnil
Lipoma is the most common tumor of the human body, but their presences in the oral cavity are very rare. Reported cases of lipoma of tongue in English literature are very few. Here, we report a case of lipoma of tongue in 63-year-old male patient, with its clinical presentation, the histological picture, classification, and brief review of the literature. PMID:26752882
Introduction Lipomas are benign tumors which may appear in almost any human organ. Their diagnosis rate in the hand region is not known. Case Presentation We present the case of a 63-year-old Greek Caucasian woman with a giant lipoma of the hand and palm which was not initially diagnosed. After repeated surgical decompression of the carpal tunnel the patient was referred with persisting symptoms of median and ulnar nerve compression and a prominent mass of her left palm and thenar eminence. Clinical examination, magnetic resonance imaging, nerve conduction study and biopsy, revealed a giant lipoma in the deep palmar space (8.0 × 4.0 × 3.75 cm), which was also infiltrating the carpal tunnel. She had already undergone two operations for carpal tunnel syndrome with no relief of her symptoms and she also ended up with a severed flexor pollicis longus tendon. Definitive treatment was performed by marginal resection of the lipoma and restoration of the flexor pollicis longus with an intercalated graft harvested from the palmaris longus. Thirty months after surgery the patient had a fully functional hand without any neurological deficit. Conclusion Not all lipomas of the wrist and hand are diagnosed. Our report tries to emphasize the hidden danger of lipomas in cases with carpal tunnel symptoms. The need for a high index of suspicion in conjunction with good clinical evaluation and the use of appropriate investigative studies is mandatory in order to avoid unnecessary operations and complications. Marginal excision of these tumors is restorative. PMID:22085433
Bridge, J A; Roberts, C A; Degenhardt, J; Walker, C; Lackner, R; Linder, J
Cytogenetic analysis of a primary lipoma of the lung removed from a 56-year-old woman revealed the presence of a supernumerary marker chromosome in all metaphase cells analyzed; namely, 47,XX,+mar. To the best of our knowledge, this is the first cytogenetic description of a primary lipoma of lung. Genetic analysis of intramuscular lipoma, atypical lipoma, and well-differentiated liposarcoma have revealed the presence of one to three supernumerary ring or giant marker chromosomes composed of chromosome 12 segments as the characteristic anomaly. The marker chromosome in the present case was shown to be composed entirely of chromosome 12 material by subsequent analysis with a chromosome 12-specific paint probe and fluorescence in situ hybridization. Thus, analogous to intramuscular lipoma, atypical lipoma, and well-differentiated liposarcoma, extra chromosome 12 material is present. These findings support a pathogenetic relationship between this lipoma of unusual anatomic location and common adipose tissue tumors.
Ozdemır, Ozhan; Sarı, Mustafa Erkan; Sakar, Vefa Selimova; Nebıoglu, Mehriban; Atalay, Cemal Resat
Primary tumors of round ligament are rare, and when found are typically leiomyomas. Endometrioma, and mesothelial cysts are the benign lesions recognized as involving the round ligament. We report a case of lipoma of the round ligament in a 48-year-old premenopausal woman. Round ligament lipoma on the intraperitoneal portion (abdominal site) is very rare and it should be kept in the differential diagnosis of ovarian and abdominal masses.
Loriaux, Daniel B; Adogwa, Owoicho; Gottfried, Oren N
A true adult spinal lipoma is an exceedingly rare cause of lumbar compression neuropathy. Only 5 cases of true extradural intraforaminal lipomas have been documented in the medical literature. The diagnostic criteria and treatment guidelines for this specific lipoma have yet to be established. This report features 3 histologically confirmed cases of extradural intraforaminal spinal lipomas that recently presented to the authors' practice. In addition, the literature was surveyed to include the 5 previously reported cases of true adult extradural intraforaminal spinal lipomas. The consistency in presentation, response to surgical intervention, and postoperative recovery in these 8 cases supports surgical intervention at the time of diagnosis. The authors' findings support elevated clinical suspicion, efficient diagnosis based on MRI, and early surgical intervention for this rare pathological entity. All cases presented in this report were symptomatic and occurred in the absence of other significant pathologies such as general spinal epidural lipomatosis, intradural lesions, tethering, or severe degenerative stenosis or herniated discs. The clinical, neuroradiological, and histological findings characteristic of a true adult extradural intraforaminal lipoma are emphasized to differentiate this lesion from the more common etiologies for lumbar compression neuropathy. Heightened awareness and clinical suspicion for the focal, foraminal spinal lipoma as a cause of radiculopathy symptoms will enable more efficient diagnosis and treatment.
López-Blanco, Roberto; Rojo-Sebastián, Ana; Torregrosa-Martínez, Maria Henedina; Blazquez, Alberto
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m.8344A>G mutation in MT-TK gene, related MERRF (myoclonic epilepsy with ragged-red fibre) phenotype and m.14484T>C mutation in the MT-ND6 gene responsible for Leber hereditary optic neuropathy phenotype. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Bagherzadeh Saba, Reza; Sadeghi, Amir; Rad, Neda; Safari, Mohammad Taghi; Barzegar, Farnoush
Lipomas of the colon are relatively rare benign soft tissue tumors derived from mature adipocytes of mesenchymatic origin. During colonoscopy, surgery or autopsy they are generally discovered incidentally. Most cases are asymptomatic, with a small tumor size, and do not need any special treatment. However, in the cases with larger in size of tumor some symptoms such as anemia, abdominal pain, constipation, diarrhea, bleeding, or intussusception may be presented. We reported a 47-year-old woman with colonic intussusception in the descending colon caused by colonic lipoma and diagnosed after surgical exploration for obstructive colonic mass. PMID:28224035
Zhang, Feng; Xie, Zhi-jian; Ge, Wei-li; Li, Sheng-lai; Li, Yi-ning
A lipoma is a benign tumor which may occur in the adipose tissue of any part of the body. The tumor is most commonly found on the trunk and extremities. Although it is the most common tumor of mesenchymal origin in the head and neck, its incidence is relatively rare. Lipoma of the head and neck is usually located in subcutaneous tissue. It is rarely deep seated with osseous involvement and rarely occurs in children, especially below the age of 10. The case of a painless mass of one-year history in the right parotidomasseteric region of an eight-year-old boy is presented. The mass was revealed to be a classical lipoma in the masseteric space, possibly causing hyperostosis of the angle of the mandible. After removal of the mass and a spherical protuberance in the angle of the mandible, the boy recovered and no recurrence was noted after one-year follow-up. Hyperostosis is a rare phenomenon with lipoma. In this case, the hypothesis was posed that the tensile force produced by the lipoma in the masseteric space possibly caused hyperostosis of the angle of the mandible. To the authors' knowledge, a classical lipoma arising from the deep fascial space resulting in osseous change has not been described in the literature before.
Dassanayake, S U B; Dinamithra, N P; Nawarathne, N M M
Symptomatic presentations of colonic lipomas are very rare in clinical practice, and may mimic colonic malignancy. The likelihood of presenting symptoms has been shown to depend on the size of the lesion. We describe the case of a 72-year-old Sinhalese man presenting with worsening mucoid diarrhea who was subsequently diagnosed to have a lipoma of the sigmoid colon. His disease was successfully managed with endoscopic resection. Confidently establishing the rare diagnosis of a colonic lipoma usually requires a combination of endoscopic, radiological, and histological evaluation, and is therefore very challenging. With the advancement of endoscopic procedures, endoscopic resection is widely practiced as the definitive management of these cases.
Thakur, Shruti; Sood, Ram Gopal; Jhobta, Anupam; Makhaik, Sushma; Thakur, Charusmita
Intracranial lipomas are congenital malformations. These uncommon lesions have an incidence of 0.1 to 1.7% of all intracranial tumors. Most cases are located at midline and 5% are along the sylvian fissures. If symptomatic, seizures are the most common symptom. These tumors are slow growing and have favorable outcome. We report a case of a 25-year-old man whose CT and MRI revealed a lesion in right sylvian fissure suggesting a lipoma with abnormal vasculature and overlying cortical dysplasia.
Schumann, Stefan; Lauche, Romy; Hohmann, Claudia; Zirbes, Thomas; Dobos, Gustav; Saha, Felix Joyonto
The cupping massage is a form of bloodless cupping. This type of cupping is particularly used to treat muscular tension and musculoskeletal pain, such as chronic neck pain; however the data records on mechanisms and potential side effects are not satisfactory. In a study on the effectiveness of cupping massage in patients with chronic neck pain, one patient showed a formation of a lipoma in the cupping area after the first treatment session. Because of the short time interval between therapy and development of the lipoma, a primary cause is not realistic. This adverse event has not been described in the literature before, and the present report describes the case in summary.
Choi, Jong Yun; Seo, Bommie F.; Oh, Deuk Young; Ahn, Sang Tae; Rhie, Jong Won
Introduction. Intramuscular lipoma is a very rare form of lipoma, known to be categorized as an infiltrating lipoma due to its tendencies to infiltrate the muscle or the synovium. Contrary to other subcutaneous lipomas, even after surgical removal, the rate of local recurrence ranges at a high rate from 50∼80% and differential diagnosis with liposarcoma is very difficult. Patients and Methods. A retrospective chart review was conducted for a total of 27 patients. Before performing a surgery based on the types of mass, a radiologic imaging study was performed. An intraoperative frozen biopsy was performed on every patient and the results were compared. The progress was monitored every 3 to 6 months for recurrence or struggles with rehabilitation. Results. There were 13 male and 14 female patients with an average age of 54.6. The average tumor size was 8.2 cm (1.1 cm∼31.6 cm). Excision was performed using a wide excision. All 27 individuals were initially diagnosed as intramuscular lipoma; however, 1 of the patients was rediagnosed as liposarcoma in the final checkup. The patients had an average of 3 years and 1 month of follow-up and did not suffer recurrences. Conclusion. Thus, it is essential that a frozen biopsy is performed during the surgery in order to identify its malignancy. And a wide excision like malignant tumor operation is a principle of treatment. PMID:25574469
Introduction Lipoma is a benign soft tissue neoplasm that may contain mesenchymal elements, as a result of metaplastic process. Ossification in benign and malignant soft tissue tumors can also manifest due to metaplastic process. Case presentation A 45 year old woman presented with a large thigh mass. The mass was developed one and a half year ago which insidiously increased in size and was associated with movement restriction. Radiological findings revealed soft tissue neoplasm on antero-medial aspect of thigh encircling the femur and displacing adjacent muscles. Fine trabeculations were seen in neoplasm suggestive of ossification. Excision of the mass was performed and histopathology revealed adipocytes with mature bony trabeculae possessing prominent osteoblastic rimming suggestive of ossifying lipoma. Conclusion It is important to recognize this variant of lipoma as it is associated with a better clinical outcome in contrast to most of the deep seated soft tissue neoplasms. Secondly it should also be differentiated from myositis ossificans and heterologous differentiation in other soft tissue neoplasms. We suggest an algorithmic approach to the diagnosis of ossifying soft tissue neoplasms histopathologically. Mature bony trabeculae with prominent osteoblastic rimming in a soft tissue lesion are due to a metaplastic process and should not be confused with osteosarcoma. PMID:24433545
Unal, Melih; Demirayak, Engin; Acar, Baver
Lipomas are benign tumors that rarely settle in the hand. They usually present with mass, pain, and nerve compression symptoms. Although isolated median or ulnar nerve compression neuropathy secondary to a lipoma of the hand has been widely reported, simultaneous median and ulnar nerve compression neuropathy are exceedingly rare and there are only three reported cases in the current literature to date. Herein, a case of a 50-year-old woman with a giant palmar lipoma that caused median and ulnar compression neuropathy is presented. The removal of the tumor resulted in the complete recovery of the patient’s symptoms. A deep-seated palmar lipoma should be kept in mind in patients with unilateral compression neuropathy symptoms with a palmar mass. PMID:29666776
Introduction Lipomas of the gastrointestinal tract are a rare condition. Only 5% are of gastric origin, and this corresponds to 2% to 3% of all benign tumors of the stomach and less than 1% of all gastric neoplasms. It is our purpose to report an unusual presentation of a giant gastric lipoma in an oligosymptomatic patient and highlight the importance of discussing differential diagnosis in this situation. A review of the literature has shown that this is one of the largest gastric lipomas described. Case presentation We describe a rare case of a benign gastric tumor with uncommon features in a 63-year-old Caucasian woman. She was admitted with abdominal discomfort, nausea, and upper abdominal fullness after eating. The lesion was suspicious of malignancy because of its dimension and central contrast enhancement on computed tomography. Conventional upper digestive endoscopy revealed a large bulging mass in the gastric posterior wall and three ulcerated areas. In this procedure, a technical limitation due to the location of the mass in the submucosa prevented an adequate biopsy from being obtained. The fragments obtained from the ulcers revealed nothing but necrotic mucosa. Our patient underwent a subtotal gastrectomy and D1 lymphadenectomy with a Roux-en-Y reconstruction. Macroscopic findings revealed a 12 × 8 × 6cm mass with a volume of 576cm3, and the histological pattern demonstrated well-differentiated mature adipose tissue surrounded by a fibrous capsule, confirming the diagnosis of gastric submucosal lipoma. Conclusions Gastric lipoma is a rare benign disease that eventually simulates a malignant tumor. PMID:23006791
Kakiuchi, Yoshihiko; Mashima, Hiroaki; Hori, Naoto; Takashima, Hirotoshi
An emergency department encounters a variety of cases, including rare cases of the strangulation of a mesenteric lipoma by the greater omentum band. A 67-year-old Japanese man presented with nausea, vomiting, and upper abdominal pain. There were no abnormalities detected by routine blood tests other than a slight rise in his white cell count. A contrast-enhanced computed tomography scan of his abdomen revealed a dilated intestine, a small intestine volvulus, and a well-capsulated homogeneous mass. He was suspected of having a small intestine volvulus that was affected by a mesenteric lipoma; therefore, single-port laparoscopic surgery was performed. Laparoscopy revealed a small intestine volvulus secondary to the strangulation of a mesenteric lipoma. The band and tumor were removed. He had no postoperative complications and was discharged on postoperative day 6. Although this case was an emergency, it showed that single-port laparoscopic surgery can be a safe, useful, and efficacious procedure.
Dème, Hamidou; Badji, Nfally; Akpo, Léra Géraud; Touré, Mouhamed Hamine; Draha, Ronald; Niang, Fallou Gallas; Diop, Abdoulaye Dione; Niang, El Hadj
We report the case of a 7-year old patient presenting for acute paroxysmal abdominal pain at the level of epigastrium associated with vomiting without involving blockage of materials and gas. Clinical examination and laboratory tests were unremarkable. Abdominal ultrasound was requested as a first line investigationa and showed a right echogenic homogeneous flank and iliac fossa mass with regular contours without vascular Doppler signal and associated with "whirl sign" of mesenteric vessels. On CT scan this mass was seen as a well-defined lipoma formation, exerting a mass effect on the cecum, which was in direct contact with mesenteric volvulus. Arrangement of the mesenteric vessels at their origin was normal. The diagnosis of mesenteric volvulus associated with lipoma was retained. Surgical management and histological analysis of the surgical specimen confirmed the diagnosis. This clinical case aims to highlight the contribution of ultrasound and CT scan in the diagnosis of midgut volvulus.
Go, Tetsuhiko; Nakajima, Nariyasu; Yokota, Naoya; Yokomise, Hiroyasu
Parosteal lipoma derived from the rib is extremely rare and is usually resected through open thoracotomy despite its benign nature. A 33-year-old man who had no symptoms was referred to our hospital for treatment of a 30-mm chest wall mass that has slightly increased in size during 2 years of follow-up. En bloc resection of the tumor with parts of the 3rd and 4th ribs was performed through a complete thoracoscopic approach using orthopedic electric micro drill. This was the first report on a case of parosteal lipoma of the rib that was resected by a complete thoracoscopic procedure.
Guler, Olcay; Mutlu, Serhat; Mahirogulları, Mahir
Lipomas are benign tumours composed of adipose tissue. They may be localized in almost all body parts and may be in a giant form. Some of these giant lipomas may transform malignity and cause problems in daily living and detoriate quality of life. Mass localization also restrict body functions. In the present study, a 72-year-old man who presented with a mass enlarged in a time period of two years and because of this could not lie in the supine position, sit in an erect position and dress easily, go outside because of his physical appearance. With surgical treatment a 38 × 22 × 21 cm mass weighing 3575 g was successfully resected. Postoperative early phase complications did not occur. During 48 months of postoperative period, any recurrence was not detected and the patient was free of all his complaints. Cosmetic and functional results of the surgery and patient satisfaction were excellent. After surgery patient's quality of life was improved and restriction of body function was disappeared. PMID:26468370
Leriquier, Claire; Benoit-Biancamano, Marie-Odile; Lacoste, Hugues; Herndon, Gregory D
A subcutaneous mass on the right pelvic limb of an 11-year-old neutered male golden retriever dog was surgically excised. A hemangiosarcoma included within an intermuscular lipoma was diagnosed upon histopathological examination. To the authors' knowledge, this is the first case report of this nature in a dog.
Leriquier, Claire; Benoit-Biancamano, Marie-Odile; Lacoste, Hugues; Herndon, Gregory D.
A subcutaneous mass on the right pelvic limb of an 11-year-old neutered male golden retriever dog was surgically excised. A hemangiosarcoma included within an intermuscular lipoma was diagnosed upon histopathological examination. To the authors’ knowledge, this is the first case report of this nature in a dog. PMID:28966362
Sesma, Julio; Bolufer, Sergio; Lirio, Francisco; Navarro-Martinez, Jose; Galiana, Maria; Baschwitz, Benno; Rivera, Maria Jesus
Endobronchial lipomas are rare benign tumors whose symptoms are usually confused with recurrent infections or even asthma diagnosis, and mostly caused by endobronquial obstructive component which also conditions severity. We report a case of a 60-year-old man with a right-lower lobe upper-segment endobronchial myxoid tumor with uncertain diagnosis. We performed a single incision video-assisted anatomical segmentectomy and wedge bronchoplasty with handsewn closure to achieve complete resection and definitive diagnosis. During the postoperative air leak was not observed and there was no complication, with low pain scores and complete recovery. Final pathological exam showed endobronchial lipoma. Single-incision (SI) anatomical segmentectomies are lung-sparing resections for benign or low-grade malignancies with diagnostic and therapeutic value, and the need for a wedge bronchoplasty is not a necessary indication for conversion to multiport or open thoracotomy. PMID:27570778
Galvez, Carlos; Sesma, Julio; Bolufer, Sergio; Lirio, Francisco; Navarro-Martinez, Jose; Galiana, Maria; Baschwitz, Benno; Rivera, Maria Jesus
Endobronchial lipomas are rare benign tumors whose symptoms are usually confused with recurrent infections or even asthma diagnosis, and mostly caused by endobronquial obstructive component which also conditions severity. We report a case of a 60-year-old man with a right-lower lobe upper-segment endobronchial myxoid tumor with uncertain diagnosis. We performed a single incision video-assisted anatomical segmentectomy and wedge bronchoplasty with handsewn closure to achieve complete resection and definitive diagnosis. During the postoperative air leak was not observed and there was no complication, with low pain scores and complete recovery. Final pathological exam showed endobronchial lipoma. Single-incision (SI) anatomical segmentectomies are lung-sparing resections for benign or low-grade malignancies with diagnostic and therapeutic value, and the need for a wedge bronchoplasty is not a necessary indication for conversion to multiport or open thoracotomy.
Fernando Val-Bernal, J; Val, Daniel; Calvo, Ignacio; Francisca Garijo, M
Isolated (localized) idiopathic granulomatous vasculitis (IGV) is an uncommon, heterogeneous, and poorly defined group of disorders characterized by infiltration of the arterial wall caused by compactly grouped mononuclear phagocytes, with or without giant cells, in segmental distribution. We report on a 55-year-old woman with IGV limited to an intramuscular lipoma of the left thigh. The vasculitis was identified incidentally upon microscopic examination of the removed tumor. The IGV was centered on two medium-sized arteries, accompanied by narrowing of the lumens, and not associated with secondary changes such as infart or postinfart fibrosis. The inflammatory infiltrate was rich in T-lymphocytes and macrophages, with the presence of giant cells. The patient was asymptomatic and well in a follow-up period of 2 months, during which she was not treated. To our knowledge, this is the first report of lipoma involvement in localized IGV. It is important to distinguish cases of isolated intratumorous IGV from systemic disease, because the latter implies a poor prognosis and requires an aggressive treatment.
Williams, D L; Haggett, E
A 10-year-old, female, neutered Cairn terrier was presented with a progressively enlarging, cream-white fluctuant subconjunctival swelling in the right eye. A fine-needle aspirate performed under topical anaesthesia showed that the mass contained lipomatous tissue. Orbital ultrasonography showed the mass to have a distinct border and to extend into the posterior orbit. The mass was removed via a conjunctival incision. It had a distinct capsule anteriorly, while the border of the mass was less readily identified in the posterior orbit. Histopathological examination showed the mass to be a lipoma. The dog recovered uneventfully from surgery, and no recurrence has been noted after 12 months.
Duran, S; Cavusoglu, M; Elverici, E; Unal, T D
Sciatic hernia is a rare condition and its clinical diagnosis is uneasy. Herniation of pelvic organs as well as of retroperitoneal neoplasm has been reported in the literature. Sciatica occurs as a result of compression of the sciatic nerve by the herniated sac. We present a case of retroperitoneal lipoma in a patient who had lower leg complaint and describe the imaging findings.
Noda, Hisatsugu; Ogasawara, Naotaka; Tamura, Yasuhiro; Kondo, Yoshihiro; Izawa, Shinya; Ebi, Masahide; Funaki, Yasushi; Sasaki, Makoto; Kasugai, Kunio
A 78-year-old woman who had recurrent right lower abdominal pain for about 1 year underwent computed tomography (CT) because of a follow-up observation 1 year after right breast cancer surgery. CT revealed a tumor in the colon. The patient was referred to our hospital for detailed examinations. An abdominal CT showed a low-density tumor of approximately 30 mm in the ascending colon, and the CT density inside the tumor was same as that of fatty tissues. A subsequent colonoscopy showed a submucosal tumor (SMT) in the proximal ascending colon developing from the terminal ileum. A colonoscopic ultrasonography revealed that the SMT was a high-echoic mass mainly localized in the submucosal layer. Based on the findings from CT, colonoscopy, and colonoscopic ultrasonography, the SMT was diagnosed as a pedunculated lipoma originating from the terminal ileum and treated with endoscopic submucosal dissection (ESD) because of recurrent abdominal pain. The 40-mm tumor was resected en bloc without complications. ESD may be more appropriate than polypectomy and surgery for removal of small intestinal tumors, because ESD allows direct visualization of the cutting line and exactly dissects the submucosal layers without damaging the muscular layers. ESD is a potentially useful treatment to remove intestinal lipomas. PMID:27843426
van der Meer, Saskia; Nicolai, Jean-Philippe A; Schut, Simone M; Meek, Marcel F
Macrodystrophia lipomatosa is a rare disease that causes congenital local gigantism of part of an extremity, which is characterised by an increase in all mesenchymal elements, particularly fibroadipose tissue. This is the first report to our knowledge of a case of histologically confirmed bilateral macrodystrophia lipomatosa of the upper extremities with syndactyly and multiple lipomas.
Cappell, Mitchell S; Stevens, Charlton E; Amin, Mitual
AIM To systematically review the syndrome of giant gastric lipomas, report 2 new illustrative cases. METHODS Literature systematically reviewed using PubMed for publications since 1980 with following medical subject heading/keywords: (“giant lipoma”) AND (“gastric”) OR [(“lipoma”) and (“gastric”) and (“bleeding”)]. Two authors independently reviewed literature, and decided by consensus which articles to incorporate. Computerized review of pathology/endoscopy records at William Beaumont Hospitals, Royal Oak and Troy, Michigan, January 2005-December 2015, revealed 2 giant gastric lipomas among 117110 consecutive esophagogastroduodenoscopies (EGDs), which were thoroughly reviewed, including re-review of original endoscopic photographs, radiologic images, and pathologic slides. RESULTS Giant gastric lipomas are extremely rare: 32 cases reported since 1980, and 2 diagnosed among 117110 consecutive EGDs. Average patient age = 54.5 ± 17.0 years old (males = 22, females = 10). Maximal lipoma dimension averaged 7.9 cm ± 4.1 cm. Ulcerated mass occurred in 21 patients. Lipoma locations: antrum-17, body-and-antrum-4, antrum-intussuscepting-into-small-intestine-3, body-2, fundus-1, and unspecified-5. Intramural locations included submucosal-22, subserosal-2, and unspecified-8. Presentations included: acute upper gastrointestinal (UGI) bleeding-19, abdominal pain-5, nausea/vomiting-5, and asymptomatic-3. Symptoms among patients with UGI bleeding included: weakness/fatigue-6, abdominal pain-4, nausea/vomiting-4, early-satiety-3, dizziness-2, and other-1. Their hemoglobin on admission averaged 7.5 g/dL ± 2.8 g/dL. Patients with GI bleeding had significantly more frequently ulcers than other patients. EGD was extremely helpful diagnostically (n = 31 patients), based on characteristic endoscopic findings, including yellowish hue, well-demarcated margins, smooth overlying mucosa, and endoscopic cushion, tenting, or naked-fat signs. However, endoscopic mucosal
Bianchini, Laurence; Birtwisle, Loïc; Saâda, Esma; Bazin, Audrey; Long, Elodie; Roussel, Jean-François; Michiels, Jean-François; Forest, Fabien; Dani, Christian; Myklebost, Ola; Birtwisle-Peyrottes, Isabelle; Pedeutour, Florence
Most lipomas are characterized by translocations involving the HMGA2 gene in 12q14.3. These rearrangements lead to the fusion of HMGA2 with an ectopic sequence from the translocation chromosome partner. Only five fusion partners of HMGA2 have been identified in lipomas so far. The identification of novel fusion partners of HMGA2 is important not only for diagnosis in soft tissue tumors but also because these genes might have an oncogenic role in other tumors. We observed that t(1;12)(p32;q14) was the second most frequent translocation in our series of lipomas after t(3;12)(q28;q14.3). We detected overexpression of HMGA2 mRNA and protein in all t(1;12)(p32;q14) lipomas. We used a fluorescence in situ hybridization-based positional cloning strategy to characterize the 1p32 breakpoint. In 11 cases, we identified PPAP2B, a member of the lipid phosphate phosphatases family as the 1p32 target gene. Reverse transcription-polymerase chain reaction analysis followed by nucleotide sequencing of the fusion transcript indicated that HMGA2 3' untranslated region (3'UTR) fused with exon 6 of PPAP2B in one case. In other t(1;12) cases, the breakpoint was extragenic, located in the 3'region flanking PPAP2B 3'UTR. Moreover, in one case showing a t(1;6)(p32;p21) we observed a rearrangement of PPAP2B and HMGA1, which suggests that HMGA1 might also be a fusion partner for PPAP2B. Our results also revealed that adipocytic differentiation of human mesenchymal stem cells derived from adipose tissue was associated with a significant decrease in PPAP2B mRNA expression suggesting that PPAP2B might play a role in adipogenesis. Copyright © 2013 Wiley Periodicals, Inc.
Pilotti, S; Torre, G Della; Mezzelani, A; Tamborini, E; Azzarelli, A; Sozzi, G; Pierotti, M A
Ordinary lipomas are cytogenetically characterized by a variety of balanced rearrangements involving chromosome segment 12q13–15, whereas well differentiated liposarcomas (WDL) show supernumerary ring and giant marker chromosomes, known to contain amplified 12q sequences. The tight correlation between the presence of ring chromosomes and both amplification and overexpression of MDM2 and CDK4 genes suggests the exploration of the possibility that immunocytochemistry (ICC) might assist in the differential diagnosis of lipoma-like well differentiated liposarcomas (LL-WDL) and large deep-seated lipomas (LDSL). For this purpose, 21 cases of the former and 19 cases of the latter tumours were analysed by ICC and, according to the availability of material, by molecular and cytogenetic approaches. All lipomas displayed a null MDM2/CDK4 phenotype, whereas all LL-WDL showed MDM2/CDK4 or CDK4 phenotypes. Southern blot analysis performed on 16 suitable cases, complemented by fluorescence in situ hybridization and classical cytogenetic analysis in 11 cases, was consistent with, and further supported the immunophenotyping data. In conclusion, MDM2/CDK4 product-based immunophenotyping appears to represent a valuable method for the categorization of arguable LDSL. © 2000 Cancer Research Campaign PMID:10755400
Yamane, Tateki; Uchiyama, Kan; Furuya, Toru; Ishii, Takayuki; Omura, Nobuo; Nakano, Masataka; Fukamachi, Shinsuke; Suwa, Tatsushi; Okusa, Toshifumi
We report a case of lipoma in the antrum of the stomach which prolapsed into the duodenal bulb and caused a duodenal ulcer, which was speculated to have been induced by the friction of its tip against the duodenal mucosa. Although the duodenal ulcer healed after the administration of a proton pump inhibitor, the symptoms of epigastric discomfort continued, which was suggested to be due to the prolapse. Therefore, a laparoscopic operation was conducted. The incidence of lipoma of the stomach is rare, and cases of its prolapse into the duodenum are few. Furthermore, it is extremely rare for it to cause a duodenal ulcer. Because these features made this case clinically interesting, we report it here.
Bianchini, Laurence; Saâda, Esma; Gjernes, Elisabet; Marty, Marion; Haudebourg, Juliette; Birtwisle-Peyrottes, Isabelle; Keslair, Frédérique; Chignon-Sicard, Bérangère; Chamorey, Emmanuel; Pedeutour, Florence
The aim of our study was first to assess the role of HMGA2 expression in the pathogenesis of adipocytic tumors (AT) and, second, to seek a potential correlation between overexpression of HMGA2 and let-7 expression inhibition by analyzing a series of 56 benign and malignant AT with molecular cytogenetic data. We measured the levels of expression of HMGA2 mRNA and of eight members of the let-7 microRNA family using quantitative RT-PCR and expression of HMGA2 protein using immunohistochemistry. HMGA2 was highly overexpressed in 100% of well-differentiated/dedifferentiated liposarcomas (WDLPS/DDLPS), all with HMGA2 amplification, and 100% of lipomas with HMGA2 rearrangement. Overexpression of HMGA2 mRNA was detected in 76% of lipomas without HMGA2 rearrangement. HMGA2 protein expression was detected in 100% of lipomas with HMGA2 rearrangement and 48% of lipomas without HMGA2 rearrangement. We detected decreased expression levels of some let-7 members in a significant proportion of AT. Notably, let-7b and let-7g were inhibited in 61% of WDLPS/DDLPS. In lipomas, each type of let-7 was inhibited in approximately one-third of the cases. Although overexpression of both HMGA2 mRNA and protein in a majority of ordinary lipomas without HMGA2 structural rearrangement may have suggested a potential role for let-7 microRNAs, we did not observe a significant link with let-7 inhibition in such cases. Our results indicate that inhibition of let-7 microRNA expression may participate in the deregulation of HMGA2 in AT but that this inhibition is neither a prominent stimulator for HMGA2 overexpression nor a surrogate to genomic HMGA2 rearrangements. Copyright © 2011 Wiley-Liss, Inc.
Huang, Dali; Sumegi, Janos; Cin, Paola Dal; Reith, John D.; Yasuda, Taketoshi; Nelson, Marilu; Muirhead, David; Bridge, Julia A.
Chondroid lipoma, a rare benign adipose tissue tumor, may histologically resemble myxoid liposarcoma or extraskeletal myxoid chondrosarcoma, but is genetically distinct. In the current study, an identical reciprocal translocation, t(11;16)(q13;p13) was identified in three chondroid lipomas, a finding consistent with previous isolated reports. A fluorescence in situ hybridization (FISH)-based positional cloning strategy using a series of bacterial artificial chromosome (BAC) probe combinations designed to narrow the 16p13 breakpoint revealed MKL2 as the candidate gene. Subsequent 5′ RACE studies demonstrated C11orf95 as the MKL2 fusion gene partner. MKL/myocardin-like 2 (MKL2) encodes myocardin-related transcription factor B (MRTF-B) in a megakaryoblastic leukemia gene family, and C11orf95 (chromosome 11 open reading frame 95) is a hypothetical protein. Sequencing analysis of RT-PCR generated transcripts from all three chondroid lipomas defined the fusion as occurring between exons 5 and 9 of C11orf95 and MKL2, respectively. Dual-color breakpoint spanning probe sets custom-designed for recognition of the translocation event in interphase cells confirmed the anticipated rearrangements of the C11orf95 and MKL2 loci in all cases. The FISH and RT-PCR assays developed in this study can serve as diagnostic adjuncts for identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma. PMID:20607705
PANAGOPOULOS, IOANNIS; GORUNOVA, LUDMILA; BJERKEHAGEN, BODIL; LOBMAIER, INGVILD; HEIM, SVERRE
Lipomas are the most common soft tissue tumors in adults. They often carry chromosome aberrations involving 12q13~15 leading to rearrangements of the HMGA2 gene in 12q14.3, with breakpoints occurring within or outside of the gene. Here, we present eleven lipomas and one osteochondrolipoma with a novel recurrent chromosome aberration, t(12;18) (q14~15;q12~21). Molecular studies on eight of the tumors showed that full-length HMGA2 transcript was expressed in three and a chimeric HMGA2 transcript in five of them. In three lipomas and in the osteochondrolipoma, exons 1–3 of HMGA2 were fused to a sequence of SETBP1 on 18q12.3 or an intragenic sequence from 18q12.3 circa 10 kbp distal to SETBP1. In another lipoma, exons 1–4 of HMGA2 were fused to an intronic sequence of GRIP1 which maps to chromosome band 12q14.3, distal to HMGA2. The ensuing HMGA2 fusion transcripts code for putative proteins which contain amino acid residues of HMGA2 corresponding to exons 1–3 (or exons 1–4 in one case) followed by amino acid residues corresponding to the fused sequences. Thus, the pattern is similar to the rearrangements of HMGA2 found in other lipomas, i.e., disruption of the HMGA2 locus leaves intact exons 1–3 which encode the AT-hooks domains and separates them from the 3′-terminal part of the gene. The fact that the examined osteochondrolipoma had a t(12;18) and a HMGA2-SETBP1 fusion identical to the findings in the much more common ordinary lipomas, underscores the close developmental relationship between the two tumor types. PMID:26202160
Petit, Damien; Menei, Philippe; Fournier, Henri-Dominique
The authors describe the first case of spindle cell lipoma of the posterior neck invading the upper cervical spinal canal and the posterior cranial fossa. Spindle cell lipoma is an extremely rare variant of benign lipoma. It usually occurs as a solitary subcutaneous well-circumscribed lesion in the posterior neck or shoulders of adult men. Local aggressiveness is unusual. This 61-year-old man presented with an increased left cerebellar syndrome and headaches. He also had a posterior neck tumefaction, which had been known about for a long time. Computed tomography and MR imaging studies revealed a voluminous mass extending to the upper cervical canal and posterior cranial fossa and eroding the neighboring bones. The lesion was well delimited, and contrast enhancement was intense and heterogeneous. The tumor, which had initially developed under the muscles of the posterior neck, was totally resected. Histological assessment revealed numerous fat cells with spindle cells secreting collagen. The large size of the tumor and the submuscular location, bone erosion, and compression of the CNS were unusual in this rare subtype of benign adipose tumor. Its presentation could simulate a sarcoma.
Zhu, Guangyu; Tian, Xiangdong; Du, Dongfeng; Lei, Ming; Guan, Lei; Wang, Jian; Tan, Yetong; Yang, Chen; Zheng, Xinxin
Arthroscopy is a minimally invasive surgical procedure on a joint in which examination and treatment of knee damage is performed using a surgical device known as the arthroscope. Lipoma arborescens (LA), an infrequent intra-articular lesion, originates from mature adipose cells under subsynovial tissue. The synovial membrane is pale yellow with large villous projections. It is caused by various underlying factors. We found many patients with LA and processed them appropriately.The research was implemented to investigate therapeutic effect of semi-automated arthroscopic diagnosis and treatment for knee joint. We used the Stryker arthroscopic in surgery that is 4 mm in diameter with angle at 30°. Patients were chosen by biomechanical analysis and scanning mode. All of the patients underwent radiographic imaging examination, Magnetic Resonance Imaging (MRI), Lysholm Score and Visual Analogue Scale (VAS). Arthroscopic limited synovectomy was carried out on these patients. The wound of all patients healed up. The content of follow-up includes: chief complaints, range of motion of knee joint, Visual Analogue Scale (VAS) and Lysholm score. No swollen nor effusion of the infected knee was found in all patients during the follow-up. The postoperative symptom was markedly alleviated in fourteen patients and partially alleviated in one. All patients were satisfied with the therapeutic effect. We performed biomechanical analysis based on knee slight flexion and extension. Arthroscopy is an endoscope for the diagnosis and treatment of joint diseases. Semi-automated arthroscopic debridement is good for early and mid-term osteoarthritis with Lipoma arborescens. Copyright © 2018. Published by Elsevier Ltd.
Stimmelmayr, Raphaela; Rotstein, David; Seguel, Mauricio; Gottdenker, Nicole
We describe a case series of benign hepatic fatty tumors in 10 subsistence-harvested bowhead whales. Microscopic features included lipomatous and myelolipomatous masses. Extensive atrophy and/or destruction of hepatic parenchyma was not observed. No other significant disease was present except in an animal with unrelated chronic pleuritis. Based on our longitudinal case series (1980-2016) which identified 1-2 hepatic lipomas and myelolipomas in landed whales annually at Barrow, Alaska (USA), since 2012, hepatic lipomas and myelolipomas are occasionally seen in hunter-harvested bowhead whales. A conservative estimate for the percentage of bowhead whales with hepatic fatty tumors in landed whales in Barrow from 2012 to 2016 was 6% (7/111). The pathogenesis and exact cell origin of these benign fatty tumors in bowhead whales is undetermined. Assessment of further cases is warranted to better define the tissue distribution and pathogenesis of these tumors in bowhead whale liver.
Colella, Giuseppe; Biondi, Paolo; Caltabiano, Rosario; Vecchio, Giada Maria; Amico, Paolo; Magro, Gaetano
We herein report a rare case of giant intramuscular lipoma of the tongue. A 75-year-old Italian male presented at our department with a large tumor at the tip of the tongue that had been present for over 30 years. Clinical examination revealed a yellowish lesion, measuring 10 cm in maximum diameter, protruding from lingual surface. Histological examination showed an unencapsulated lipomatous tumor composed of mature adipocytes, uniform in size and shape, diffusely infiltrating striated muscle fibers of the tongue. The patient is well with no local recurrence after a 15-month follow-up period.
We herein report a rare case of giant intramuscular lipoma of the tongue. A 75-year-old Italian male presented at our department with a large tumor at the tip of the tongue that had been present for over 30 years. Clinical examination revealed a yellowish lesion, measuring 10 cm in maximum diameter, protruding from lingual surface. Histological examination showed an unencapsulated lipomatous tumor composed of mature adipocytes, uniform in size and shape, diffusely infiltrating striated muscle fibers of the tongue. The patient is well with no local recurrence after a 15-month follow-up period. PMID:19830025
Bicakcioglu, Pinar; Sak, Serpil D; Tastepe, Abdullah I
Liposarcoma is the second most common soft tissue sarcoma after malignant fibrous histiocytoma in adults. It is frequently found in the extremities and retroperitoneum; rarely it can be seen in the chest wall. We report a rare case of giant liposarcoma originating from the chest wall representing a transformation of a relapsing lipoma in the same region. We performed chest wall resection, reconstruction with latissimus dorsi muscle transposition via posterolateral thoracotomy. The patient received 4 series of adjuvant chemotherapy after the postoperative diagnosis of dedifferentiated liposarcoma. The patient had no postoperative complication and has remained disease-free for 30 months.
Ozdemir, O; Calisaneller, T; Gerilmez, A; Gulsen, S; Altinors, N
Guyon's canal syndrome is an ulnar nerve entrapment at the wrist or palm that can cause motor, sensory or combined motor and sensory loss due to various factors . In this report, we presented a 66-year-old man admitted to our clinic with a history of intermittent pain in the left palm and numbness in 4th and 5th finger for two years. His neurological examination revealed a sensory impairment in the right fifth finger. Also, physical examination displayed a subcutaneous mobile soft tissue in ulnar side of the wrist. Electromyographic examination confirmed the diagnosis of type-1 Guyon's canal syndrome. Under axillary blockage, a lipoma compressing the ulnar nerve was excised totally and ulnar nerve was decompressed. The symptoms were improved after the surgery and patient was symptom free on 3rd postoperative week.
Background Compression of the median nerve by a tumour in the elbow and forearm region is rare. We present a case of neuropathy of the median nerve secondary to compression by giant lipoma in the proximal forearm. Case presentation A 46-year-old man presented with a six month history of gradually worsening numbness and paresthesia on the palmar aspect of the left thumb and thenar eminence. Clinical examination reveals a hypoaesthesia in the median nerve area of the left index and thumb compared to the contralateral side. Electromyography showed prolonged sensory latency in the distribution of the median nerve corresponding to compression in the region of the pronator teres (pronator syndrome). Radiological investigations were initially reported as normal. Conservative treatment for one month did not result in any improvement. Surgical exploration was performed and a large intermuscular lipoma enveloped the median nerve was found. A complete excision of the tumour was performed. Postoperative revaluation the X-ray of the elbow was seen to demonstrate a well-circumscribed mass in the anterior aspect of the proximal forearm. At follow-up, 14 months after surgery, the patient noted complete return of the sensation and resolution of the paresthesia. Conclusion In case of atypical findings or non frequent localization of nerve compression, clinically interpreted as an idiopathic compression, it is recommended to make a pre-operative complementary Ultrasound or MRI study. PMID:18541043
Venkatesh, Sandeep Halagatti; Wong, Bak Siew Steven
A 54-year-old woman presented with a large mass on her right hand that was progressively enlarging over a period of a few years. She had cosmetic concerns about the enlarging mass and experienced interference with routine activity. Physical examination revealed a soft, mobile, non-tender, lobulated mass with well-defined margins. Magnetic resonance imaging showed the soft lump to be a lipomatous mass in the deep palmar space of the hand, which was subsequently surgically resected. The imaging features of deep palmar lipomas of the hand and other common benign lesions at this location are discussed. Copyright: © Singapore Medical Association.
Amato, G; Martella, A; Ferraraccio, F; Di Martino, N; Maffettone, V; Landolfi, V; Fei, L; Del Genio, A
Liposarcoma is the second most common soft tissue sarcoma in adults. These neoplasms take their origin from primitive mesenchymal cells and are rarely encountered in fat rich areas, such as subcutaneous tissue and/or the subserosa of the intestinal tract which, on the contrary, are the two most common sites of lipomas. The two major locations of liposarcomas are the extremities and the retroperitoneum followed with much less frequency by the inguinal region. Other sites are uncommon, particularly the mesentery (9 cases to date in the literature) and, even more so, the mesocolon (only 3 cases of primary sarcoma of the mesocolon reported to date). This paper reports on the case of a well differentiated "lipoma-like" liposarcoma of the sigmoid mesocolon, associated with multiple lipomatosis of the recto-sigmoid colon in a 75 year-old female patient. Surgical treatment consisted of a trans-anal extra-peritoneal anterior resection by CEEA 28 stapler under endoscopic vision. The patient has been followed up for the last 2 years and is still disease-free and well. The peculiarity of the case consists in the contemporaneous presence in close contiguity of two different rare neoplasms whose association is not yet known.
FENG, Yu-Ching; CHEN, Kuan-Sheng; CHANG, Shih-Chieh
This animal was presented with a large-sized infiltrative lipoma in the abdominal wall that had been noted for 4 years. This lipoma was confirmed by histological examination from a previous biopsy, and the infiltrative features were identified by a computerized tomography scan. The surgical removal created a large-sized abdominal defect that was closed by a combination of latissimus dorsi and external abdominal oblique muscle flaps in a pedicle pattern. A small dehiscence at the most distal end of the muscle flap resulted in a small-sized abdominal hernia and was repaired with cranial sartorius muscle flap 14 days after surgery. The dog was in good general health with no signs of tumor recurrence after 18 months of follow-up. PMID:27476526
Tu, Albert; Hengel, Ross; Cochrane, D Douglas
Many patients with lumbosacral lipoma are asymptomatic; however, a significant proportion will have neurological deficits present at birth. Implication of these deficits with respect to natural history and management are not well understood. A retrospective review of all infants with lumbosacral lipoma seen at BCCH between 1997 and 2013 was carried out. The study population was stratified on the presence of a congenital, non-progressive deficit and subdivided on treatment approach. The subsequent developments of deficits resulting in untethering procedures were recorded. Of the 44 infants in this study, 24 patients had no neurologic deficit while 20 patients had a fixed, non-progressive deficit evident at birth. Ten of 24 patients without a neurological deficit at birth underwent a prophylactic untethering with 3 eventually requiring repeat untethering after, on average, 62.7 months. Eleven of 14 asymptomatic, monitored patients required untethering for clinical deterioration. Two required a second untethering procedure after 48.7 months. Ten of 20 infants with congenital deficits present at birth underwent prophylactic untethering, and 4 required further surgery after 124 months. Ten patients underwent observation with 8 eventually requiring surgery. Two required repeat untethered after 154 months. The complication rates and operative burden for patients are similar whether prophylactic or delayed surgery is performed. The presence of congenital neurologic deficit does not affect the likelihood of deterioration in patients managed expectantly; prophylactic detethering of these patients did not prevent delayed neurologic deterioration. Comparing the need for repeat surgery in prophylactically untethered patients with initial untethering of patients operated upon at the time of deterioration, prophylactic untethering may confer a benefit with respect to subsequent symptomatic tethering if complication rates are low. However, in a setting with multidisciplinary
Gourineni, Prasad; Dias, Luciano; Blanco, Ronaldo; Muppavarapu, Satheesh
Lipomeningocele is the most common cause of occult spinal dysraphism and spinal cord tethering. Children with this condition seem normal at birth except for cutaneous signs, and the initial complaints are usually musculoskeletal. We studied the orthopaedic deformities observed in this condition. We reviewed the medical charts of 159 patients with a diagnosis of lipoma of the lumbosacral spine that were examined in the Myelodysplasia Clinic over 25 years. Of these patients, 122 were treated by a single orthopaedic surgeon (L.D.) and were studied in detail. Of these 122 patients, 45 were over 15 years of age at the time of the final follow-up. Most patients had cutaneous stigmata. Foot deformities were the most common orthopaedic problems, followed by scoliosis. In patients over 15 years of age, the incidence of foot deformities was 44.2% (36 feet), with 20 feet requiring surgical treatment. The most common foot deformities were cavovarus, cavus, and equinocavovarus. In 70% of the surgical cases, good correction was achieved with only one procedure. Foot surgeries in patients under the age of 8 years were usually soft tissue procedures, and bony procedures were performed primarily in patients over the age of 11 years. Orthopaedic deformities are common at the initial presentation in patients with occult spinal dysraphism. A careful clinical examination with a high index of suspicion for spinal cord anomalies is indicated in all cases of spinal and lower extremity deformities. Foot deformities are very common and surgical treatment is usually successful. A thorough follow-up evaluation, including manual muscle strength testing, should be performed routinely to detect tethering of the cord in the early stages and to prevent worsening of the orthopaedic deformities. This was a retrospective case study. Level 4.
Schoenmakers, E.F.P.M.; Kools, P.F.J.; Mols, R.
The authors report here the physical mapping of recurrent chromosome 12q13-q15 breakpoints in cell lines derived from primary myxoid liposarcoma, lipoma, uterine leiomyoma, and pleomorphic adenoma of the salivary glands. In fluorescence in situ hybridization (FISH) experiments, they first mapped the position of the chromosome 12 translocation breakpoint in uterine leiomyoma cell line LM-30.1/SV40 relative to loci COL2A1, D12S4, D12S17, D12S6, D12S19, D12S8, and D12S7. It mapped between linkage probes CRI-C86 (D12S19) and p7G11 (D12S8). They then isolated YAC clones using CRI-C86- and p7G11-derived sequence-tagged sites, constructed corresponding YAC contigs of 310 and 800 kb, respectively, and a mixture ofmore » them was used to routinely study the various tumor cell lines by FISH analysis. The chromosome 12 breakpoints of all tumor cell lines tested mapped between cosmids LLNL12NCO1-98C10 and LLNL12NCO1-113D12. None of the breakpoints appeared to map within any of the isolated YAC clones. Furthermore, FISH analysis using cosmid LLNL12-NCO1-144G3, which maps at the CHOP locus, revealed that the chromosome 12 breakpoints in all cell lines of the three benign solid tumors that were tested were located distal to the chromosome 12 translocation breakpoint with the CHOP gene in myxoid liposarcoma cells with t(12;16). In conclusion, the studies seem to indicate that the chromosome 12 breakpoints of myxoid liposarcoma, lipoma, uterine leiomyoma, and pleomorphic adenoma of the salivary glands are all clustered within the 7-cM interval between D12S19 and D12S8, with those of the benign solid tumors distal to CHOP. Finally, the MYF5 gene mapped telomeric to LLNL12NCO1-113D12, and the MIP gene mapped centromeric to the chromosome 12 translocation breakpoint in myxoid liposarcoma cells. 56 refs., 5 figs., 3 tabs.« less
Introduction The initial diagnosis of intussusception in adults very often can be missed and cause delayed treatment and possible serious complications. We report the case of an adult patient with complicated double ileoileal and ileocecocolic intussusception. Case presentation A 46-year-old Caucasian man was transferred from the gastroenterology service to the abdominal surgery service with severe abdominal pain, nausea, and vomiting. An abdominal ultrasound, barium enema, and abdominal computed tomography scan revealed an intraluminal obstruction of his ascending colon. Plain abdominal X-rays showed diffuse air-fluid levels in his small intestine. A double ileoileal and ileocecocolic intussusception was found during an emergent laparotomy. A right hemicolectomy, including resection of a long segment of his ileum, was performed. The postoperative period was complicated by acute renal failure, shock liver, and pulmonary thromboembolism. Our patient was discharged from the hospital after 30 days. An anatomical pathology examination revealed a lipoma of his ileum. Conclusions Intussusception in adults requires early surgical resection regardless of the nature of the initial cause. Delayed treatment can cause very serious complications. PMID:21910876
Jiang, Kun; Stephen, F Otis; Jeong, Daniel; Pimiento, Jose M
Pancreatic and gastric heterotopias are rare clinical entities which have been identified throughout the entire length of the gastrointestinal tract. Combined gastric and pancreatic heterotopias, although unusual, have been described in the duodenum and jejunum, and in other structures, including Meckel's diverticulum and the ampulla of Vater. We report a novel case of pancreatic and gastric heterotopia with an associated submucosal lipoma in a 38-year-old female with a recent history of rectal cancer and chronic crampy abdominal pain. On computed tomography, a 7-cm luminal polypoid mass extending into the distal ileum was discovered. The mass was successfully resected using retrograde double balloon enteroscopy. We believe this is the first report of all three histological entities co-existing in an obstructive ileal lesion in an adult. It highlights endoscopic resection trough double enteroscopy as a safe alternative to more invasive surgical approaches for this type of lesion.
Plummer, C; Spring, P J; Marotta, R; Chin, J; Taylor, G; Sharpe, D; Athanasou, N A; Thyagarajan, D; Berkovic, S F
Multiple Symmetrical Lipomatosis (MSL) is an unusual disorder characterized by the development of axial lipomas in adulthood. The pathoetiology of lipoma tissue in MSL remains unresolved. Seven patients with MSL were followed for a mean period of 12 years (8-20 years). All patients had cervical lipomas ranging from subtle lesions to disfiguring masses; six patients had peripheral neuropathy and five had proximal myopathy. Myoclonus, cerebellar ataxia and additional lipomas were variably present. All patients showed clinical progression. Muscle histopathology was consistent with mitochondrial disease. Five patients were positive for mtDNA point mutation m.8344A>G, three of whom underwent lipoma resection--all samples were positive for uncoupling protein-1 mRNA (unique to brown fat). Lipoma from one case stained positive for adipocyte fatty-acid protein-2 (unique to brown fat and immature adipocytes). This long-term study hallmarks the phenotypic heterogeneity of MSL's associated clinical features. The clinical, genetic and molecular findings substantiate the hypothesis that lipomas in MSL are due to a mitochondrial disorder of brown fat. Copyright © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
O'Grady, John; Kaliaperumal, Chandrasekaran; O'Sullivan, Michael
Lipoma is popularly known as the ‘universal tumour’ because of its ubiquitous presence anywhere in the body. This is the first documented case of recurrent thoracic spinal cord intramedullary lipoma in a 44-year-old man, with a background of spinal dysraphism, which recurred 15 years after initial surgery. He was followed up every 2 years and currently presented with an 8-month history of progressive weakness in his lower limbs. An MRI of the spine confirmed recurrence of lipoma. He underwent redo laminectomy and partial resection and spinal cord decompression with duroplasty. Lipoma, although a low-grade tumour, can cause significant neurological deficits because of its location. Surgical exploration and removal of lipoma is recommended. However, to preserve the functionality of the spinal cord, one may resort to partial resection and aim for spinal cord decompression. The literature on spinal cord lipoma is reviewed and the aetiopathogenesis of this rare occurrence is described. PMID:22675149
Jones, Victoria; Wykes, Victoria; Cohen, Nicki; Thompson, Dominic; Jacques, Tom S
Lumbosacral lipomas (LSL) are congenital disorders of the terminal spinal cord region that have the potential to cause significant spinal cord dysfunction in children. They are of unknown embryogenesis with variable clinical presentation and natural history. It is unclear whether the spinal cord dysfunction reflects a primary developmental dysplasia or whether it occurs secondarily to mechanical traction (spinal cord tethering) with growth. While different anatomical subtypes are recognised and classified according to radiological criteria, these subtypes correlate poorly with clinical prognosis. We have undertaken an analysis of surgical specimens in order to describe the spectrum of histological changes that occur and have correlated the histology with the anatomical type of LSL to determine if there are distinct histological subtypes. The histopathology was reviewed of 64 patients who had undergone surgical resection of LSL. The presence of additional tissues and cell types were recorded. LSLs were classified from pre-operative magnetic resonance imaging (MRI) scans according to Chapman classification. Ninety-five per cent of the specimens consisted predominantly of mature adipocytes with all containing thickened bands of connective tissue and peripheral nerve fibres, 91% of samples contained ectatic blood vessels with thickened walls, while 22% contained central nervous system (CNS) glial tissue. Additional tissue was identified of both mesodermal and neuroectodermal origin. Our analysis highlights the heterogeneity of tissue types within all samples, not reflected in the nomenclature. The diversity of tissue types, consistent across all subtypes, challenges currently held notions regarding the embryogenesis of LSLs and the assumption that clinical deterioration is due simply to tethering. © 2018 The Authors. Histopathology Published by John Wiley & Sons Ltd.
Raghunath, Vandana; Manjunatha, Bhari Sharanesha
Lipomas are benign soft tissue tumours composed mainly of mature adipose tissue. Histological variants of lipomas have been named according to the type of tissue present and they include fibrolipoma, angiolipoma, osteolipoma, chondrolipoma and others. Osteolipoma, a classic lipoma with osseous metaplasia, is a very rare histological variant. Owing to the rarity of oral osteolipomas, we report an uncommon case of osteolipoma located on the floor of the mouth of a 20-year-old female patient and include a review of the literature. PMID:26113591
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Raghunath, Vandana; Manjunatha, Bhari Sharanesha
Lipomas are benign soft tissue tumours composed mainly of mature adipose tissue. Histological variants of lipomas have been named according to the type of tissue present and they include fibrolipoma, angiolipoma, osteolipoma, chondrolipoma and others. Osteolipoma, a classic lipoma with osseous metaplasia, is a very rare histological variant. Owing to the rarity of oral osteolipomas, we report an uncommon case of osteolipoma located on the floor of the mouth of a 20-year-old female patient and include a review of the literature. 2015 BMJ Publishing Group Ltd.
Identification of a YAC spanning the translocation breakpoints in uterine leiomyomata, pulmonary chondroid hamartoma, and lipoma: Physical mapping of the 12q14-q15 breakpoint region in uterine leiomyomata
Fejzo, M.S.; Yoon, S.J.; Kucherlapati, R.S.
Uterine leiomyomata are the most common tumors in women and can cause abnormal uterine bleeding, pelvic pain, and infertility. Approximately 200,000 hysterectomies are performed annually in the U.S. to relieve patients of the medical sequelae of these benign neoplasms. Our efforts have focused on cloning the t(12;14)(q14-q15;q23-q24) breakpoint in uterine leiomyoma to further our understanding of the biology of these tumors. Thirty-nine YACs and six cosmids mapping to 12q14-q15 have been mapped by fluorescence in situ hybridization to tumor metaphase chromosomes containing a t(12;14). One YAC spanned the translocation breakpoint and was mapped to tumor metaphases from a pulmonary chondroidmore » hamartoma containing a t(12;14)(q14-q15;q23-q24) and a lipoma containing a t(12;15)(q15;q24); this YAC also spanned the breakpoint in these two tumors, suggesting that the same gene on chromosome 12 may be involved in the pathobiology of these distinct benign neoplasms. 41 refs., 2 figs., 1 tab.« less
Del Agua, C; Felipo, F
Adenolipoma of the skin is an unusual variant of lipoma recently described by Hitchcock et al. and characterized by the presence of normal eccrine sweat glands within a lipoma. We report a case and review the literature. A 45-year-old woman presented with a slow-growing, painless nodule on the thigh, clinically considered to be lipoma. Microscopically it comprised an adipose-tissue proliferation with a single eccrine secretory coil and associated duct in the periphery and in the center of the nodule. This benign lesion has been termed adenolipoma because of the presence of adipose tissue and eccrine glands. It probably represents only a histological curiosity in which the eccrine glands are entrapped by the adipose proliferation. Adenolipoma of the skin is a distinct lesion that can occur in the dermis or subcutaneous tissue.
Nunes, F D; Loducca, S V L; de Oliveira, E M F; de Araújo, V C
Intraoral liposarcomas are rare, with most reported cases being of the myxoid histological type. We present a well-differentiated liposarcoma of the tongue, in a 65-year-old man. The tumour presented lipoblasts in various stages of differentiation, lipocytes in different sizes and shapes, mesenchymal and signet-ring cells. Lipoma, spindle-cell lipoma, myxoma, hibernoma, angiolipoma, fibrolipoma, pseudosarcomatous faciitis and malignant hysticytoma were considered in the diagnosis process. The patient was treated surgically and so far is free of disease.
Fricke, A; Cimniak, A F V; Ullrich, P V; Becherer, C; Bickert, C; Pfeifer, D; Heinz, J; Stark, G B; Bannasch, H; Braig, D; Eisenhardt, S U
Liposarcoma constitute about 13% of all soft tissue sarcoma and are associated with a high risk of metastases. As the preoperative differentiation between benign and malign lipomatous tumors is restricted to magnetic resonance imaging, computed tomography and biopsy, we performed a miRNA array to distinguish dedifferentiated liposarcoma patients from healthy controls and lipoma patients. Blood samples of patients with dedifferentiated liposarcoma, healthy controls and lipoma patients were collected. Whole blood RNA was extracted and samples of patients with dedifferentiated liposarcoma (n= 6) and of healthy donors (n= 4) were analyzed using an Affymetrix GeneChip miRNA Array v. 4.0. qRT-PCR was carried out to confirm the most differentially expressed miRNA; being further analyzed in an independent cohort of healthy controls as well as in lipoma patients. As shown by the microarray, two miRNAs (miR-3613-3p, miR-4668-5p) were shown to be significantly upregulated (fold change: > 2.5; p< 0.05) in patients with dedifferentiated liposarcoma (n= 6) as compared to healthy controls (n= 4). miR-3613-3p was further validated by qRT-PCR to be significantly upregulated in dedifferentiated liposarcoma patients compared to an independent cohort of healthy controls (n= 3) and lipoma patients (n= 5). We identified a specific whole blood miRNA (miR-3613-3p) that may serve to distinguish between dedifferentiated liposarcoma patients and healthy controls, thus potentially serving as a specific biomarker for dedifferentiated liposarcoma.
Irreparable Radial Nerve Palsy Due to Delayed Diagnostic Management of a Giant Lipoma at the Proximal Forearm Resulting in a Triple Tendon Transfer Procedure: Case report and Brief Review of Literature
Background: Non-traumatic radial nerve palsy (RNP) caused by local tumors is a rare and uncommon entity. Methods: A 62-year-old female presented with a left non-traumatic RNP, initially starting with weakness only. It was caused by a benign giant lipoma at the proximal forearm that was misdiagnosed over a period of 2 years. The slowly growth of the tumor led to an irreparable overstretching-related partial nerve disruption. For functional recovery of the patient, a triple tendon transfer procedure had to be performed. Results: Four months after surgery, the patient was completely able to perform her activities of daily living again. At the 10-months follow-up, strength of wrist extension, thumb's extension and abduction, and long fingers II-V extension had all improved to grade 4 in Medical Research Council scale (0-5). In order to restore motion, the patient reported that she would undergo the same triple tendon transfer procedure a second time where necessary. Due to the initially misdiagnosed tumor, there was an overall delayed duration of time for functional recovery of the patient. Conclusion: The triple tendon transfer procedure offers a useful and reliable method to restore functionality for patients sustaining irreparable RNP. However, it must be noted critically with our patient that this procedure probably would have been avoided. Initially, there was weakness only by entrapment of the radial nerve. RNP caused by local tumors are uncommon but known from the literature, and so it should be considered generally in differential diagnosis of non-traumatic RNP. PMID:28979592
Bassetto, Franco; Scarpa, Carlotta; De Stefano, Fabio; Busetto, Luca
Multiple symmetric lipomatosis (MSL) is a rare disease of unknown etiology, characterized by the presence of multiple, symmetrical, noncapsulated lipomas, mostly in the neck and upper trunk. To date, there is no effective medical treatment of MSL. Surgical treatment is based on 2 options, namely, lipectomy and/or liposuction. In this retrospective study, we compare traditional lipectomy with ultrasound-assisted liposuction. Our initial experience demonstrates that the ultrasound-assisted liposuction procedure can be applied to patients with MSL, allowing simultaneous treatment of multiple areas in a single session and the removal of a substantial amount of fat, thus improving aesthetic results. If lipomas are circumscribed and isolated, traditional lipectomy is probably to be preferred.
Sestini, S; Gisabella, M; Pastorino, U; Billé, A
Lipomas of the gastrointestinal tract are rare, slow-growing lesions that comprise 0.4% of all gastrointestinal neoplasms. They can cause dysphagia, dyspnoea or sudden choking. Due to rarity of this condition and its uncommon presentation, a literature review was carried out (PubMed). This search revealed 290 articles, of which 74 were considered pertinent and were evaluated. We report a case of a 13cm pedunculated oesophageal lipoma that presented with increasing dysphagia and two episodes of suffocation. The patient underwent curative resection through a cervical approach. Resection is recommended for large (>5 cm) or symptomatic polyps. Outcomes are excellent given that lesions are universally benign and oesophageal resection is not required.
Burt, Ashley M.; Huang, Brady K.
Lipomatous lesions are common musculoskeletal lesions that can arise within the soft tissues, bone, neurovascular structures, and synovium. The majority of these lesions are benign, and many of the benign lesions can be diagnosed by radiologic evaluation. However, radiologic differences between benign and malignant lipomatous lesions may be subtle and pathologic correlation is often needed. The use of sonography, computed tomography (CT), and magnetic resonance imaging (MRI) is useful not only in portraying fat within the lesion, but also for evaluating the presence and extent of soft tissue components. Lipomas make up most soft tissue lipomatous lesions, but careful evaluation must be performed to distinguish these lesions from a low-grade liposarcoma. In addition to the imaging appearance, the location of the lesion and the patient demographics can be utilized to help diagnose other soft tissue lipomatous lesions, such as elastofibroma dorsi, angiolipoma, lipoblastoma, and hibernoma. Osseous lipomatous lesions such as a parosteal lipoma and intraosseous lipoma occur less commonly as their soft tissue counterpart, but are also benign. Neurovascular and synovial lipomatous lesions are much rarer lesions but demonstrate more classic radiologic findings, particularly on MRI. A review of the clinical, radiologic, and pathologic characteristics of these lesions is presented. PMID:28474576
Voulliaume, D; Vasseur, C; Delaporte, T; Delay, E
Liposuction is a simple and elegant way to treat fatty excess; it has been even used for the treatment of lipomas and some gynecomasties. The goal of this article is to present 2 patients with an unusual complication of this use: the liposuction of a malignant tumor. The first patient consulted following the liposuction of a "gynecomasty", which was in fact a breast cancer. The second was treated by liposuction for an ankle "lipoma"; it proved to be a liposarcoma. In order to avoid liposuction and dissemination of a malignant tumor, the pre-operative investigations have to search clinical peculiarities evoking the diagnosis: an unilateral "gynecomasty", irregular, hard or painless, in a 50-years-old patient, must incite the surgeon to perform a classical excision, just as a recurrent "lipoma", deeply located, voluminous or quickly extensive, situated on the limbs or in the humeroscapular area. Paraclinic investigations may be indicated; doubtful cases must be right away rejected for liposuction, and treated by a surgical excision with strict safety margins and complete anatomopathologic examination of the lesion. Liposuction has become a very useful technique for the plastic surgeon; however, we must not forget, despite of its many advantages the risk for dissemination of an unknown malignant tumor. Every surgeon must keep it in mind and prefer a surgical removal in atypical cases.
Nguyen, Tam; Zuniga, Ramiro
Benign subcutaneous lesions are a common reason that patients visit family physicians. Lipomas are the most common of these lesions; they most often occur on the trunk and proximal extremities. Recent data show that as many as half of the fat cells in lipomas are atypical. Ultrasound is used increasingly to confirm lipoma diagnosis, but deep lesions should be evaluated with magnetic resonance imaging study or computed tomography scan to exclude involvement of underlying structures and/or liposarcoma. Small lesions can sometimes be managed with serial injections of midpotency steroids. Larger lesions (larger than 5 cm), those compressing other structures, or those suspicious for malignancy should be excised using standard surgical excision or, when possible, the newer minimal-scar segmental extraction technique. Ganglion cysts are another common lesion, the presence of which often is confirmed with ultrasound if the diagnosis is not clinically apparent. Management includes splinting, aspiration, and/or injection of steroids, with or without hyaluronidase. Epidermal inclusion cysts, also called sebaceous cysts, typically are asymptomatic unless they become infected. Ultrasound can aid in diagnosis. The only definitive management is surgical excision with complete removal of the cyst wall or capsule, using minimal-scar segmental extraction or conventional surgical removal. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.
Dedifferentiated liposarcoma with lipoma-like well-differentiated liposarcoma: clinicopathological study of 30 cases, with particular attention to the comingling pattern of well- and dedifferentiated components: a proposal for regrouping of the present subclassification of well-differentiated liposarcoma and dedifferentiated liposarcoma.
Iwasa, Yoko; Nakashima, Yasuaki
Dedifferentiated liposarcoma (DDL) is defined as nonlipogenic sarcoma, with an abrupt transition from coexisting well-differentiated liposarcoma (WDL). However, intermingled transition in a mosaic pattern between WDL and DDL is not infrequently encountered. Here, the authors review clinicopathological features of 30 cases of DDL associated with lipoma-like WDL. Histological examination revealed 20 tumors that showed an abrupt transition between WDL and DDL. Among these, 13 tumors showed high-grade spindle-cell sarcoma having histological features of unclassified malignant fibrous histiocytoma (MFH)-like sarcoma (high-grade DDL [HDDL]). The remaining 7 tumors showed moderate cellular spindle-cell proliferation with mild nuclear atypia and scant mitotic figures (low-grade DDL [LDDL]). The other 10 tumors showed intermingled transition between WDL and DDL. The interface between these 2 components overlapped, resulting in frequent occurrence of a lipogenic spindle-cell component (comingling DDL). Based on the cellularity and nuclear atypia of the spindle-cell components, there were 7 comingling HDDLs and 3 comingling LDDLs. The histology of comingling LDDL simulated an admixture of spindle-cell liposarcoma and LDDL, and distinction from each other was practically difficult. The histology of comingling HDDL simulated pleomorphic liposarcoma. Follow-up data, available for 23 patients (median, 39 months), showed that 2 patients died of tumor (both had HDDL), and 1 patient died of unrelated disease; 8 patients were alive with recurrent or metastatic diseases (3 HDDLs, 3 LDDLs, and 2 comingling HDDLs). Statistical analysis by Fisher's exact test showed no correlation between histological subtypes (HDDL and LDDL, and typical DDL and comingling DDL).
Battista, S; Fidanza, V; Fedele, M; Klein-Szanto, A J; Outwater, E; Brunner, H; Santoro, M; Croce, C M; Fusco, A
Rearrangements of the HMGI-C gene have frequently been detected in human benign tumors of mesenchymal origin, including lipomas. The HMGI-C protein has three AT-hook domains and an acidic COOH-terminal tail. The HMGI-C modifications consist in the loss of the C-tail and the fusion with ectopic sequences. Recent results show that the loss of the COOH-terminal region, rather than the acquisition of new sequences, is sufficient to confer to HMGI-C the ability to transform NIH3T3 cells. Therefore, transgenic mice carrying a HMGI-C construct (HMGI-C/T), containing only the three AT-hook domains, were generated. The HMGI-C/T mice showed a giant phenotype, together with a predominantly abdominal/pelvic lipomatosis, suggesting a pivotal role of the HMGI-C truncation in the generation of human lipomas.
Background Diagnosing adipocytic tumors can be challenging because it is often difficult to morphologically distinguish between benign, intermediate and malignant adipocytic tumors, and other sarcomas that are histologically similar. Recently, a number of tumor-specific chromosome translocations and associated fusion genes have been identified in adipocytic tumors and atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDL), which have a supernumerary ring and/or giant chromosome marker with amplified sequences of the MDM2 and CDK4 genes. The purpose of this study was to investigate whether quantitative real-time polymerase chain reaction (PCR) could be used to amplify MDM2 and CDK4 from total RNA samples obtained from core-needle biopsy sections for the diagnosis of ALT/WDL. Methods A series of lipoma (n = 124) and ALT/WDL (n = 44) cases were analyzed for cytogenetic analysis and lipoma fusion genes, as well as for MDM2 and CDK4 expression by real-time PCR. Moreover, the expression of MDM2 and CDK4 in whole tissue sections was compared with that in core-needle biopsy sections of the same tumor in order to determine whether real-time PCR could be used to distinguish ALT/WDL from lipoma at the preoperative stage. Results In whole tissue sections, the medians for MDM2 and CDK4 expression in ALT/WDL were higher than those in the lipomas (P < 0.05). Moreover, karyotype subdivisions with rings and/or giant chromosomes had higher MDM2 and CDK4 expression levels compared to karyotypes with 12q13-15 rearrangements, other abnormal karyotypes, and normal karyotypes (P < 0.05). On the other hand, MDM2 and CDK4 expression levels in core-needle biopsy sections were similar to those in whole-tissue sections (MDM2: P = 0.6, CDK4: P = 0.8, Wilcoxon signed-rank test). Conclusion Quantitative real-time PCR of total RNA can be used to evaluate the MDM2 and CDK4 expression levels in core-needle biopsies and may be useful for distinguishing ALT
Sertkaya, Mehmet; Emre, Arif; Pircanoglu, Eyüp Mehmet; Yazar, Fatih Mehmet; Tepe, Murat; Cengiz, Emrah; Isler, Ali; Vicdan, Halit
Intussusception in adults is very rarely seen, and this cause acute abdomen. A computed tomography (CT) scan, clinical suspicion, history, and a physical examination are important for the diagnosis. We present two cases of colonic intussusceptions induced by lipoma. The cases had similar locations, diagnoses, and management. Both lipomas were located close to the cecum in the ascending colon, and a right segmental colon resection was performed in both cases. The follow-up of both cases was uneventful. Although benign lesions can cause colonic intussusception, the high incidence of malignancy in colonic lesions should always be considered. Therefore, oncologic surgical procedures should be applied. The definitive diagnosis can be made by histopathology. Sertkaya M, Emre A, Pircanoglu EM, Yazar FM, Tepe M, Cengiz E, Isler A, Vicdan H. A Rare cause of Acute Abdomen: Diagnosis and Management of Adult Colonic Intussusception. Euroasian J Hepato-Gastroenterol 2016;6(2):179-182.
Cappellesso, Rocco; d'Amore, Emanuele S G; Dall'Igna, Patrizia; Guzzardo, Vincenza; Vassarotto, Elisa; Rugge, Massimo; Alaggio, Rita
Lipoblastoma (LB) is a rare benign adipocytic tumor of childhood occasionally showing histological similarities to myxoid liposarcoma (ML) or well-differentiated liposarcoma (WDL). p16 immunohistochemistry has proved to be useful in distinguishing various types of liposarcomas, in particular WDL from lipoma, with higher sensitivity and specificity than MDM2 and CDK4 immunohistochemistry. In this study, we reported the histologic features of a series of 30 LB with emphasis on the potential diagnostic pitfalls and investigated the immunohistochemical expression of p16. Moreover, p16 immunostaining was performed in 16 liposarcomas (11 WDL and 5 ML), 16 lipomas, and 16 cases of liponecrosis in order to evaluate its usefulness in the differential diagnosis of challenging lesions occurring in older children. Overall, p16 immunostaining was positive in 3 LBs and in 12 out of 16 liposarcomas (10 WDL and 2 ML), with a sensitivity of 75%, a specificity of 90%, a positive predictive value of 80%, and a negative predictive value of 87%. All lipomas were p16 negative, whereas 5 liponecroses were positive. Accounting altogether the benign lesions versus liposarcomas, p16 showed a sensitivity of 75%, a specificity of 87%, a positive predictive value of 60%, and a negative predictive value of 93%. Our data suggest that a negative p16 immunostaining may be helpful in excluding a liposarcoma when occurring in unusual clinical contexts, such as in adolescence or late recurrence. However, such finding should be interpreted with caution since also some liposarcomas lack p16 and occasional LBs are positive. Copyright © 2015 Elsevier Inc. All rights reserved.
Cattani, Nadja; Trueb, Swantje; de Lorenzo, Rosaria; Albertini, Mauro; Bontognali, Emanuele; Itin, Christoph; Schaub, Nathalie; Itin, Peter H.
Background and Aims. Benign skin tumors such as lipomas, fibromas, and epidermal cysts are among the extracolonic manifestations of familial adenomatous polyposis (FAP). Readily detectable by inspection, they could serve as presymptomatic diagnostic markers to identify FAP patients. We therefore prospectively determined the prevalence of cutaneous lesions in genetically confirmed adenomatous polyposis coli (APC) mutation carriers and assessed their potential usefulness in the identification of FAP patients. Methods. Whole-skin examination was performed in 56 adult APC mutation carriers, compared with a control group (n = 116). In addition, FAP patients were investigated for the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE), an established clinical marker for FAP, and a detailed review of medical records was performed. Results. Nearly half of all FAP patients (48.2%) had at least one FAP-associated skin lesion, compared with one third (34.5%) of controls. Only multiple lipomas and combined skin lesions were significantly more prevalent in APC mutation carriers. CHRPE was observed in 22 (43.1%) of 51 FAP patients, including 14 (37.8%) of 37 individuals with APC mutations outside the CHRPE-associated region between codons 311 and 1465. Conclusions. Despite a significantly higher prevalence of multiple lipomas, occurring at younger age, and combined skin lesions in APC mutation carriers, the low diagnostic sensitivity of FAP-associated skin lesions precludes their use as markers for FAP in clinical practice. Based on our findings, the common CHRPE-associated region should be extended to APC codons 148-2043. PMID:22135120
Arakaki, Kazunari; Chinen, Katsuya; Kamiya, Masuzo; Tanabe, Yasuka; Tawata, Natsumi; Ikehara, Fukino; Uehara, Karina; Shimabukuro, Hiroichi; Kinjo, Takao
Cellular angiofibroma (CAF) is a rare soft tissue tumor characterized by random arrangement of spindle tumor cells in the stroma with short collagen bundles and thick- and hyalinized small vessels. CAFs share histological characteristics with spindle cell lipomas and mammary type myofibroblastomas. Because these tumors harbor monoallelic 13q14, common genetic and molecular mechanism for tumorigenesis is presumed. In this study, we reported a case of CAF in a 69-year-old man with monoallelic 13q14. Immunohistochemical analysis revealed that FOXO1, which is located in chromosome 13q14, was not expressed in the tumor. We also detected oxidative stress markers and found p38 MAPK activation, which is often induced by cellular stressors such as reactive oxygen species (ROS). Because FOXO1 induces the expression of genes encoding enzymes that generate antioxidants, oxidative stress induced by loss of FOXO1 expression may be common among CAFs, spindle cell lipomas, and mammary type myofibroblastomas. PMID:25674275
Arakaki, Kazunari; Chinen, Katsuya; Kamiya, Masuzo; Tanabe, Yasuka; Tawata, Natsumi; Ikehara, Fukino; Uehara, Karina; Shimabukuro, Hiroichi; Kinjo, Takao
Cellular angiofibroma (CAF) is a rare soft tissue tumor characterized by random arrangement of spindle tumor cells in the stroma with short collagen bundles and thick- and hyalinized small vessels. CAFs share histological characteristics with spindle cell lipomas and mammary type myofibroblastomas. Because these tumors harbor monoallelic 13q14, common genetic and molecular mechanism for tumorigenesis is presumed. In this study, we reported a case of CAF in a 69-year-old man with monoallelic 13q14. Immunohistochemical analysis revealed that FOXO1, which is located in chromosome 13q14, was not expressed in the tumor. We also detected oxidative stress markers and found p38 MAPK activation, which is often induced by cellular stressors such as reactive oxygen species (ROS). Because FOXO1 induces the expression of genes encoding enzymes that generate antioxidants, oxidative stress induced by loss of FOXO1 expression may be common among CAFs, spindle cell lipomas, and mammary type myofibroblastomas.
Fedele, Monica; Visone, Rosa; De Martino, Ivana; Palmieri, Dario; Valentino, Teresa; Esposito, Francesco; Klein-Szanto, Andres; Arra, Claudio; Ciarmiello, Andrea; Croce, Carlo M; Fusco, Alfredo
HMGA1 gene rearrangements have been frequently described in human lipomas. In vitro studies suggest that HMGA1 proteins have a negative role in the control of adipocyte cell growth, and that HMGA1 gene truncation acts in a dominant-negative fashion. Therefore, to define better the role of the HMGA1 alterations in the generation of human lipomas, we generated mice carrying an Hmga1b truncated (Hmga1b/T) gene. These mice develop a giant phenotype together with a drastic expansion of the retroperitoneal and subcutaneous white adipose tissue. We show that the activation of the E2F pathway likely accounts, at least in part, for this phenotype. Interestingly, the Hmga1b/T mice also develop B-cell lymphomas similar to that occurring in Hmga1-knockout mice, supporting a dominant-negative role of the Hmga1b/T mutant also in vivo. Copyright © 2010 Elsevier Ltd. All rights reserved.
Chum, Helen H; Long, C Tyler; McKeon, Gabriel P; Chang, Angela G; Luong, Richard H; Albertelli, Megan A
An 10-y-old, intact male rhesus macaque (Macaca mulatta) presented for bilateral scrotal swelling and a distended abdomen. A soft mass in the left upper quadrant of the abdomen was palpated. A barium study did not reveal any gastrointestinal abnormalities. Exploratory laparotomy revealed a large (1.25 kg, 15.0 × 13.0 × 9.5 cm), red and tan, soft, circumscribed, spherical mass within the greater omentum and 10 to 20 smaller (diameter, 1 to 4 cm), soft to firm masses in the mesentery and greater omentum. The resected mass was a self-strangulating abdominal lipoma, a pedunculated neoplasm composed of white adipocytes arising from peritoneal adipose tissue undergoing secondary coagulation necrosis after strangulation of the blood supply due to twisting of the mass around the peduncle. The smaller masses were histologically consistent with simple or self-strangulating pedunculated abdominal lipomas. The macaque presented again 9 mo later with a firm, 5.0-cm mass in the midabdomen, with intestinal displacement visible on radiographs. Given this animal's medical history and questionable prognosis, euthanasia was elected. Necropsy revealed numerous, multifocal to coalescing, 1.0- to 15.0-cm, pale tan to yellow, circumscribed, soft to firm, spherical to ellipsoid, pedunculated masses that were scattered throughout the mesentery, greater omentum, lesser omentum, and serosal surfaces of the gastrointestinal tract. All of the masses were pedunculated abdominal lipomas, and most demonstrated coagulation necrosis due to self-strangulation of the blood supply. To our knowledge, this report is the first to describe abdominal lipomatosis with secondary self-strangulation of masses in a rhesus macaque. PMID:25402181
Chen, Jia-Hui; Wu, Jhe-Syun
A 36-year-old male was admitted with right lower abdominal pain and diarrhea for more than 3 mo. Colonoscopy and a barium enema study revealed a submucosal tumor over the cecum, but computed tomography showed an ileal lipoma. There was no definitive diagnosis preoperatively, but ileocolic intussusception was noted during surgery. Single port laparoscopic radical right hemicolectomy was performed because intra-operative reduction failed. The histological diagnosis of the resected tumor was lipoma. Single port laparoscopic surgery has recently been proven to be safe and feasible. There are advantages compared with conventional laparoscopic surgery, such as smaller incision wounds, fewer port site complications, and easier conversion. However, there are some drawbacks which need to be overcome, such as difficulties in triangulation and instrument clashing. If there are no contraindications to laparoscopy, single port laparoscopic surgery can be performed safely and should be considered for diagnosis and treatment of intussusception in adults. Here, we report the first case of ileocolic intussusception successfully treated by single port laparoscopic surgery. PMID:23538552
Tormey, Peter; Bilic Cace, Iva; Boyle, Michael A
Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp. In addition to these findings there was mild hypertelorism and an ocular abnormality on the right eye. An ophthalmology assessment on day 5 identified the ocular lesion as a limbal dermoid. Several ocular anomalies have been reported in association with Pai Syndrome, however, dermoids have not been frequently described in this Syndrome and not before in a limbal location. Increasing identification of previously unreported ocular abnormalities in Pai Syndrome may improve diagnosis and may prove useful in future work attempting to elucidate the aetiology of this rare syndrome. Copyright © 2017. Published by Elsevier Masson SAS.
Coleman, W P
Noncosmetic applications of liposuction have continued to appear since its introduction into the United States in 1982. Although the most common use is in removing lipomas, liposuction has also been used for benign symmetric lipomatosis, flap undermining, flap defatting, gynecomastia, pseudogynecomastia, breast reduction, buffalo hump, hypertrophic insulin lipodystrophy, lymphedema, evacuating hematomas, emergency neck defatting for airway restoration, and axillary hyperhidrosis. Other uses remain to be discovered.
O'Sullivan, Padraig; Ogbonnaya, Ebere; Kaliaperumal, Chandrasekaran; Marks, Charles
Haemangiopericytomas are a group of aggressive soft tissue sarcomas that originate from the pericytes in the walls of capillaries. Local invasion of the surrounding structures is not uncommon. Symptoms depend on the location, size and grade of tumour. Coexistence with a benign tumour in the same location is very rare. We report an interesting case of occipital scalp lipoma with an underlying torcular haemangiopericytoma and skull defect. PMID:23761505
Murphy, Siun M; Browne, Katherine; Tuite, David J; O'Shaughnessy, Michael
We report an unusual case of synchronous pathology in the forearm- the coexistence of a large lipoma of the median nerve together with an osteochondroma of the proximal ulna, giving rise to a dual proximal median nerve compression. Proximal median nerve compression neuropathies in the forearm are uncommon compared to the prevalence of distal compression neuropathies (eg Carpal Tunnel Syndrome). Both neural fibrolipomas (Refs. 1,2) and osteochondromas of the proximal ulna (Ref. 3) in isolation are rare but well documented. Unlike that of a distal compression, a proximal compression of the median nerve will often have a definite cause. Neural fibrolipoma, also called fibrolipomatous hamartoma are rare, slow-growing, benign tumours of peripheral nerves, most often occurring in the median nerve of younger patients. To our knowledge, this is the first report of such dual pathology in the same forearm, giving rise to a severe proximal compression of the median nerve. In this case, the nerve was being pushed anteriorly by the osteochondroma, and was being compressed from within by the intraneural lipoma. This unusual case highlights the advantage of preoperative imaging as part of the workup of proximal median nerve compression. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
Salemis, Nikolaos S; Nisotakis, Konstantinos; Patouras, Paraskevas; Karagkiouzis, Grigorios; Gourgiotis, Stavros
The authors describe a case of a giant retroperitoneal liposarcoma that extended into the thigh along the course of the iliopsoas muscle. The tumor was successfully excised en bloc through an abdominal and a proximal thigh incision. Histopathologic examination revealed a well-differentiated, lipoma-like liposarcoma with clear surgical margins. The patient remains well without any evidence of tumor recurrence 18 months after surgery. Copyright © 2011 Elsevier Inc. All rights reserved.
Scott, Kathleen E; Frydman, Galit; Fox, James G; Bakthavatchalu, Vasudevan
Here we report the case of a urinary bladder leiomyoma in a rhesus macaque. The animal was clinically normal and had a lipoma localized to the stifle. Endovesicular leiomyomas are the most common form of urinary bladder leiomyoma in humans. In contrast, this macaque's tumor exhibited extravesicular localization in the bladder. Urinary bladder leiomyomas account for less than 0.5% of all bladder tumors in humans, with only 250 cases reported in total.
Vasconcelos, Juliana S. P.; Gharaibeh, Faris; Nittinger, Hans-Christoph
Lipomas and their variants are benign soft-tissue tumors that occur at any age and most frequently on the upper back and neck, shoulder, and abdomen. The foot is a relatively uncommon site for soft-tissue neoplasia and the etiology is not usually related to trauma. We describe a case of a pedunculated fibrolipoma of the forefoot that originated from a cut wound at the Atlantic Ocean. A brief review of the literature is also given. PMID:24455388
Liposarcoma is an extremely rare malignant adipose mesenchymal tumor. World Health Organization classifies liposarcomas into five subtypes: well differentiated, myxoid, pleomorphic, dedifferentiated and mixed. The association between multiple and synchronous location of several subtypes of liposarcomas is exceptional. Only 34 cases have been reported in the literature. We report the case of synchronous association between retroperitoneal dedifferentiated liposarcoma and two small well-differentiated lipoma-like pericolic liposarcomas. Anatomopathological aspects, therapeutic options and prognostic factors of liposarcomas have been reviewed in this study.
CORAN, ALESSANDRO; ORTOLAN, PAOLO; ATTAR, SHADY; ALBERIOLI, ENRICO; PERISSINOTTO, EGLE; TOSI, ANNA LISA; MONTESCO, MARIA CRISTINA; ROSSI, CARLO RICCARDO; TROPEA, SAVERIA; RASTRELLI, MARCO; STRAMARE, ROBERTO
To establish the accuracy of magnetic resonance imaging (MRI) in distinguishing between benign and malignant lipomatous tumors; to evaluate the reproducibility of the MRI interpretation assessing the agreement between judgments of two radiologists with the same experience in soft-tissue sarcomas; to identify an association among MRI findings (size, depth, septa, nodules, signal homogeneity) and nature of the lesion. Materials and Methods: A total of 54 patients (28 men and 26 women), with a mean age of 56 (range=27-84) were included years. All subjects followed-up by the Multidisciplinary Sarcoma Group. The following MRI findings were judged in a blind study by two radiologists: size, localization, septa, nodules and signal homogeneity. A diagnostic indication was then given from among lipoma, atypical lipomatous tumour (ALT) and liposarcoma. Accuracy in distinguishing between benign and malignant lesions, and between lipoma and ALT (Fisher’s exact test), inter-operator agreement (Cohen’s kappa), association of MRI findings and malignancy of the lesion (Fisher’s exact test and odds ratio) were evaluated. Results: The inter-operator agreement was complete (100%). The agreement between diagnostic hypothesis and histological diagnosis was statistically significant (p<0.05). Among the radiological findings taken into account, only septa and signal homogeneity were significantly associated with the malignancy of the lesion (p<0.05). Conclusion: MRI could be helpful in distinguishing lipomatous tumors, allowing biopsy to be avoided in some cases (negative predictive value=100%). PMID:28438867
Coran, Alessandro; Ortolan, Paolo; Attar, Shady; Alberioli, Enrico; Perissinotto, Egle; Tosi, Anna Lisa; Montesco, Maria Cristina; Rossi, Carlo Riccardo; Tropea, Saveria; Rastrelli, Marco; Stramare, Roberto
To establish the accuracy of magnetic resonance imaging (MRI) in distinguishing between benign and malignant lipomatous tumors; to evaluate the reproducibility of the MRI interpretation assessing the agreement between judgments of two radiologists with the same experience in soft-tissue sarcomas; to identify an association among MRI findings (size, depth, septa, nodules, signal homogeneity) and nature of the lesion. A total of 54 patients (28 men and 26 women), with a mean age of 56 (range=27-84) were included years. All subjects followed-up by the Multidisciplinary Sarcoma Group. The following MRI findings were judged in a blind study by two radiologists: size, localization, septa, nodules and signal homogeneity. A diagnostic indication was then given from among lipoma, atypical lipomatous tumour (ALT) and liposarcoma. Accuracy in distinguishing between benign and malignant lesions, and between lipoma and ALT (Fisher's exact test), inter-operator agreement (Cohen's kappa), association of MRI findings and malignancy of the lesion (Fisher's exact test and odds ratio) were evaluated. The inter-operator agreement was complete (100%). The agreement between diagnostic hypothesis and histological diagnosis was statistically significant (p<0.05). Among the radiological findings taken into account, only septa and signal homogeneity were significantly associated with the malignancy of the lesion (p<0.05). MRI could be helpful in distinguishing lipomatous tumors, allowing biopsy to be avoided in some cases (negative predictive value=100%). Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
Antonini, Gabriele; Vicini, Patrizio; De Berardinis, Ettore; Pacchiarotti, Arianna; Gentile, Vincenzo; Perito, Paul
Fibrolipomas are an infrequent type of lipomas. We describe a case of a man suffering from subcutaneous penile fibrolipoma, who twelve months earlier has been submitted to augmentative phalloplasty due to aesthetic dysmorphophobia. The same patient three years earlier has been submitted to three-component hydraulic penile prostheses implantation due to erectile dysfunction. After six months from removing of the mass, the penile elongation and penile enlargement were stable, the prostheses were correctly functioning and the patient was satisfied with his sexual intercourse and life. The diagnostics and surgical characteristics of this case are reported.
Tlougan, Brook E; Gonzalez, Mercedes E; Orlow, Seth J
A six-week-old girl presented with a segmental, focally atrophic, vascular patch in the diaper area, present since birth. It had undergone minimal proliferation, but had ulcerated. Evaluation to rule out LUMBAR (Lower body hemangioma/Lipoma or other cutaneous anomalies, Urogenital anomalies, Myelopathy, Bony deformities, Anorectal/Arterial anomalies, and Renal anomalies) syndrome, which included ultrasound and Doppler examination of the abdomen, spine, and pelvis, was negative. We report a unique case of an ulcerated, segmental abortive hemangioma of the anogenital area with excellent clinical response to topical timolol gel.
PILONIDAL CYST /ABSCESS TURN PAGE LEFT PtS7 OF & CED GENERAL TASK BC(KLET TASK N-. I ENTEO RESPONSES TO STATEmENTS PELOo I’! LEFT SIIE ’F Oij, 03 ( fF PESP7...NSE BrKLET I IPRESCPIBE TREATMENT FOR PILO\\IOAL CYST /49SCESS 2 IOBSEQVE FrC/REPORT SYMPTOMS OF INTESTINAL wCtS 3 IMAKE PRELIMINARY DIEGNOSIS CF A4EIC...INGROWN NAIL 45 IEXTRACT SEBACEOUS MATERIAL FROM COMEDO 46 ITRIM CORNS/CALLUSES 47 IEXCISE SEBACEOUS CYST /LIPOMA 48 IEXCISE POLYP 49 IGIVE CARE TO BURN
Lederer, Damien; Wilson, Brian; Lefesvre, Pierre; Poorten, Vincent Vander; Kirkham, Nigel; Mitra, Dipayan; Verellen-Dumoulin, Christine; Devriendt, Koenraad
Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome. Copyright © 2012 Wiley Periodicals, Inc.
Sims, Shireen Madani; Stinson, Kathryn; McLean, Frederick W; Davis, John D; Wilkinson, Edward J
Angiomyofibroblastoma (AMF) is a benign mesenchymal tumor usually found in the vulva. We reviewed 70 cases of vulvar AMF that have been reported in the English-language literature and report 1 case of a pedunculated variant. Our case brings the total reported to 71 and is only the fourth pedunculated variant reported. This 50-year-old woman presented to our gynecology clinic with a 1-year history of a left labial mass. It began as pea-sized, and rapidly grew to 12 cm in diameter. Physical examination demonstrated a 12-cm pedunculated soft mass arising from the left labia majora. The clinical diagnosis was aggressive angiomyxoma, and a simple excision was performed. The final pathology demonstrated AMF. The patient remains free from tumor at 4 years of follow-up. Seventy-one cases were summarized. The mean age at presentation was 45 years. The lesions were equally distributed between the left (52%) and right (48%). The most common clinical diagnosis was a Bartholin gland cyst (46%) or lipoma (15%). The mean duration of the lesion before seeking treatment was 29 months, and the mean diameter at presentation was 5.9 cm. All of the patients were treated with simple excision. The mean duration of follow-up was 37 months. There was 1 report of sarcomatous transformation 2 years after initial treatment. Angiomyofibroblastoma is a rare benign tumor that most often occurs in the vulva. Differential diagnosis may include aggressive angiomyxoma, Bartholin cyst, or lipoma. The treatment of choice is simple total excision, which is usually curative.
Ghosh, Prithwijit; Saha, Kaushik
Molluscum contagiosum (MC) is a viral infection of skin and mucous membrane commonly affecting the adolescents and young adults. Extensive lesions are usually common in immunocompromised patients. We herein report a rare case of molluscum contagiosum in an epidermoid cyst (EC) in a 24-year-old immunocompetent male. The provisional clinical diagnosis was inflammed epidermoid cyst or lipoma. On histopathological examination, the lesion displayed a unilocular epidermoid cyst in deep dermis, the lining of which was infected by molluscum contagiosum virus with characteristic inclusions. The overlying epidermis was absolutely normal having no attachment with the cyst.
Guo, Shang; Lopez-Marquez, Hector; Fan, Kenneth C.; Choy, Edwin; Cote, Gregory; Harmon, David; Nielsen, G. Petur; Yang, Cao; Zhang, Changqing; Mankin, Henry; Hornicek, Francis J.; Borger, Darrell R.; Duan, Zhenfeng
While liposarcoma is the second most common soft tissue malignant tumor, the molecular pathogenesis in this malignancy is poorly understood. Our goal was therefore to expand the understanding of molecular mechanisms that drive liposarcoma and identify therapeutically-susceptible genetic alterations. We studied a cohort of high-grade liposarcomas and benign lipomas across multiple disease sites, as well as two liposarcoma cell lines, using multiplexed mutational analysis. Nucleic acids extracted from diagnostic patient tissue were simultaneously interrogated for 150 common mutations across 15 essential cancer genes using a clinically-validated platform for cancer genotyping. Western blot analysis was implemented to detect activation of downstream pathways. Liposarcoma cell lines were used to determine the effects of PI3K targeted drug treatment with or without chemotherapy. We identified mutations in the PIK3CA gene in 4 of 18 human liposarcoma patients (22%). No PIK3CA mutations were identified in benign lipomas. Western blot analysis confirmed downstream activation of AKT in both PIK3CA mutant and non-mutant liposarcoma samples. PI-103, a dual PI3K/mTOR inhibitor, effectively inhibited the activation of the PI3K/AKT in liposarcoma cell lines and induced apoptosis. Importantly, combination with PI-103 treatment strongly synergized the growth-inhibitory effects of the chemotherapy drugs doxorubicin and cisplatin in liposarcoma cells. Taken together, these findings suggest that activation of the PI3K/AKT pathway is an important cancer mechanism in liposarcoma. Targeting the PI3K/AKT/pathway with small molecule inhibitors in combination with chemotherapy could be exploited as a novel strategy in the treatment of liposarcoma. PMID:24695632
Dietz, J; Heckers, K O; Aupperle, H; Pees, M
Cutaneous and subcutaneous soft tissue tumours have been rarely described in detail in snakes. Several malignant entities show strikingly similar histological patterns and therefore the term soft tissue sarcoma (STS) has become a standard histopathological diagnosis. The present study characterizes soft tissue tumours in 33 snakes. Samples included 29 surgically excised masses and four carcasses. Additionally, six animals were humanely destroyed and submitted for necropsy examination following tumour recurrence. Benign neoplasms (n = 8) were described as lipomas of varying differentiation. Recurrence was observed in two of five snakes in which the clinical course was recorded. Malignant neoplasms (n = 25) were diagnosed as STS and graded according to a three-point system previously applied to canine STS. Five (20%) of the primary tumours were classified as grade 1, eleven (44%) as grade 2 and nine (36%) as grade 3 sarcomas. Clinically, recurrence of STS was observed in 11 of 17 cases with available follow-up information. Pathologically, multiple cutaneous metastases were found in one grass snake (Natrix natrix), while visceral metastases were observed in one carpet python (Morelia spilota) and two corn snakes (Pantherophis guttatus). Metastatic risk appears to increase with histological grade. Surgical excision generally represents the current therapy of choice for STS. This study includes the first reports of conventional lipomas in a ribbon snake (Thamnophis radix), angiolipomas in a black-headed python (Aspidites melanocephalus) and a corn snake as well as of STS in a Jamaican boa (Epicrates subflavus), emerald tree boa (Corallus caninus), grass snake (N. natrix), African house snake (Lamprophis fuliginosus), California kingsnake (Lampropeltis getula californiae) and common garter snake (Thamnophis sirtalis). Copyright © 2016 Elsevier Ltd. All rights reserved.
Cellular angiofibroma is a benign vascular neoplasm that typically arises in the vulva, perineal, and paratesticular region. Microscopically the lesions exhibit multiple small, non-dilated capillary channels, many of which contain erythrocytes. The endothelial lining cells are prominent, with monomorphic oval nuclei. Interposed among the vessels are both delicate and mature collagen fibers with fibroblastic hypercellularity that is variable in older lesions where sclerosis is prominent. The lesions usually do not recur following simple excision. Recent evidence indicates that cellular angiofibromas may be cytogenetically related to spindle cell lipoma. This represents the first reported instances of cellular angiofibroma in the oral cavity. PMID:19644547
Alexander, Thomas B; McGee, Rose B; Kaye, Erica C; McCarville, Mary Beth; Choi, John K; Cavender, Cary P; Nichols, Kim E; Sandlund, John T
Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early-onset malignancies of the blood, brain, and intestinal tract. We present the case of a patient with T-lymphoblastic lymphoma at the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD. © 2016 Wiley Periodicals, Inc.
Al-Ani, Zeid; Fernando, Malee; Wilkinson, Victoria; Kotnis, Nikhil
Deep-seated, low-grade lipomatous lesions detected on imaging often cause uncertainty for diagnosis and treatment. Confidently distinguishing lipomas from well-differentiated liposarcomas is often not possible on imaging. The approach to management of such lesions varies widely between institutions. Applying an evidenced-based approach set around published literature that clearly highlights how criteria such as lesion size, location, age and imaging features can be used to predict the risk of well-differentiated liposarcomas and subsequent de-differentiation would seem sensible. Our aim is to review the literature and produce a unified, evidence-based guideline that will be a useful tool for managing these lesions.
Introduction Paragonimiasis is a food-borne infection caused by Paragonimus parasites. The lungs and pleura are the primary sites for the infection; however, ectopic infection can occur in other organs such as skin, liver and brain. It is difficult to make a diagnosis of ectopic paragonimiasis due to an ignorance of, and unfamiliarity with the disease. We report the case of a patient with subcutaneous paragonimiasis diagnosed by histopathological analysis and serological testing. Case presentation A 39-year-old Chinese immigrant woman presented with a subcutaneous nodule in her left lower back. The nodule was initially suspected of lipoma and she was followed up on without any treatment. However, it gradually indurated and the nodule was resected surgically. A magnetic resonance imaging scan revealed a polycystic lesion with inhomogeneous low or high intensity on T1- or T2-weighted images, respectively. The rim of the lesion was enhanced after contrast enhancement, but the inside did not show high-signal intensity. A histological analysis of the surgically resected specimen revealed variable-sized tubulo-cystic structures. The cyst wall showed a granulomatous change with scant eosinophilic infiltration. A number of parasite ova were observed in the necrotic tissue inside the cysts, and a parasite body with a presumed oral sucker and reproductive organ was also detected, suggesting a trematode infection. A subsequent serological examination showed a positive reaction of her serum to the Paragonimus westermani antigen. No abnormal findings were found on her chest computed tomography scan. The diagnosis of subcutaneous paragonimiasis caused by Paragonimus westermani was made. Conclusions We report a case presenting only as a non-migratory subcutaneous nodule without any pleuropulmonary lesion, which was initially suspected of lipoma but denied by magnetic resonance imaging scan results. The case was subsequently diagnosed as subcutaneous paragonimiasis from the
Alho, A; Skjeldal, S; Pettersen, E O; Melvik, J E; Larsen, T E
Aneuploidy in DNA flow cytometry (FCM) of musculoskeletal tumors is generally considered to be a sign of malignancy. Previously, giant cell tumor of the bone has been reported to contain aneuploid (near-diploid) DNA stemlines. Otherwise, only spordic cases have been reported. The authors wanted to study the relationships among DNA FCM, histology, and clinical course of nonmalignant musculoskeletal lesions. Twenty-eight histologically benign tumors and seven nonneoplastic lesions were subjected to DNA FCM: After tissue preparation mechanically and with ribonuclease and trypsin, the isolated nuclei were stained with propidium iodine using chicken and rainbow trout erythrocytes as controls. In the DNA FCM histograms, ploidy and cell cycle fractions were determined using a computerized mathematical model. The histologic diagnoses were made without knowledge of the DNA FCM results. Aneuploidy was found in eight lesions. A shoulder in the diploid peak, suggesting a diploid and a near-diploid population, was found in DNA histograms of a condensing osteitis of the clavicle (a benign inflammatory process) and of a giant cell tumor of bone. The latter lesion also had a tetraploid population. Six benign tumors--two enchondromas, one osteochondroma, one subcutaneous and one intramuscular lipoma, and a calcifying aponeurotic fibroma--showed clear aneuploidy with separate peaks. The S-phase fraction was less than 10% in all cases. The highest aneuploid population, DNA index = 1.70, in a subcutaneous lipoma, was small, with an undetectable S phase. Despite nonradical operations in seven lesions, no recurrences were observed during a median follow-up of 49 months (range, 28-73 months). Small aneuploid populations with low DNA synthetic activity may be compatible with a benign histologic picture and uneventful clinical course of the musculoskeletal lesion.
Boro, Aleksandar; Bauer, David; Born, Walter; Fuchs, Bruno
Atypic lipomatous tumors (ALT) and dedifferentiated liposarcomas (DDLS) are closely related liposarcoma subtypes, often difficult to distinguish but they exhibit an entirely different clinical outcome. Recently discovered regulatory functions of miRNAs in liposarcoma progression prompted us to investigate miRNAs as potential diagnostic biomarkers in liposarcoma with a main focus on circulating miRNAs for fast and reliable differential diagnosis. Tumor and blood samples of 35 patients with lipomatous lesions collected between June 2011 and September 2014 were analyzed by qRT-PCR. They included 10 lipomas, 7 ALT, 5 DDLS and 13 myxoid liposarcomas (MLS). Ten samples of normal fat tissue and blood from 20 healthy volunteers were used as controls. A meta-analysis of public data on miRNA expression in liposarcoma revealed 9 miRNAs with potential diagnostic power. Out of these, miRNA-155 was found significantly elevated in the circulation of DDLS patients as compared to the plasma levels detected in all other liposarcoma subtypes and in healthy subjects. miRNA-155 levels in the plasma samples correlated significantly (r=0.41, p=0.02) with those in corresponding tumor extracts. This correlation was even more pronounced in an analysis of plasma and tumor extracts of malignant liposarcoma subtypes alone (r=0.51, p=0.02). Receiver operating characteristic analysis indicated that plasma miRNA-155 levels have a high diagnostic accuracy for distinguishing DDLS from healthy subjects (AUC=0.91, p=0.005) and from lipomas (AUC=0.86, p=0.02), MLS (AUC=0.92, p=0.006) and most importantly ALT (AUC=0.91, p=0.01) patients. In conclusion, this study identified miRNA-155 as a first blood biomarker for the differential diagnosis of DDLS. PMID:27186423
Kashima, T G; Turley, H; Dongre, A; Pezzella, F; Athanasou, N A
Adipocyte P2 (aP2), also known as fatty acid-binding protein 4 (FABP4), is a fatty acid-binding protein found in the cytoplasm of cells of adipocyte differentiation. In this study, we examined a large number of soft tissue tumours with a commercial polyclonal anti-aP2/FABP4 antibody and a newly developed mouse monoclonal antibody raised against this protein to determine the diagnostic utility of aP2/FABP4 as a marker of tumours of adipose differentiation. A mouse monoclonal antibody, clone 175d, was raised against a mixture of synthetic peptides corresponding to the amino acid sequence of residues 10-28 and 121-132 of the human aP2/FABP4 protein. Antigen expression with polyclonal and monoclonal antibodies was immunohistochemically determined in paraffin sections of normal adipose tissue and a wide range of benign and malignant primary soft tissue tumours (n = 200). aP2/FABP4 was expressed around the cytoplasmic lipid vacuole in white and brown fat cells in benign lipomas and hibernomas. Immature fat cells and lipoblasts in spindle cell/pleomorphic lipoma, atypical lipomatous tumour/well-differentiated liposarcoma, myxoid/round cell liposarcoma and pleomorphic liposarcoma also reacted strongly for aP2/FABP4. No specific staining was seen in non-adipose benign and malignant mesenchymal and non-mesenchymal tumours. aP2/FABP4 is expressed by mature and immature fat cells and is a marker of tumours of adipose differentiation. Immunophenotypic aP2/FABP4 expression is useful in identifying lipoblasts, and immunohistochemistry with polyclonal/monoclonal anti-aP2/FABP4 antibodies should be useful in distinguishing liposarcoma from other malignancies, particularly round cell, myxoid and pleomorphic soft tissue sarcomas.
Rubay, J; Barreau, J
The authors report their surgical experience of benign gastric tumors between 1947 and 1972: 19 cases (18 patients) were operated, which represent 3, 5% of the operated malignant tumors. Distribution was as follows: 6 polyps, 4 schwannomas, 4 accessory pancreases, 4 leiomyomas, 1 lipoma plus one leiomyoma of the ampula of Vater. The authors recall the symptomatology and roentgenological aspect of these tumors. They point out the growing importance of fibroscopy. They insist on the connexion between these tumors and carcinomas: this is clear for schwannomas and polyps where volume is a determining feature. Resection can be limited where there is no danger of malignant change. Though unquestionalbe, the malignancy of polyps is less than that of classical carcinomas.
Spindle cell lesions of the breast cover a wide spectrum of diseases ranging from reactive tumor-like lesions to high-grade malignant tumors. The recognition of the benign spindle cell tumor-like lesions (nodular fasciitis; reactive spindle cell nodule after biopsy, inflammatory pseudotumor/inflammatory myofibroblastic tumor; fascicular variant of pseudoangiomatous stromal hyperplasia) and tumors (myofibroblastoma, benign fibroblastic spindle cell tumor, leiomyoma, schwannoma, spindle cell lipoma, solitary fibrous tumor, myxoma) is crucial to avoid confusion with morphologically similar but more aggressive bland-appearing spindle cell tumors, such as desmoid-type fibromatosis, low-grade (fibromatosis-like) spindle cell carcinoma, low-grade fibrosarcoma/myofibroblastic sarcoma and dermatofibrosarcoma protuberans. Copyright © 2017 Elsevier Inc. All rights reserved.
Castro, Patrícia F.; Fantoni, Denise T.; Miranda, Bruna C.; Matera, Julia M.
Neoplastic disease is common in pet birds, particularly in psittacines, and treatment should be primarily aimed at tumor eradication. Nineteen cases of pet birds submitted to diagnostic and/or therapeutic surgical procedures due to neoplastic disease characterized by the presence of visible masses were retrospectively analyzed; affected species, types of neoplasms and respective locations, and outcomes of surgical procedures were determined. All birds undergoing surgery belonged to the order Psittaciformes; the Blue-fronted parrot (Amazona aestiva) was the prevalent species. Lipoma was the most frequent neoplasm in the sample studied. Most neoplasms affected the integumentary system, particularly the pericloacal area. Tumor resection was the most common surgical procedure performed, with high resolution and low recurrence rates. PMID:26981315
Fryburg, J S; Pelegano, J P; Bennett, M J; Bebin, E M
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.
Mechtler, Laszlo L; Nandigam, Kaveer
Spinal cord tumors are uncommon neoplasms that, without treatment, can cause significant neurologic morbidity and mortality. The historic classification of spine tumors is based on the use of myelography with 3 main groups: (1) extramedullary extradural, (2) intradural extramedullary, and (3) intradural intramedullary. This chapter focuses on intramedullary spinal cord tumors (ISCTs), with an emphasis on new diagnostic imaging modalities and treatment options. The common ISCTs include ependymoma, astrocytoma and hemangioblastoma, which together account for over 90% of primary ISCTs. Rare tumors such as gangliglioma, oligodendroglioma, paraganglioma, melanocytoma, lipoma, and primary spinal cord lymphoma are also included in this review, in addition to spinal cord metastatic disease. Copyright © 2013 Elsevier Inc. All rights reserved.
Furtschegger, A; Sandbichler, P; Judmaier, W; Gstir, H; Steiner, E; Egender, G
We evaluated the use of sonography as a means of assessing hernial occlusion and possible postoperative changes such as hematomas or seromas in the inguinal and scrotal regions after 1139 laparoscopic repairs of hernias between August 1992 and November 1994. Changes after laparoscopic hernia repair were found in 307 patients (27%). Hematomas or seromas were seen in 132 patients, protrusion of the prosthetic mesh in 17, mesh infection in two, and small bowel entrapment in an insufficient peritoneal suture in two. Recurrences were diagnosed correctly in six patients, mobile preperitoneal lipomas in five. Sonography is useful in the evaluation of complications after laparoscopic hernia repair, including recurrent hernia. In the absence of symptoms, sonography is not indicated.
Patanè, Salvatore; Marte, Filippo
The discovery of a left ventricular mass obliges the clinician to perform a differential diagnosis including tumour or lipoma versus thrombus and its assessment presents important clinical implications. Dilated cardiomyopathy has been associated with left ventricular thrombosis which leads to substantial morbidity and mortality as a site for peripheral emboli. There are some studies on patients with dilated cardiomyopathy showing altered hemostasis and platelet behavior despite sinus rhythm. An increased incidence of thromboembolism is also well recognized in patients with left ventricular systolic dysfunction complicating history of myocardial infarction. Clinical dilemmas in treating left ventricular thrombus have been described too. We present a case of a large mobile left ventricular thrombus in a 71-year-old Italian man with dilated cardiomyopathy and history of myocardial infarction.
Urdaneta Carruyo, Eliéxer; Rojas Zerpa, Gustavo; Urdaneta Contreras, Adriana; Maldonado Alviarez, Malvy; Brito Rodríguez, Miguel
The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding. Sociedad Argentina de Pediatría.
Rajendran, R. Samuel; Shen, Chia-Ning; Chen, Te-Hao; Yen, Chueh-Chuan; Chuang, Chih-Kuang; Lin, Dar-Shong; Hsiao, Chung-Der
Background Obesity is a complex, multifactorial disorder influenced by the interaction of genetic, epigenetic, and environmental factors. Obesity increases the risk of contracting many chronic diseases or metabolic syndrome. Researchers have established several mammalian models of obesity to study its underlying mechanism. However, a lower vertebrate model for conveniently performing drug screening against obesity remains elusive. The specific aim of this study was to create a zebrafish obesity model by over expressing the insulin signaling hub of the Akt1 gene. Methodology/Principal Findings Skin oncogenic transformation screening shows that a stable zebrafish transgenic of Tg(krt4Hsa.myrAkt1)cy18 displays severely obese phenotypes at the adult stage. In Tg(krt4:Hsa.myrAkt1)cy18, the expression of exogenous human constitutively active Akt1 (myrAkt1) can activate endogenous downstream targets of mTOR, GSK-3α/β, and 70S6K. During the embryonic to larval transitory phase, the specific over expression of myrAkt1 in skin can promote hypertrophic and hyperplastic growth. From 21 hour post-fertilization (hpf) onwards, myrAkt1 transgene was ectopically expressed in several mesenchymal derived tissues. This may be the result of the integration position effect. Tg(krt4:Hsa.myrAkt1)cy18 caused a rapid increase of body weight, hyperplastic growth of adipocytes, abnormal accumulation of fat tissues, and blood glucose intolerance at the adult stage. Real-time RT-PCR analysis showed the majority of key genes on regulating adipogenesis, adipocytokine, and inflammation are highly upregulated in Tg(krt4:Hsa.myrAkt1)cy18. In contrast, the myogenesis- and skeletogenesis-related gene transcripts are significantly downregulated in Tg(krt4:Hsa.myrAkt1)cy18, suggesting that excess adipocyte differentiation occurs at the expense of other mesenchymal derived tissues. Conclusion/Significance Collectively, the findings of this study provide direct evidence that Akt1 signaling plays an important role in balancing normal levels of fat tissue in vivo. The obese zebrafish examined in this study could be a new powerful model to screen novel drugs for the treatment of human obesity. PMID:22623957
Shpitz, Baruch; Kuriansky, Josef; Werener, Miriam; Osadchi, Alexandra; Tiomkin, Vitaly; Bugayev, Nikolay; Klein, Ehud
Minimally invasive laparoscopic total extraperitoneal (LTEP) repair of bilateral and/or recurrent groin hernias has been popularized as one of the procedures of choice in the past decade. The early postoperative course is uneventful in most cases. A few patients, however, will develop temporary postoperative groin swelling. The aim of our study was to evaluate clinical and sonographic findings in the groin during the early postoperative period following LTEP. One hundred and five consecutive patients with primary bilateral (n = 90), recurrent unilateral (n = 12), and primary unilateral (n =3) groin hernias operated on during an 18-month period underwent clinical and sonographic examination two to three weeks after LTEP. On clinical examination, a localized groin swelling was found in 21 patients (20%). The most frequent sonographic findings were localized groin collections compatible with seroma or hematoma, found in 35 patients (33%). Hypoechoic diffuse tissue swelling around the mesh, lipomas, and residual hernias was found in four patients each (4%). None of the patients with hypoecoic mass had any clinical manifestations postoperatively. Extraperitoneal close suction drains were left for 8-12 hours in 46 patients. The average volume of fluid drained was 62 mL (range, 30-200 mL). There was no correlation between the use of suction drains and the frequency of fluid collections detected on sonography. Cord lipoma was detected postoperatively in four patients and was excised in one using an open anterior approach. Residual or recurrent hernia was detected postoperatively on sonography in four patients, but only one developed a symptomatic and clinically detectable hernia during eight months of follow-up. Overall, postoperative ultrasonographic findings following LTEP repair were found in 37% of patients. Clinical and sonographic findings such as localized fluid collections compatible with seroma or hematoma are common following LTEP. Postoperative suction drains
Jayaswal, Arvind; Kandwal, Pankaj; Goswami, Ankur; Vijayaraghavan, G; Jariyal, Ashok; Upendra, B N; Gupta, Ankit
To evaluate clinical and radiological outcomes of growing rod (GR) in the management of Early Onset Scoliosis (EOS) with intraspinal anomalies. The effect of repeated distractions following GR, in the presence of intraspinal anomalies has not been studied. During 2007-2012, 46 patients underwent fusionless surgery. Out of these 46 patients, 13 patients had one or more intraspinal anomalies. 11 patients had undergone prior neurosurgical procedure while 2 (filum terminale lipoma and syringomyelia) did not. A total of 88 procedures were conducted during the treatment period; 13 index surgeries, 74 distractions of GR and 1 unplanned surgery. The age at surgery was 6.8 ± 2.5 years (3.5-12 years). 11 patients had congenital scoliosis and 2 had idiopathic scoliosis. A total of 19 (41.30 %) intraspinal anomalies [Tethered Cord Syndrome (TCS) 08, Split Cord Malformation (SCM) 08, Syringomyelia 01, Meningomyelocele 01, Filum terminale Lipoma 01] were seen. The average lengthening procedures per patient were 5.7 (4-9) with distraction interval of 6.7 (6-7.25) months. Pre-operative Cobb angle was 78.50 ± 18.1 (54-114°) and improved to 53.10 ± 16.70 (36-84°) at final follow-up. A total of 15 complications related to implant (9), wound (2), anesthesia (2) and neurological (2) occurred in 7 patients. Among the two neurological complications, one patient sustained fall in the post-op period and reported to the emergency department with paraplegia and broken proximal screw. While other patient experienced MEP changes during index procedure. None of the patients had any neurological complications during repeated lengthening procedures. The most common cord anomalies associated with EOS in our study are TCS and SCM. Although presence of previous intraspinal anomaly does not seem to increase the incidence of neurological deficit, use of neuromonitoring is advisable for all index procedure and selected distractions. Level 4 (case series).
Beltran, K; Herbst, K L
People with lipedema or Dercum's disease (DD) can have a similar distribution of excess painful nodular subcutaneous adipose tissue (SAT), making them difficult to differentiate. Case series of 94 patients with DD, 160 with lipedema and 18 with both diagnoses (Lip+DD) from a single clinic in an academic medical center to improve identification and differentiation of these disorders by comparison of clinical findings, prevalence of type 2 diabetes (DM2), hypermobility by the Beighton score and assessment of a marker of inflammation, Total complement activity (CH50). Differences between groups were by Student's t-test with α of 0.05. The Lipedema Group had significantly greater weight, body mass index (BMI), gynoid distributed nodular SAT and fibrotic and heavy tissue than the DD Group. Hypermobility was significantly higher in the Lipedema (58±0.5%) than DD Group (23±0.4%; P<0.0001). DM2 was significantly greater in the DD (16±0.2%; P=0.0007) than the Lipedema Group (6±0.2%). Average pain by an analog scale was significantly higher in the DD (6±2.5%) than the Lipedema Group (4±2.1%; P<0.0001). Fatigue and swelling were common in both groups. Easy bruising was more common in the Lipedema Group, whereas abdominal pain, shortness of breath, fibromyalgia, migraines and lipomas were more prevalent in the DD Group. The percentage of patients with elevated CH50 was significantly positive in both groups. The significantly lower prevalence of DM2 in people with lipedema compared with DD may be due to the greater amount of gynoid fat known to be protective against metabolic disorders. The high percentage of hypermobility in lipedema patients indicates that it may be a comorbid condition. The location of fat, high average daily pain, presence of lipomas and comorbid painful disorders in DD patients may help differentiate from lipedema.
de Agustín, J C; Alami, H; Lassaletta, L; Gámez, M; Fernández, A; Fraile, E; Alenda, J G; Rollán, V; Utrilla, J G
We review our experience with Magnetic Resonance Imaging (MRI) in the evaluation of 6 patients showing anorectal malformation, and 4 more with persistent postoperative fecal incontinence. Preoperative sagittal, axial and coronal planes were studied with special consideration to the pelvic and vertebral structures. The excellent resolution of MRI allowed accurate identification of the pelvic musculature in all patients, including those with bizarre sacral abnormalities. MRI revealed structural anomalies not detected previously, such as teathering cord, intraspinal lipoma, presacral mass and renal malformation. In our institution, MRI has replaced the CT scan in the study of patients suffering of persistent fecal incontinence. In non operated on cases of anorectal malformations, MRI determines with extraordinary accuracy the location of the rectal atretic pouch, the actual pelvic muscular quality, and the detection of previously unsuspected associated anomalies.
Pessôa, Fernanda Miraldi Clemente; de Melo, Alessandro Severo Alves; Souza, Arthur Soares; de Souza, Luciana Soares; Hochhegger, Bruno; Zanetti, Gláucia; Marchiori, Edson
The aim of this review was to present the main aspects of pleural diseases seen with conventional and advanced magnetic resonance imaging (MRI) techniques. This modality is considered to be the gold standard for the evaluation of the pleural interface, characterization of complex pleural effusion, and identification of exudate and hemorrhage, as well as in the analysis of superior sulcus tumors, as it enables more accurate staging. The indication for MRI of the thorax in the identification of these conditions is increasing in comparison to computerized tomography, and it can also be used to support the diagnosis of pulmonary illnesses. This literature review describes the morphological and functional aspects of the main benign and malignant pleural diseases assessed with MRI, including mesothelioma, metastasis, lymphoma, fibroma, lipoma, endometriosis, asbestos-related pleural disease, empyema, textiloma, and splenosis.
Arakeri, Surekha Ulhas; Banga, Shilpi
Sialolipoma is a recently described rare histological variant of lipoma, characterized by well-demarcated proliferation of mature adipocytes with secondary entrapment of salivary gland elements. Less than forty cases of sialolipoma have been reported in English literature. This tumor has been reported both in major and minor salivary glands, with the parotid gland being the most common site. Age incidence in this tumor varies from 0 month to 84 years. However, the occurrence of this tumor in an infant is very rare. In the published literature, the size of this tumor varied from 1 to 7 cm. In the present case, the tumor size was >7 cm. To the best of our knowledge, congenital sialolipoma >7 cm has been rarely reported earlier. Hence, this case is presented because of its rarity and unusual gross appearance.
Thakur, Shruti; Thakur, Vijay; Sood, Ram Gopal; Thakur, Charu Smita; Khanna, Shweta
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare syndrome with unknown etiology. The syndrome is characterized by a triad of unique cutaneous, ocular, and central nervous system (CNS) manifestations. The cutaneous hallmark, nevus psiloliparus (NP), along with overlying alopecia is a constant feature. Choristoma of the eyelid is the most common ocular manifestation, while intracranial lipoma is the predominant CNS finding. Genetic counseling is required to emphasize that the disorder, although congenital, is not inheritable. We present a 21-year-old female with cutaneous, ocular, and CNS features satisfying the diagnostic criteria for ECCL. To our knowledge, this is the first case of ECCL having a large temporal exostosis. The objective of this article is to better understand the phenotypic spectrum of this syndrome whose molecular basis is still unknown. PMID:24604937
Kind, Michèle; Stock, Nathalie; Coindre, Jean Michel
Imaging and histology are two complementary morphological techniques which play a fundamental role in the diagnosis and management of soft tissue sarcomas. Imaging allows to identify some pseudosarcomatous benign lesions such as myositis ossificans, intramuscular hemangioma, angiomyolipoma, intramuscular lipoma, giant cell tumour of tendon sheath, desmoid tumour and elastofibroma. There is no formal criterion for diagnosing a sarcoma on magnetic resonance imaging (MRI) but malignancy is strongly suspected with the presence of necrosis and vascular, bone or joint invasion. Imaging may also suggest some histological types of sarcoma such as well-differentiated liposarcoma, dedifferentiated liposarcoma, synovial sarcoma or extraskeletal osteosarcoma. Imaging is also extremely helpful in determining the appropriate kind of sampling to carry out and in guiding the performance of a microbiopsy. The appearance observed on imaging should always be taken into consideration for the interpretation of the microbiopsy by the pathologist.
Parakh, Rugvedita Satyajeet; Zawar, Meera Prem; Gadgil, Pradeep Achyut; Kaujalagi, Neeraja Shashikant
A dedifferentiated liposarcoma of the retro-peritoneum of a 45-year-old female is described in this case report. It showed dedifferentiation into a histological low-grade type and thus defies the traditional definition of dedifferentiated liposarcoma. The excised specimen was a huge, multi-nodular encapsulated mass surrounding the kidney and infiltrating into it. The mass showed a dedifferentiated focus different in color from the surrounding tumor and containing areas of necrosis and hemorrhage. The sections from the dedifferentiated part of the tumor appeared predominantly as benign spindle cell component on histology but the tumor was infiltrating into the kidney. Hence, a close and long-term follow-up is expected in such cases though they look benign. In the retro-peritoneum, a lipoma-like well-differentiated liposarcoma with spindle cell component, like the present tumor, which shows dedifferentiation, should not be overlooked.
Arakeri, Surekha Ulhas; Banga, Shilpi
Sialolipoma is a recently described rare histological variant of lipoma, characterized by well-demarcated proliferation of mature adipocytes with secondary entrapment of salivary gland elements. Less than forty cases of sialolipoma have been reported in English literature. This tumor has been reported both in major and minor salivary glands, with the parotid gland being the most common site. Age incidence in this tumor varies from 0 month to 84 years. However, the occurrence of this tumor in an infant is very rare. In the published literature, the size of this tumor varied from 1 to 7 cm. In the present case, the tumor size was >7 cm. To the best of our knowledge, congenital sialolipoma >7 cm has been rarely reported earlier. Hence, this case is presented because of its rarity and unusual gross appearance. PMID:29491607
Sun, Xin; Shao, Xiaodong; Chen, Haisong
To explore the value of energy spectral CT in the differential diagnosis between benign and malignant tumor of the musculoskeletal system. Energy spectral CT scan was performed on 100 patients with soft tissue mass caused by musculoskeletal tumors found by MRI. Solid areas with homogenous density were chosen as region of interests (ROI), avoiding necrosis, hemorrhage and calcification region. Select the optimal keV on single energy images, and then the keV-CT curve was automatically generated. All 100 cases of tumors proved by histological examination were divided into four groups, 38 cases were in benign group, 10 cases in borderline group, 49 cases in malignant group, and 3 cases of lipoma (that were analyzed separately since its curve was arc shaped, significantly different from other curves). The formula used to calculate the slope of spectral curve was as follows: slope=(Hu40 keV-Hu80 keV)/40. As the slope was steep within the range of 40-80 keV based on preliminary observations, 40 keV and 80 keV were used as the reference points to calculate the slope value of the energy spectral curve. Kruskal-Wallis rank sum test was applied for statistical analysis, and P<0.05 was considered to indicate a statistically significant difference. The spectral curve of benign group was gradually falling type with a mean slope of 0.75 ± 0.30, that of malignant group was sharply falling type with a mean slope of 1.64 ± 1.00, and that of borderline group was a falling type between the above two groups with a mean slope of 1.34 ± 0.45. The differences of slopes between benign and malignant group, benign and borderline group were of statistical significance (P<0.05) respectively. The spectral curves of 3 cases of lipoma showed arc shaped rising type with a mean slope of -2.00. Spectral curve is useful in the differential diagnosis of benign and malignant tumor of the musculoskeletal system. Arc shaped curve is a specific sign for tumors containing abundant fat. Copyright © 2015
Aiyer, Siddharth N; Shetty, Ajoy Prasad; Kanna, Rishi; Maheswaran, Anupama; Rajasekaran, S
Osteolipoma is a rare variant of the ubiquitous lipoma. Published literature appears in the form of isolated case reports affecting soft tissue structures in the head, neck and rarely affecting the spine. We present a unique instance of an intraspinal osteolipoma in the cervical spine, without evidence of accompanying spinal dysraphism and an atypical clinical presentation of isolated dorsal column dysfunction. We describe the clinical presentation, operative procedure and post-operative outcomes with histopathological findings of this rare entity. A 61-year-old male presented with impaired dorsal column sensation due to an intraspinal extradural ossifying lesion in the cervical spinal canal. The patient underwent excision of the lesion with complete resolution of symptoms. Ossifying lesion in the spinal canal may be frequent finding on radiological imaging but presence of possible adipose tissue in the lesion should raise suspicion of rare clinical scenario of an osteolipoma.
Nandyala, Hariharanadha Sarma; Madapuram, Srinivasulu; Yadav, Megha; Katamala, Sudheer Kumar
Presence of lobules of adipose tissue either focally or diffusely is very rare in the thyroid gland. Fat accumulation can be macroscopic or microscopic. Focal infiltrates of fat have been reported in conditions such as adenolipoma, intrathyroid lipoma, and encapsulated papillary carcinoma. Diffuse lipomatosis has been reported in conditions such as amyloid goitre, heterotopic fat nests, thyrolipoma and liposarcoma. The exact mechanism of fat accumulation is not known although there are many theories postulated. Investigations such as ultrasound, computed tomography scan, and magnetic resonance imaging can detect the presence of macroscopic fat in the thyroid gland. Accurate diagnosis of the type of fat accumulation is necessary because tumorous and nontumorous conditions fall into the differential diagnosis. Only nine cases of papillary carcinoma associated with lipomatosis of thyroid are reported so far. We report possibly the first case of diffuse lipomatosis of the thyroid gland with a focus of papillary microcarcinoma.
Burrowes, Delilah; Boyer, Kenneth; Swisher, Charles N; Noble, A Gwendolyn; Sautter, Mari; Heydemann, Peter; Rabiah, Peter; Lee, Daniel; McLeod, Rima
Neuroimaging studies for persons in the National Collaborative Chicago-Based Congenital Toxoplasmosis Study (NCCCTS) with symptoms and signs referable to the spinal cord were reviewed. Three infants had symptomatic spinal cord lesions, another infant a Chiari malformation, and another infant a symptomatic peri-spinal cord lipoma. One patient had an unusual history of prolonged spinal cord symptoms presenting in middle age. Neuroimaging was used to establish her diagnosis and response to treatment. This 43 year-old woman with congenital toxoplasmosis developed progressive leg spasticity, weakness, numbness, difficulty walking, and decreased visual acuity and color vision without documented re-activation of her chorioretinal disease. At 52 years of age, spinal cord lesions in locations correlating with her symptoms and optic atrophy were diagnosed with 3 Tesla MRI scan. Treatment with pyrimethamine and sulfadiazine decreased her neurologic symptoms, improved her neurologic examination, and resolved her enhancing spinal cord lesions seen on MRI.
Chen, Chun-Ye; Fang, Qing-Qing; Wang, Xiao-Feng; Zhang, Min-Xia; Zhao, Wan-Yi; Shi, Bang-Hui; Wu, Li-Hong; Zhang, Li-Yun; Tan, Wei-Qiang
Madelung's disease is a rare lipid metabolic disorder characterized by diffuse, uncapsulated lipomas in the neck, shoulder, and other areas. It mainly affects middle-aged men and is related to alcohol abuse, and the cause is not clear. Surgical treatments include lipectomy and liposuction. This systematic review analyzed the treatment of Madelung's disease described in 52 articles including complete patient details, published between 2000 and 2015, and retrieved from the Web of Science, PubMed, Medline, and Embase. Lipectomy was performed in most cases and achieved more complete removal and better control of iatrogenic lesions of nearby structures than liposuction. Liposuction achieved good cosmetic results and is simpler and less invasive than lipectomy, but clinical experience is limited. Both lipectomy and liposuction have advantages and drawbacks. Surgeons should base the choice of optimal treatment on patient characteristics. Novel surgical techniques and etiologically targeted treatments hold promise as future therapies.
Jones, W; Roberts, R E
(1) Pathology of calcification and ossification.-The Leriche-Policard theories. Hyperaemia of bone causes decalcification. Reduced blood supply causes sclerosis. Diminution of vascularity of fibrous tissue causes calcification. Excess of calcium, adequate blood supply and fibroblasts give rise to bone anywhere. Subperiosteal ossification. "Myositis ossificans."(2) Radiological significance of density of bone shadows.-Decalcification of disuse, of infections, of neoplasms. Traumatic and infective scquestra. Evidence that a fragment of bone is avascular.(3) Hyperaemic decalcification of bone.-Delayed and non-union of fractures. Kummel's disease. Spontaneous hyperaemic dislocation of the atlas. Hyperaemic decalcification and nephrolithiasis.(4) Anaemic sclerosis of bone.-Syphilitic bone disease. Malignant bone disease. Fragility of sclerosed bone-Paget's, Kienboch's, Kohler's and Panner's, Albers-Schönberg's diseases.(5) Pathological calcification.-Calcification of supraspinatus tendon. Calcification of tumours-angioma, haematoma, and thrombosed vessels, lipoma, cysts, etc. Calcification of semilunar cartilages and intervertebral discs.(6) Pathological ossification.-Ossification of tendons. Ossification of semilunar cartilages.
Veda, P; Srinivasaiah, M
Incisional endometriosis (IE) is a rare entity reported in 0.03-1.08% of women following obstetric or gynecologic surgeries. Most cases reported in literature have appeared after cesarean sections and were often clinically mistaken for hernia, abscess, suture granuloma or lipoma. We hereby report a case of IE following a second trimester hysterotomy, which was diagnosed by fine needle aspiration cytology (FNAC). Our patient was 26 years old, presenting with a mass over anterior abdominal wall, associated with incapacitating pain during each menstrual cycle. FNAC showed epithelial cells, stromal cells and hemosiderin laden macrophages. Based on the typical history, clinical and cytological features, the diagnosis of IE was established. Wide surgical excision was done and the resulting rectus sheath defect was repaired. Patient was followed for 6 months during which time she was symptom free. This article also reviews the spectrum of cytological features and the rare possibility of malignant transformation that can occur in IE.
Veda, P; Srinivasaiah, M
Incisional endometriosis (IE) is a rare entity reported in 0.03–1.08% of women following obstetric or gynecologic surgeries. Most cases reported in literature have appeared after cesarean sections and were often clinically mistaken for hernia, abscess, suture granuloma or lipoma. We hereby report a case of IE following a second trimester hysterotomy, which was diagnosed by fine needle aspiration cytology (FNAC). Our patient was 26 years old, presenting with a mass over anterior abdominal wall, associated with incapacitating pain during each menstrual cycle. FNAC showed epithelial cells, stromal cells and hemosiderin laden macrophages. Based on the typical history, clinical and cytological features, the diagnosis of IE was established. Wide surgical excision was done and the resulting rectus sheath defect was repaired. Patient was followed for 6 months during which time she was symptom free. This article also reviews the spectrum of cytological features and the rare possibility of malignant transformation that can occur in IE. PMID:21346911
Chikweto, A.; McNeil, P.; Bhaiyat, M. I.; Stone, D.; Sharma, R. N.
This retrospective survey was undertaken between 2002 and 2007 on samples from dogs residing in Grenada. The objectives of the study were to identify the most common histologic types of canine cutaneous tumors, determine the relative frequency of each tumor type, and compare results to reports from other regions. In a series of 225 skin masses examined, the proportion of neoplasms was 72% whereas nonneoplastic tumors accounted for 15.6%, and inflammatory conditions constituted 12.4%. There were 10 types of nonneoplastic tumors with hamartomas being the most common (28.5%), followed by sebaceous hyperplasia (25.7%) and fibroepithelial polyps (22.8%). The 10 most common cutaneous neoplasms were hemangiosarcomas (19.1%), histiocytomas (8.6%), melanocytomas (8%), mast cell tumors (6.8%), lipomas (6.8%), hemangiopericytomas (6.2%), papillomas (5.6%), fibrosarcomas (5.6%), hemangiomas (4.9%), and squamous cell carcinomas (4.3%). Tumors of vascular origin and transmissible venereal tumors were more common in dogs in our study than reported from other regions. PMID:23738097
Chen, Chun-Ye; Fang, Qing-Qing; Wang, Xiao-Feng; Zhang, Min-Xia; Zhao, Wan-Yi; Shi, Bang-Hui; Wu, Li-Hong; Zhang, Li-Yun
Background Madelung's disease is a rare lipid metabolic disorder characterized by diffuse, uncapsulated lipomas in the neck, shoulder, and other areas. It mainly affects middle-aged men and is related to alcohol abuse, and the cause is not clear. Surgical treatments include lipectomy and liposuction. Methods This systematic review analyzed the treatment of Madelung's disease described in 52 articles including complete patient details, published between 2000 and 2015, and retrieved from the Web of Science, PubMed, Medline, and Embase. Results Lipectomy was performed in most cases and achieved more complete removal and better control of iatrogenic lesions of nearby structures than liposuction. Liposuction achieved good cosmetic results and is simpler and less invasive than lipectomy, but clinical experience is limited. Conclusions Both lipectomy and liposuction have advantages and drawbacks. Surgeons should base the choice of optimal treatment on patient characteristics. Novel surgical techniques and etiologically targeted treatments hold promise as future therapies. PMID:29682541
Story, Julie; Cymet, Tyler Childs
When people overuse their legs they develop an uncomfortable awareness of these limbs manifested as a dull burning or aching. The cause is often clear to the person with the problem as a result of the often obvious relationship to overdoing an exercise or activity and the pain. "Shin splints" is the lay term; physicians use the term medial tibial stress syndrome. The pathophysiology that leads to this pain is unclear, although there are a number of competing theories. Differential diagnosis includes stress fractures and compartment syndromes. Bone tumors or lipomas can also cause similar pain to shin splints. Diagnosis can be made by history alone in a majority of cases, but if the diagnosis is unclear, an X-ray and magnetic resonance imaging should be considered. Treatment is still mostly supportive and symptom related. Rest is the most important aspect of treatment. Locally applied cold and anti-inflammatory medication have also been felt to be beneficial.
Spangler, W L; Culbertson, M R; Kass, P H
Surgical submissions from canine splenectomy cases spanning a 3-year period (1988-1990) were evaluated. Eighty seven neoplasms of the spleen considered to be of nonangiomatous and nonlymphomatous origin were selected for morphologic classification, mitotic index determination, immunohistochemical analysis, and patient survival determination. In 76/87 cases, patient survival information was available, and the mitotic index was determined in 83/87 cases. Immunohistochemistry for selected antigens (vimentin, desmin, smooth muscle actin, myosin, and factor VIII-related antigen) was performed in 58/87 of the cases. Morphologic classification of these lesions in standard HE preparations yielded the following neoplastic groups: fibrosarcoma (19/87), undifferentiated sarcoma (19/87), leiomyosarcoma (14/87), osteosarcoma (8/87), mesenchymoma (7/87), myxosarcoma (6/87), histiocytic sarcoma (6/87), leiomyoma (3/87), lipoma-myelolipoma (2/87), liposarcoma (2/87), and malignant fibrous histiocytoma (1/87). A lack of distinct morphologic characteristics among many of the neoplasms that were classified as either fibrosarcoma, leiomyosarcoma, or undifferentiated sarcoma contrasted these groups with the relatively unambiguous features that distinguished the other sarcoma groups. Using immunohistochemical staining for muscle-specific antigens (desmin, smooth muscle actin, and myosin), specific staining often overlapped extensively within the neoplastic groups of fibrosarcomas, leiomyosarcomas, and undifferentiated sarcomas, suggesting either ambiguous morphologic findings or the possibility of a common histogenesis from smooth muscle trabeculae or a distinct population of splenic myofibroblasts. The biological behavior of all tumors examined could be placed into three categories of patient survival: (1) benign, noninvasive tumors (leiomyoma, lipoma) with prolonged survival intervals; (2) malignant tumors (fibrosarcoma, undifferentiated sarcoma, leiomyosarcoma, osteosarcoma
Jones, Watson; Roberts, R. E.
(1) Pathology of calcification and ossification.—The Leriche-Policard theories. Hyperæmia of bone causes decalcification. Reduced blood supply causes sclerosis. Diminution of vascularity of fibrous tissue causes calcification. Excess of calcium, adequate blood supply and fibroblasts give rise to bone anywhere. Subperiosteal ossification. “Myositis ossificans.” (2) Radiological significance of density of bone shadows.—Decalcification of disuse, of infections, of neoplasms. Traumatic and infective scquestra. Evidence that a fragment of bone is avascular. (3) Hyperæmic decalcification of bone.—Delayed and non-union of fractures. Kummel's disease. Spontaneous hyperæmic dislocation of the atlas. Hyperæmic decalcification and nephrolithiasis. (4) Anæmic sclerosis of bone.—Syphilitic bone disease. Malignant bone disease. Fragility of sclerosed bone—Paget's, Kienboch's, Kohler's and Panner's, Albers-Schönberg's diseases. (5) Pathological calcification.—Calcification of supraspinatus tendon. Calcification of tumours—angioma, hæmatoma, and thrombosed vessels, lipoma, cysts, etc. Calcification of semilunar cartilages and intervertebral discs. (6) Pathological ossification.—Ossification of tendons. Ossification of semilunar cartilages. PMID:19989304
Amaranathan, Anandhi; Balaguruswamy, Kanchana; Bhat, Ramachandra V.; Bora, Manash Kumar
Introduction. The congenital anomalies of breast, especially the polymastia (supernumerary breast) and polythelia (supernumerary nipple), always do not fail to amuse the clinicians because of their varied presentations, associated renal anomalies, and pathologies arising from them. The axillary polymastia is a variant of ectopic breast tissue (EBT). Ectopic breast tissue can undergo the same physiological and pathological processes as the normally located breast. The incidence of fibroadenoma developing in ectopic breast is reported as a rare entity, the most common being the carcinoma. Case Presentation. A 31-year-old Dravidian female presented with a lump of 4 cm in the right axilla for the past year which gradually increased in size, giving discomfort. Our initial differential diagnosis was fibroadenoma, lipoma, and lymphadenopathy. Further investigation and histopathological report of excision biopsy confirmed it as a fibroadenoma on ectopic breast tissue in the axilla. Patient has no associated urological or cardiac anomaly. Conclusion. This case has been reported for its rarity and to reemphasise the importance of screening of EBT for any pathology during routine screening of breast. PMID:23607040
Amaranathan, Anandhi; Balaguruswamy, Kanchana; Bhat, Ramachandra V; Bora, Manash Kumar
Introduction. The congenital anomalies of breast, especially the polymastia (supernumerary breast) and polythelia (supernumerary nipple), always do not fail to amuse the clinicians because of their varied presentations, associated renal anomalies, and pathologies arising from them. The axillary polymastia is a variant of ectopic breast tissue (EBT). Ectopic breast tissue can undergo the same physiological and pathological processes as the normally located breast. The incidence of fibroadenoma developing in ectopic breast is reported as a rare entity, the most common being the carcinoma. Case Presentation. A 31-year-old Dravidian female presented with a lump of 4 cm in the right axilla for the past year which gradually increased in size, giving discomfort. Our initial differential diagnosis was fibroadenoma, lipoma, and lymphadenopathy. Further investigation and histopathological report of excision biopsy confirmed it as a fibroadenoma on ectopic breast tissue in the axilla. Patient has no associated urological or cardiac anomaly. Conclusion. This case has been reported for its rarity and to reemphasise the importance of screening of EBT for any pathology during routine screening of breast.
Pogacnik, A; Us-Krasovec, M
This retrospective study was designed to evaluate the accuracy of cytopathologic diagnosis and of correct classification of benign breast diseases. A total of 1,598 FNABs were identified to have met the study criteria; of these, 1,258 (78.7%) cases were cytologically benign, 88 (5.5%) suspicious, 3 (0.18%) false-positive, and in 249 (15.6%) cases an inadequate sample was obtained. A specific diagnosis was made in 847/1,258 (67.3%) cases; the other 411 were diagnosed as benign NOS. Out of 847 specific FNABs diagnoses, 451 were fibroadenomas, 27 phyllodes tumors, 289 fibrocystic diseases, 4 proliferative fibrocystic diseases, 38 papillomas, 22 fat necrosis, 9 mastitis, 1 pseudolymphoma, 2 lipomas, 2 duct ecstasies, and 2 atheromas. In our study group the cytopathologic diagnosis of benign breast diseases excluding unsatisfactory aspirates was correct in 93%. Specific diagnosis was correct on average in 50% of cases, only in FA was its accuracy over 60%; in adequately sampled tumor, the predictive value of FA was 86.2%. Copyright 2004 Wiley-Liss, Inc.
Prior, Alessandro; Severino, Mariasavina; Rossi, Andrea; Pavanello, Marco; Piatelli, Gianluca; Consales, Alessandro
A lumbar lipomyelocele is a closed spinal dysraphism that can cause tethered cord syndrome. Between 5% and 15% of spinal dysraphism surgery cases are burdened with complications, the most common being wound infections or dehiscence and cerebrospinal fluid leak. Acute communicating hydrocephalus has never been described as a complication of this type of surgery. A 6-year-old girl who had undergone several surgeries in another institution for lumbar lipomyeloschisis came to our attention for a second opinion about the management of her spinal dysraphism. During the visit, she experienced sudden loss of consciousness. An emergent computed tomography scan revealed an acute communicating hydrocephalus. External ventricular drainage was performed with quick recovery of consciousness. Further craniospinal magnetic resonance imaging revealed small droplets of fat in the intracranial subarachnoid spaces and ventricular system, suggestive of rupture of the lipoma with consequent aseptic meningitis. This is the first description of acute communicating hydrocephalus as a complication of lipomyelocele surgery. We discuss the possible pathophysiologic mechanisms leading to cerebrospinal fluid dynamics alteration. Copyright © 2018 Elsevier Inc. All rights reserved.
Chen, Yanyang; Wang, Fen; Han, Anjia
Fat-forming solitary fibrous tumor (SFT) is a rare soft tissue tumor. Herein, we reported a 30-year-old woman was found to have a solid mass measuring 60×45 mm in the right kidney on an abdominal computed tomography scan. The tumor was well-circumscribed and composed of cellular nodules with the classic SFT admixed with clusters and lobules of mature adipocytes. Immunohistochemistry staining showed that the tumor cells were diffusely and strongly positive for CD34 and Bcl-2, focally and weakly positive for CD99 and EMA. Mature adipocytes were positive for S-100 protein. Ki-67 expression was found in approximately 2% of tumor cells. However, tumor cells were negative for cytokeratin, S-100 protein, HMB-45, Melan-A, SMA, and CD117. We made the pathological diagnosis of fat-forming SFT of the right kidney. The differential diagnosis includes angiomyolipoma, liposarcoma, spindle cell lipoma, sarcomatoid renal cell carcinoma, synovial sarcoma, and gastrointestinal stromal tumor. The patient was alive and well without evidence of recurrence or metastasis at 19 months after tumor resection. PMID:26339447
Yarham, John W.; Blakely, Emma L.; Alston, Charlotte L.; Roberts, Mark E.; Ealing, John; Pal, Piyali; Turnbull, Douglass M.; McFarland, Robert; Taylor, Robert W.
Mitochondrial tRNA point mutations are important causes of human disease, and have been associated with a diverse range of clinical phenotypes. Definitively proving the pathogenicity of any given mt-tRNA mutation requires combined molecular, genetic and functional studies. Subsequent evaluation of the mutation using a pathogenicity scoring system is often very helpful in concluding whether or not the mutation is causing disease. Despite several independent reports linking the m.3291T>C mutation to disease in humans, albeit in association with several different phenotypes, its pathogenicity remains controversial. A lack of conclusive functional evidence and an over-emphasis on the poor evolutionary conservation of the affected nucleotide have contributed to this controversy. Here we describe an adult patient who presented with deafness and lipomas and evidence of mitochondrial abnormalities in his muscle biopsy, who harbours the m.3291T > C mutation, providing conclusive evidence of pathogenicity through analysis of mutation segregation with cytochrome c oxidase (COX) deficiency in single muscle fibres, underlining the importance of performing functional studies when assessing pathogenicity. PMID:23273904
A genetic concept is advanced to explain the origin of several sporadic syndromes characterized by a mosaic distribution of skin defects. It is postulated that these disorders are due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in the zygote will lead to death of the embryo at an early stage of development. Cells bearing the mutation can survive only in a mosaic state, in close proximity with normal cells. The mosaic may arise either from a gametic half chromatid mutation or from an early somatic mutation. This concept of origin is proposed to apply to the Schimmelpenning-Feuerstein-Mims syndrome, the McCune-Albright syndrome, the Klippel-Trenaunay syndrome, the Sturge-Weber syndrome, and neurocutaneous melanosis. Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.
Farooq, Uzma; Chacon, Anna H; Vincek, Vladimir; Elgart, George W
Background: The cutaneous form of Rosai-Dorfman disease (RDD) is a rare entity that manifests solely with skin papules or nodules and does not present with the usual myriad of symptoms of classical RDD. Aims: To analyze the most recent publications regarding cutaneous RDD to point out updated, relevant aspects regarding future directions for clinical recognition and management. To identify histopathologic and immunohistochemical findings in skin lesions that permit diagnosis. Materials and Methods: We present a case of a gentleman with a history of multiple lipomas with a new solitary nodule on physical exam; microscopic examination shows the typical findings of RDD with the associated diagnostic immunohistochemical profile, as well as the expected finding of histiocytes engulfing other intact inflammatory cells. Results: Our patient was managed with surgical excision of the entire lesion, one of the several available treatment options. Long-term follow-up 2 years later did not reveal any complications, recurrences, or new lesions. Conclusion: The diagnosis of cutaneous RDD is differentiated from other histiocytic conditions by the combination of clinical findings accompanied by histopathologic and immunohistochemical confirmation. PMID:24249896
Makhoul, Imad R; Soudack, Michalle; Kochavi, Orna; Guilburd, Joseph N; Maimon, Shimon; Gershoni-Baruch, Ruth
We describe a term male infant of healthy non-consanguineous parents, born with congenital malformations, including bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine radiograph and MRI showed first sacral hemivertebra with spina bifida, and agenesis of the 2nd, 3rd, 4th, and 5th sacral vertebrae and coccyx. Spine MRI showed caudal tethering of spinal cord at L(3) level, filum terminalis lipoma and a syringomyelia. Brain ultrasound and MRI showed hypoplasia of corpus callosum with mild dilatation of the lateral ventricles. Orbital MRI showed bilateral microphthalmia-distorted small left eyeball with posteriorly located lens, and a split vitreous body in the right eye, suggestive of primary hyperplastic vitreous. The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia-plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified. (c) 2006 Wiley-Liss, Inc.
Yang, Chao; Wang, Shan; Zhang, Jun; Kong, Xiang Ru; Zhao, Zhenzhen; Li, Chang Chun
Volvulus caused by mesenteric masses is rare and may result in serious consequences. This study aimed to better characterize volvulus caused by mesenteric masses in children. A retrospective study was conducted in 24 patients who underwent surgical treatment between January 1994 and January 2014 in one single institution. There were 10 boys and 14 girls. The most frequent findings were abdominal pain (100%), emesis (91.7%) and nausea (83.3%). Physical examination showed positive ileus signs in majority cases, and palpable mass was found in half of the patients. Ultrasound and CT scans revealed mesenteric masses in 21 and 24 patients, and 'whirlpool sign' was observed in 19 and 22 patients, respectively. Emergency laparotomy was performed in all patients. Histological examination revealed that 18 cystic masses were lymphangioma, 5 solid cases were lipoma and the remaining one was lipoblastoma. The postoperative course was uneventful in 22 patients, and postoperative obstruction and incision infection occurred in 2 patients. There was no evidence of recurrence at follow-up. Volvulus caused by mesenteric masses is a rare but potentially life-threatening cause of abdominal pain, which should be considered in the differential diagnosis of paediatric acute abdominal pain.
Nikolaidou, C; Moscarella, E; Longo, C; Rosato, S; Cavazza, A; Piana, S
Birt-Hogg-Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad of skin lesions of the original description (fibrofolliculomas, trichodischomas and acrochordons), a wide range of neoplastic and non-neoplastic skin conditions have been reported, i.e. melanomas, trichoblastoma, neural- and connective tissue tumors, lipomas, angiolipomas and focal cutaneous mucinosis. We describe a patient with BHDS developing multiple skin angiomatous lesions with prominent signet-ring features, an association never reported so far. As renal carcinomas represent the most threatening complication in BHDS and the identification of the patients with BHDS is mainly based on the clinical and histopathologic identification of the diagnostic skin lesions, the role of the dermatologist can be crucial in the prevention and early detection of a potentially aggressive renal cancer. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Bonneville, Fabrice; Savatovsky, Julien; Chiras, Jacques
Computed tomography (CT) and magnetic resonance (MR) imaging reliably demonstrate typical features of vestibular schwannomas or meningiomas in the vast majority of mass lesions responsible for cerebellopontine angle (CPA) syndrome. However, a large variety of unusual lesions can also be encountered in the CPA. Covering the entire spectrum of lesions potentially found in the CPA, these articles explain the pertinent neuroimaging features that radiologists need to know to make clinically relevant diagnoses in these cases, including data from diffusion- and perfusion-weighted imaging or MR spectroscopy, when available. A diagnostic algorithm based on the lesion's site of origin, shape and margins, density, signal intensity and contrast material uptake is also proposed. Non-enhancing extra-axial CPA masses are cystic (epidermoid cyst, arachnoid cyst, neurenteric cyst) or contain fat (dermoid cyst, lipoma). Tumours can also extend into the CPA by extension from the skull base (paraganglioma, chondromatous tumours, chordoma, cholesterol granuloma, endolymphatic sac tumour). Finally, brain stem or ventricular tumours can present with a significant exophytic component in the CPA that may be difficult to differentiate from an extra-axial lesion (lymphoma, hemangioblastoma, choroid plexus papilloma, ependymoma, glioma, medulloblastoma, dysembryoplastic neuroepithelial tumour).
Patnaik, Ashis; Mishra, Sudhansu Sekhar; Das, Srikanta
Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS). Dandy–Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the corpus callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. But radiological features of DWM with microcephaly and intracranial calcification are very unusual and have been rarely reported in the literature. We report a case of infant showing clinical features suggestive of congenital CMV infection with negative serology and radiological imaging suggestive of DWM with extensive intracranial calcification. Pseudo-TORCH syndrome with radiological features of DWM is a congenital developmental abnormality. Inspite of hydrocephalus, it does not require cerebrospinal fluid (CSF) diversionary procedure due to lack of increased intracranial pressure. Conservative management for seizure disorder is the optimal therapy. PMID:28761539
Patnaik, Ashis; Mishra, Sudhansu Sekhar; Das, Srikanta
Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS). Dandy-Walker malformation (DWM), in addition to posterior fossa large cyst, cerebellar vermis hypoplasia, and hydrocephalus is often associated with agenesis of the corpus callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. But radiological features of DWM with microcephaly and intracranial calcification are very unusual and have been rarely reported in the literature. We report a case of infant showing clinical features suggestive of congenital CMV infection with negative serology and radiological imaging suggestive of DWM with extensive intracranial calcification. Pseudo-TORCH syndrome with radiological features of DWM is a congenital developmental abnormality. Inspite of hydrocephalus, it does not require cerebrospinal fluid (CSF) diversionary procedure due to lack of increased intracranial pressure. Conservative management for seizure disorder is the optimal therapy.
Franz, Henriette; Greschik, Holger; Willmann, Dominica; Ozretić, Luka; Jilg, Cordula Annette; Wardelmann, Eva; Jung, Manfred; Buettner, Reinhard; Schüle, Roland
The histone code reader Spindlin1 (SPIN1) has been implicated in tumorigenesis and tumor growth, but the underlying molecular mechanisms remain poorly understood. Here, we show that reducing SPIN1 levels strongly impairs proliferation and increases apoptosis of liposarcoma cells in vitro and in xenograft mouse models. Combining signaling pathway, genome-wide chromatin binding, and transcriptome analyses, we found that SPIN1 directly enhances expression of GDNF, an activator of the RET signaling pathway, in cooperation with the transcription factor MAZ. Accordingly, knockdown of SPIN1 or MAZ results in reduced levels of GDNF and activated RET explaining diminished liposarcoma cell proliferation and survival. In line with these observations, levels of SPIN1, GDNF, activated RET, and MAZ are increased in human liposarcoma compared to normal adipose tissue or lipoma. Importantly, a mutation of SPIN1 within the reader domain interfering with chromatin binding reduces liposarcoma cell proliferation and survival. Together, our data describe a molecular mechanism for SPIN1 function in liposarcoma and suggest that targeting SPIN1 chromatin association with small molecule inhibitors may represent a novel therapeutic strategy. PMID:25749382
Kale, Hrishikesh A; Prabhu, Arpan V; Sinelnikov, Andrey; Branstetter, Barton
Fat-containing lesions of the head and neck are commonly encountered in day-to-day practice. Our aim was to review the various imaging presentations of common and some uncommon fat-containing lesions within the head and neck with potential pitfalls and mimics. While most soft-tissue masses have a fairly similar density, the presence of fat in a mass lesion is easy to identify on both CT/MRI and can help narrow the differential. Case-based examples of lipomas, liposarcomas, lipoblastomas, dermoids, teratomas and other fatty lesions will be used to describe imaging features. While fat density can be helpful, differentiating benign from malignant fat-containing lesions can still pose a challenge. Lesions simulating pathology such as brown fat, fatty changes within organs and post-operative flaps are presented. Finally, examples of fatty lesions in atypical locations are shown to illustrate examples that should be kept in mind in any differential. The presence of fat in head and neck masses can aid radiologists in arriving at an accurate diagnosis. Knowledge of the imaging appearance of these fat-containing lesions and their mimics can help avoid unnecessary biopsy or surgery.
Tanaka, Mariko; Ushiku, Tetsuo; Ikemura, Masako; Takazawa, Yutaka; Igari, Toru; Shimizu, Michio; Yamaguchi, Hiroshi; Fukushima, Noriyoshi; Sakuma, Kei; Arita, Junichi; Sakamoto, Yoshihiro; Hasegawa, Kiyoshi; Watadani, Takeyuki; Nakai, Yousuke; Koike, Kazuhiko; Fukayama, Masashi
Pancreatic masses consisting of lipomatous components clinically include lipoma, liposarcoma, lipomatous pseudohypertrophy of the pancreas, fat-containing neoplasms such as perivascular epithelioid cell tumor, and malignant neoplasm with lipoid degeneration. We present pancreatic lipomatous hamartoma, which has not been reported hitherto. A solid pancreatic mass was detected from a computed tomographic scan check-up in each of 3 cases of Japanese men. Macroscopically, well-demarcated solid lipomatous masses were detected at the uncus, body, and tail of the pancreas, respectively. Microscopically, the masses predominantly consisted of mature adipocytes with no atypia, but contained characteristics components of pancreatic hamartoma, such as small ducts, a well-preserved acinar structure, and/or fibrous stroma. On the basis of the unique features, lack of islets and absence of periductal elastic fibers, these tumors are a distinct variant of pancreatic hamartoma. Furthermore, high-mobility group AT-hook 2 expression in the fibro-adipocytes of this tumor indicated that these cells are an integral component of the pancreatic lipomatous hamartoma. Consequently, the unique tumors described herein are pancreatic lipomatous hamartoma, which must be discriminated from other lipomatous lesions of the pancreas.
Sadagopan, Karthikeyan A; Wasserman, Barry N
To provide clinically relevant information regarding the evaluation and current treatment options for oculomotor nerve palsies. We survey recent literature and provide some insights into these studies. Recent case reports highlight emerging new causes of oculomotor cranial nerve palsies, including sellar chordoma, odontogenic abscess, nonaneurysmal subarachnoid hemorrhage, polycythemia, sphenoiditis, neurobrucellosis, interpeduncular fossa lipoma, metastatic pancreatic cancer, leukemia, and lymphoma. Surgical studies have focused on modifications and innovations regarding strabismus surgery for this condition. New globe fixation procedures may include fixation to the medial orbital wall by precaruncular and retrocaruncular approaches, apically based orbital bone periosteal flap fixation and the suture/T-plate anchoring platform system. Management of oculomotor nerve palsy depends in part upon the underlying cause and anatomical location of the lesion. Careful clinical evaluation and appropriate imaging can identify a definitive cause in most cases. Surgical options depend on the number, extent, and severity of the muscles involved as well as the presence or absence of signs of aberrant regeneration. The clinician should also address issues that arise due to involvement of the pupil and accommodation. Strabismus surgery can be challenging but also rewarding with appropriate selection and staging of procedures.
Berg, Wendie A; Mendelson, Ellen B; Cosgrove, David O; Doré, Caroline J; Gay, Joel; Henry, Jean-Pierre; Cohen-Bacrie, Claude
The objective of our study was to compare quantitative maximum breast mass stiffness on shear-wave elastography (SWE) with histopathologic outcome. From September 2008 through September 2010, at 16 centers in the United States and Europe, 1647 women with a sonographically visible breast mass consented to undergo quantitative SWE in this prospective protocol; 1562 masses in 1562 women had an acceptable reference standard. The quantitative maximum stiffness (termed "Emax") on three acquisitions was recorded for each mass with the range set from 0 (very soft) to 180 kPa (very stiff). The median Emax and interquartile ranges (IQRs) were determined as a function of histopathologic diagnosis and were compared using the Mann-Whitney U test. We considered the impact of mass size on maximum stiffness by performing the same comparisons for masses 9 mm or smaller and those larger than 9 mm in diameter. The median patient age was 50 years (mean, 51.8 years; SD, 14.5 years; range, 21-94 years), and the median lesion diameter was 12 mm (mean, 14 mm; SD, 7.9 mm; range, 1-53 mm). The median Emax of the 1562 masses (32.1% malignant) was 71 kPa (mean, 90 kPa; SD, 65 kPa; IQR, 31-170 kPa). Of 502 malignancies, 23 (4.6%) ductal carcinoma in situ (DCIS) masses had a median Emax of 126 kPa (IQR, 71-180 kPa) and were less stiff than 468 invasive carcinomas (median Emax, 180 kPa [IQR, 138-180 kPa]; p = 0.002). Benign lesions were much softer than malignancies (median Emax, 43 kPa [IQR, 24-83 kPa] vs 180 kPa [IQR, 129-180 kPa]; p < 0.0001). Usual benign lesions were soft, including 62 cases of fibrocystic change (median Emax, 32 kPa; IQR, 24-94 kPa), 51 cases of fibrosis (median Emax, 36 kPa; IQR, 22-102 kPa), and 301 fibroadenomas (median Emax, 45 kPa; IQR, 30-79 kPa). Eight lipomas (median Emax, 14 kPa; IQR, 8-15 kPa), 154 cysts (median Emax, 29 kPa; IQR, 10-58 kPa), and seven lymph nodes (median Emax, 17 kPa; IQR, 9-40 kPa) were softer than usual benign lesions (p < 0.0001 for lipomas
Chalita, M C; Matera, J M; Alves, M T; Longatto Filho, A
To analyze the findings of nonaspiration fine needle (NAFN) cytology as compared with the histopathologic findings in evaluating canine skin and soft tissue tumors. NAFN (21-27 gauge) cytology was performed on 213 cases. Smears were air dried and stained by the Rosenfeld method (May-Grünwald-Giemsa modification). Histopathologic evaluation was available for comparison in 40% of cases. NAFN cytology and histopathology results were compared in 85 dogs. The size of the 117 lesions varied from 0.5 to 2 cm (n=39), 2.1 to 5 cm (n=43), and > or = 5.1 (n=35). There were 22 nonneoplastic lesions, mostly inflammatory processes and cysts. Neoplastic lesions were classified as epithelial (36%), mesenchymal (30%), round cell tumor (n=13) and melanocytic (2%). Among 40 malignant lesions, mast cell tumor (n=14) and hemangiopericytoma (n=9) were the most frequent. Lipoma (n=14) and trichoblastoma (n=10) were the most common benign neoplastic lesions. Cytology showed sensitivity of 89%, specificity of 100%, positive and negative predictive value of 100% and 96%, respectively, and efficacy of 97%. NAFN cytology is extremely useful and accurate. It is safe and avoids the use of anesthesia. Further, it is easy to perform and noninvasive and usually provides a high-quality sample.
Bisceglia, M; Nirchio, V; Carosi, I; Cappucci, U; Decata, A; Paragone, T; Di Mattia, A L
All the spectrum is encompassed of those miscellaneous pathologic entities occurring in the mammary stroma which are on record up to date other than "mixed fibroepithelial" tumors (fibroadenomas and phyllodes tumors) and tumors both "pure" and "mixed" originating from myoepithelium (adenomyoepitheliomas and pleomorphic adenomas). Also they were excluded those dysreactive-autoimmune diseases (sarcoidosis, sclerosing lymphocytic lobulitis, lobular granulomatous mastitis) and those inflammatory-infectious conditions (tuberculosis, actinomycosis, foreign body reactions, Mondor's disease) which can mimick breast tumors clinically or on image analysis, but on the contrary not evoking the idea of a tumor on histology. Specifically, inflammatory pseudotumor, myofibroblastoma, leiomyoma, neurinoma/neurofibroma, benign fibrous histiocytoma, hemangiopericytoma, fibromatosis, nodular fascitis, variants of lipoma, mesenchymoma, amartoma and its variants, hemangiomas, pseudoangiomatous hyperplasia of stroma, amyloid tumor, granular cell tumor, are consecutively described and discussed, with a large list of references enclosed to each rubric. Most of the pictures are taken from personally observed lesions of the breast. Only few pictures referred to are from their analogue lesions which occurred in soft parts of other locations, with specific mention of that when it was the case. Of note after reviewing the literature the fact that no glomus tumor, nor Kaposi's sarcoma either sporadic or in the context of any immunodeficiency, nor myelolipoma has been recorded yet.
Zhao, Fei; Zhou, Jun; Li, Rong; Dudley, Elizabeth A; Ye, Xiaoqin
Congenital reproductive tract anomalies could impair fertility. Female and male reproductive tracts are developed from Müllerian ducts and Wolffian ducts, respectively, involving initiation, elongation and differentiation. Genetic basis solely for distal reproductive tract development is largely unknown. Lhfpl2 (lipoma HMGIC fusion partner-like 2) encodes a tetra-transmembrane protein with unknown functions. It is expressed in follicle cells of ovary and epithelial cells of reproductive tracts. A spontaneous point mutation of Lhfpl2 (LHFPL2(G102E)) leads to infertility in 100% female mice, which have normal ovarian development, ovulation, uterine development, and uterine response to exogenous estrogen stimulation, but abnormal upper longitudinal vaginal septum and lower vaginal agenesis. Infertility is also observed in ~70% mutant males, which have normal mating behavior and sperm counts, but abnormal distal vas deferens convolution resulting in complete and incomplete blockage of reproductive tract in infertile and fertile males, respectively. On embryonic day 15.5, mutant Müllerian ducts and Wolffian ducts have elongated but their duct tips are enlarged and fail to merge with the urogenital sinus. These findings provide a novel function of LHFPL2 and a novel genetic basis for distal reproductive tract development; they also emphasize the importance of an additional merging phase for proper reproductive tract development.
Kramer, M; Gerwing, M; Hach, V; Schimke, E
Sonography of the musculoskeletal system in dogs and cats was undertaken to evaluate the application of this imaging procedure in orthopedics. In most of the patients a 7.5 MHz linear transducer was used because of its flat application surface and its resolving power. The evaluation of bone by sonography is limited, but sonography can provide addition information regarding the bone surface and surrounding soft tissue. Ultrasound is valuable for assessing joint disease. Joint effusion, thickening of the joint capsule and cartilage defects can be identified sonographically. It is also possible to detect bone destruction. Instabilities are often identified with the help of a dynamic examination. Soft tissue abnormalities of the musculoskeletal system lend themselves to sonographic evaluation. Partial or complete muscles or tendon tears are able to be differentiated and the healing process can be monitored. Most of the diseases that are in the area of the biceps or the achilles tendon, such as dislocation of the tendon, old injuries with scarification, free dissecates in the tendonsheath, tendinitis and/or tendosynovitis can be differentiated by sonography. In addition, with clinical and laboratory findings, it is often possible to make a correct diagnosis with ultrasound in patients with abscesses, foreign bodies, hematomas, soft tissue tumors and lipomas.
Thrasher, Jack Dwayne; Gray, Michael R.; Kilburn, Kaye H.; Dennis, Donald P.; Yu, Archie
A family of five and pet dog who rented a water-damaged home and developed multiple health problems. The home was analyzed for species of mold and bacteria. The diagnostics included MRI for chronic sinusitis with ENT and sinus surgery, and neurological testing for neurocognitive deficits. Bulk samples from the home, tissue from the sinuses, urine, nasal secretions, placenta, umbilical cord, and breast milk were tested for the presence of trichothecenes, aflatoxins, and Ochratoxin A. The family had the following diagnosed conditions: chronic sinusitis, neurological deficits, coughing with wheeze, nose bleeds, and fatigue among other symptoms. An infant was born with a total body flare, developed multiple Cafe-au-Lait pigmented skin spots and diagnoses with NF1 at age 2. The mycotoxins were detected in bulk samples, urine and nasal secretions, breast milk, placenta, and umbilical cord. Pseudomonas aueroginosa, Acinetobacter, Penicillium, and Aspergillus fumigatus were cultured from nasal secretions (father and daughter). RT-PCR revealed A. fumigatus DNA in sinus tissues of the daughter. The dog had 72 skin lesions (sebaceous glands and lipomas) from which trichothecenes and ochratoxin A. were detected. The health of the family is discussed in relation to the most recent published literature regarding microbial contamination and toxic by-products present in water-damaged buildings. PMID:22220187
Thrasher, Jack Dwayne; Gray, Michael R; Kilburn, Kaye H; Dennis, Donald P; Yu, Archie
A family of five and pet dog who rented a water-damaged home and developed multiple health problems. The home was analyzed for species of mold and bacteria. The diagnostics included MRI for chronic sinusitis with ENT and sinus surgery, and neurological testing for neurocognitive deficits. Bulk samples from the home, tissue from the sinuses, urine, nasal secretions, placenta, umbilical cord, and breast milk were tested for the presence of trichothecenes, aflatoxins, and Ochratoxin A. The family had the following diagnosed conditions: chronic sinusitis, neurological deficits, coughing with wheeze, nose bleeds, and fatigue among other symptoms. An infant was born with a total body flare, developed multiple Cafe-au-Lait pigmented skin spots and diagnoses with NF1 at age 2. The mycotoxins were detected in bulk samples, urine and nasal secretions, breast milk, placenta, and umbilical cord. Pseudomonas aueroginosa, Acinetobacter, Penicillium, and Aspergillus fumigatus were cultured from nasal secretions (father and daughter). RT-PCR revealed A. fumigatus DNA in sinus tissues of the daughter. The dog had 72 skin lesions (sebaceous glands and lipomas) from which trichothecenes and ochratoxin A. were detected. The health of the family is discussed in relation to the most recent published literature regarding microbial contamination and toxic by-products present in water-damaged buildings.
Sheybani, Elizabeth F; Eutsler, Eric P; Navarro, Oscar M
The diagnosis of soft-tissue masses in children can be difficult because of the frequently nonspecific clinical and imaging characteristics of these lesions. However key findings on imaging can aid in diagnosis. The identification of macroscopic fat within a soft-tissue mass narrows the differential diagnosis considerably and suggests a high likelihood of a benign etiology in children. Fat can be difficult to detect with sonography because of the variable appearance of fat using this modality. Fat is easier to recognize using MRI, particularly with the aid of fat-suppression techniques. Although a large portion of fat-containing masses in children are adipocytic tumors, a variety of other tumors and mass-like conditions that contain fat should be considered by the radiologist confronted with a fat-containing mass in a child. In this article we review the sonographic and MRI findings in the most relevant fat-containing soft-tissue masses in the pediatric age group, including adipocytic tumors (lipoma, angiolipoma, lipomatosis, lipoblastoma, lipomatosis of nerve, and liposarcoma); fibroblastic/myofibroblastic tumors (fibrous hamartoma of infancy and lipofibromatosis); vascular anomalies (involuting hemangioma, intramuscular capillary hemangioma, phosphate and tensin homologue (PTEN) hamartoma of soft tissue, fibro-adipose vascular anomaly), and other miscellaneous entities, such as fat necrosis and epigastric hernia.
Dachman, Abraham H.; Wroblewski, Kristen; Vannier, Michael W.; Horne, John M.
Computed tomography (CT) colonography is a screening modality used to detect colonic polyps before they progress to colorectal cancer. Computer-aided detection (CAD) is designed to decrease errors of detection by finding and displaying polyp candidates for evaluation by the reader. CT colonography CAD false-positive results are common and have numerous causes. The relative frequency of CAD false-positive results and their effect on reader performance on the basis of a 19-reader, 100-case trial shows that the vast majority of CAD false-positive results were dismissed by readers. Many CAD false-positive results are easily disregarded, including those that result from coarse mucosa, reconstruction, peristalsis, motion, streak artifacts, diverticulum, rectal tubes, and lipomas. CAD false-positive results caused by haustral folds, extracolonic candidates, diminutive lesions (<6 mm), anal papillae, internal hemorrhoids, varices, extrinsic compression, and flexural pseudotumors are almost always recognized and disregarded. The ileocecal valve and tagged stool are common sources of CAD false-positive results associated with reader false-positive results. Nondismissable CAD soft-tissue polyp candidates larger than 6 mm are another common cause of reader false-positive results that may lead to further evaluation with follow-up CT colonography or optical colonoscopy. Strategies for correctly evaluating CAD polyp candidates are important to avoid pitfalls from common sources of CAD false-positive results. ©RSNA, 2014 PMID:25384290
Yaldiz, Mehmet; Kilinc, Nihal; Ozdemir, Enver
Angiomyolipoma (AML) is a benign neoplasm consisting of varying mixtures of smooth muscle, blood vessels and fat. Although, most of these tumors are easy to recognize, some may pose a diagnostic dilemma due to unusual histologic features. Recently, it was suggested that melanosome-associated protein (HMB-45) immunoreactivity may be used for diagnostic confirmation of several neoplasm. The aim of this study is to analyze the diagnostic efficacy of HMB-45 in patients with AML. This study was carried out at the Faculty of Medicine, Department of Pathology, Dicle University, Diyarbakir, Turkey, during the period January 2000 to September 2003. HMB-45 immunoreactivity was analyzed in 6 patients with AML and in 34 patients with other renal and retroperitoneal pathologies, including 10 nephrectomized patients for non-neoplastic reasons by means of immunohistochemistry. Patients with AML were positive for HMB-45. Whereas, HMB-45 immunoreactivity was negative in all of the histologic specimens from the patients with renal cell carcinoma, retroperitoneal sarcomas, Wilms' tumor, lipoma, leiomyoma, and nephrectomized kidneys of non-neoplastic reason. The association of AML with HMB-45 immunoreactivity was highly significant (p<0.001). Our findings suggest that HMB-45 may not be a melanocyte-restricted marker, and can be useful in differential diagnosis between AML and other tumors seen in kidney and retroperitoneal region.
Ahumada, Leonik A; Ashruf, Salman; Espinosa-de-los-Monteros, Antonio; Long, James N; de la Torre, Jorge I; Garth, William P; Vasconez, Luis O
Athletic pubalgia, or "sports hernia," affects people actively engaged in sports. Previously described in high-performance athletes, it can occur in recreational athletes. It presents with inguinal pain exacerbated with physical activity. Examination reveals absence of a hernia with pubic point tenderness accentuated by resisted adduction of the hip. Diagnosis is by history and physical findings. Treatment with an internal oblique flap reinforced with mesh alleviates symptoms. A retrospective review from December 1998 to November 2004 for patients with athletic pubalgia who underwent operative repair was performed. Descriptive variables included age, gender, laterality, sport, time to presentation, outcome, anatomy, and length of follow-up. Twelve patients, 1 female, with median age 25 years were evaluated. Activities included running (33%), basketball (25%), soccer (17%), football (17%), and baseball (8%). The majority were recreational athletes (50%). Median time to presentation was 9 months, with a median 4 months of follow-up. The most common intraoperative findings were nonspecific attenuation of the inguinal floor and cord lipomas. All underwent open inguinal repair, with 9 being reinforced with mesh. Four had adductor tenotomy. Results were 83.3% excellent and 16.7% satisfactory. All returned to sports. Diagnosis of athletic pubalgia can be elusive, but is established by history and physical examination. It can be found in recreational athletes. An open approach using mesh relieves the pain and restores activity.
Papanikolaou, Vasileios; Khan, Mohammad H; Keogh, Ivan J
The evaluation of patients presenting with audiovestibular symptoms usually includes MRI of the internal auditory meatus, the cerebellopontine angle and the brain. A significant percentage of these scans will present unexpected, incidental findings, which could have important clinical significance. To determine the frequency and clinical significance of incidental findings on MRI scans of patients with audiovestibular symptoms. A retrospective analysis of 200 serial MRI scans. Gender distribution: equal. Age range: 17-82 years. One-hundred and four scans (52%) were normal and 1 scan (0.5%) demonstrated a unilateral vestibular schwannoma. Ninety-five scans (47.5%) demonstrated incidental findings. Sixty-six of these (33%) were considered of ishaemic origin and did not require further action. Five (2.5%) scans demonstrated significant findings which warranted appropriate referral; Two Gliomas (1%), 2 cases of extensive White Matter Lesions (1%), 1 lipoma (0.5%). The remaining scans demonstrated various other findings. Investigation of patients with audiovestibular symptoms with MRI scans revealed incidental findings in a significant percentage (47.5%). The majority of these findings were benign warranting no further action and only 2.5% required further referral. It is the responsibility of the referring Otolaryngologist to be aware of these findings, to be able to assess their significance, to inform the patient and if needed to refer for further evaluation.
Zaragosi, Laure-Emmanuelle; Dadone, Bérengère; Michiels, Jean-François; Marty, Marion; Pedeutour, Florence; Dani, Christian; Bianchini, Laurence
Syndecan-1 (SDC1/CD138) is one of the main cell surface proteoglycans and is involved in crucial biological processes. Only a few studies have analyzed the role of SDC1 in mesenchymal tumor pathogenesis. In particular, its involvement in adipose tissue tumors has never been investigated. Dedifferentiated liposarcoma, one of the most frequent types of malignant adipose tumors, has a high potential of recurrence and metastastic evolution. Classical chemotherapy is inefficient in metastatic dedifferentiated liposarcoma and novel biological markers are needed for improving its treatment. In this study, we have analyzed the expression of SDC1 in well-differentiated/dedifferentiated liposarcomas and showed that SDC1 is highly overexpressed in dedifferentiated liposarcoma compared with normal adipose tissue and lipomas. Silencing of SDC1 in liposarcoma cells impaired cell viability and proliferation. Using the human multipotent adipose-derived stem cell model of human adipogenesis, we showed that SDC1 promotes proliferation of undifferentiated adipocyte progenitors and inhibits their adipogenic differentiation. Altogether, our results support the hypothesis that SDC1 might be involved in liposarcomagenesis. It might play a prominent role in the dedifferentiation process occurring when well-differentiated liposarcoma progress to dedifferentiated liposarcoma. Targeting SDC1 in these tumors might provide a novel therapeutic strategy. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: firstname.lastname@example.org.
Lasp1 gene disruption is linked to enhanced cell migration and tumor formation Address for reprint requests and other correspondence: C. S. Chew, Inst. of Molecular Medicine and Genetics, Sanders R&E Bldg., Rm. CB 2803, Medical College of Georgia, Augusta, GA 30912-3175 (e-mail: email@example.com).
Zhang, Han; Chen, Xunsheng; Bollag, Wendy B.; Bollag, Roni J.; Sheehan, Daniel J.; Chew, Catherine S.
Lasp1 is an actin-binding, signaling pathway-regulated phosphoprotein that is overexpressed in several cancers. siRNA knockdown in cell lines retards cell migration, suggesting the possibility that Lasp1 upregulation influences cancer metastasis. Herein, we utilized a recently developed gene knockout model to assess the role of Lasp1 in modulating nontransformed cell functions. Wound healing and tumor initiation progressed more rapidly in Lasp1−/− mice compared with Lasp1+/+ controls. Embryonic fibroblasts (MEFs) derived from Lasp1−/− mice also migrated more rapidly in vitro. These MEFs characteristically possessed increased focal adhesion numbers and displayed more rapid attachment compared with wild-type MEFs. Differential microarray analyses revealed alterations in message expression for proteins implicated in cell migration, adhesion, and cytoskeletal organization. Notably, the focal adhesion protein, lipoma preferred partner (LPP), a zyxin family member and putative Lasp1 binding protein, was increased about twofold. Because LPP gene disruption reduces cell migration, we hypothesize that LPP plays a role in enhancing the migratory capacity of Lasp1−/− MEFs, perhaps by modifying the subcellular localization of other motility-associated proteins. The striking contrast in the functional effects of loss of Lasp1 in innate cells compared with cell lines reveals distinct differences in mechanisms of motility and attachment in these models. PMID:19531578
Enzi, G; Busetto, L; Sergi, G; Coin, A; Inelmen, E M; Vindigni, V; Bassetto, F; Cinti, S
Aim of this study is an updated review of our case series (72 patients) as well as available literature on the Multiple Symmetric Lipomatosis (MSL), a rare disease primarily involving adipose tissue, characterized by the presence of not encapsulated fat masses, symmetrically disposed at characteristic body sites (neck, trunk, proximal parts of upper and lower limbs). The disease is more frequent in males, associated to an elevated chronic alcohol consumption, mainly in form of red wine. Familiarity has been reported and MSL is considered an autosomic dominant inherited disease. MSL is associated to severe clinical complications, represented by occupation of the mediastinum by lipomatous tissue with a mediastinal syndrome and by the presence of a somatic and autonomic neuropathies. Hyper-alphalipoproteinemia with an increased adipose tissue lipoprotein-lipase activity, a defect of adrenergic stimulated lipolysis and a reduction of mitochondrial enzymes have been described. The localization of lipomatous masses suggests that MSL lipomas could originate from brown adipose tissue (BAT). Moreover, studies on cultured pre-adipocytes demonstrate that these cells synthetize the mitochondrial inner membrane protein UCP-1, the selective marker of BAT. Surgical removal of lipomatous tissue is to date the only validated therapeutic approach. MSL is supposed to be the result of a disorder of the proliferation and differentiation of human BAT cells. Copyright © 2015 Elsevier B.V. All rights reserved.
Yildiz, Necmettin; Ardic, Füsun
Medial antebrachial cutaneous nerve (MACN) neuropathy is reported to be caused by iatrogenic reasons. Although the cases describing the posterior branch of MACN neuropathy are abundant, only one case caused by lipoma has been found to describe the anterior branch of MACN neuropathy in the literature. As for the reason for the forearm pain, we report the only case describing isolated anterior branch of MACN neuropathy which has developed due to repeated minor trauma. We report a 37-year-old woman patient with pain in her medial forearm and elbow following the shaking of a rug. Pain and symptoms of dysestesia in the distribution of the right MACN were found. Electrophysiological examination confirmed the normality of the main nerve trunks of the right upper limb and demonstrated abnormalities of the right MACN when compared with the left side. Sensory action potential (SAP) amplitude on the right anterior branch of the MACN was detected to be lower in proportion to the left. In the light of these findings, NSAI drug and physical therapy was performed. Dysestesia and pain were relieved and no recurrence was observed after a follow-up of 14 months. MACN neuropathy should be taken into account for the differential diagnosis of the patients with complaints of pain and dysestesia in medial forearm and anteromedial aspect of the elbow.
Introduction Medial antebrachial cutaneous nerve (MACN) neuropathy is reported to be caused by iatrogenic reasons. Although the cases describing the posterior branch of MACN neuropathy are abundant, only one case caused by lipoma has been found to describe the anterior branch of MACN neuropathy in the literature. As for the reason for the forearm pain, we report the only case describing isolated anterior branch of MACN neuropathy which has developed due to repeated minor trauma. Case presentation We report a 37-year-old woman patient with pain in her medial forearm and elbow following the shaking of a rug. Pain and symptoms of dysestesia in the distribution of the right MACN were found. Electrophysiological examination confirmed the normality of the main nerve trunks of the right upper limb and demonstrated abnormalities of the right MACN when compared with the left side. Sensory action potential (SAP) amplitude on the right anterior branch of the MACN was detected to be lower in proportion to the left. In the light of these findings, NSAI drug and physical therapy was performed. Dysestesia and pain were relieved and no recurrence was observed after a follow-up of 14 months. Conclusion MACN neuropathy should be taken into account for the differential diagnosis of the patients with complaints of pain and dysestesia in medial forearm and anteromedial aspect of the elbow. PMID:18426569
Useche, Juan N; de Castro, Alfredo M Fernández; Galvis, Germán E; Mantilla, Rodolfo A; Ariza, Alvaro
Deep venous thrombosis (DVT) is a major health problem and is estimated to have an incidence of 600,000 cases per year. Clinical signs and symptoms of DVT are unreliable. If clinical signs alone were used to diagnose DVT, 42% of patients would receive unnecessary anticoagulation therapy. Most patients evaluated with ultrasonography (US) do not have DVT. The key to making a precise diagnosis is recognizing the characteristics of various diseases on US images. The anatomic approach is the most useful strategy for characterizing the spectrum of pathologic conditions seen in patients with symptoms that simulate DVT. The inferior extremity can be divided into four regions-inguinal, thigh, popliteal, and lower leg-with the rough limits defined for each as they are examined at US. The differential diagnoses affecting the lower extremities include infectious, neoplastic, traumatic, inflammatory, vascular, and miscellaneous entities. Some pathologic conditions seen in the inguinal region are adenopathies, lymphangitis, soft-tissue tumors, hematomas, adductor tendonitis, and hernias. In the thigh, cellulitis, myositis, abscess, benign and malignant tumors, and sports-related lesions are seen. In the popliteal region, cellulitis, arthritis, benign and malignant masses, muscle contusions, ruptured popliteal cysts, and thrombophlebitis are seen. And in the lower leg, cellulitis, lipomas, tennis leg, superficial thrombophlebitis, tendonitis, and soft-tissue hydrostatic edema secondary to cardiac and renal failure can simulate DVT. (c) RSNA, 2008.
Berry, A D; Patterson, J W
Because there have been few comprehensive histopathologic studies of meningomyeloceles and related malformations, we undertook a systematic study of these lesions. One hundred and thirty two cases were obtained from our surgical pathology files; these included 38 meningoceles, 71 meningomyeloceles, and 23 encephaloceles. Tissue sections were stained with hematoxylin and eosin; special stains included trichrome, alcian blue, Fontana-Masson, Nissl, Holzer, and immunoperoxidase for glial fibrillary acidic protein. Epithelial changes included ulceration, atrophy, or nevoid hyperplasia of the epidermis, and loss of appendages. Mesodermal features included fibrous zones resembling dura, subarachnoid tissue or scar (99% of cases), increased numbers of blood vessels (83%), hypertrophy of arrector pili muscle (42%), lipoma formation (38%), and immature skeletal muscle fibers (5%) that rarely intermingled with neuropil-like matrix. The latter tissue was identified in 71% of cases and included neurons, astrocytes, oligodendroglia, and ependyma. Forty-eight percent of cases included peripheral nerve fibers or roots, and some fibers formed onion bulb or Pacinian corpuscle-like structures. Meningothelial cells were observed in 26% of cases and sometimes formed recognizable whorls. Choroid plexus was noted in 3 cases, one example showing an unusual dystrophic calcification that formed long parallel spicules. Pigmented dendritic cells were observed within zones of fibrous tissue in 10% of cases. These malformations involve complex arrangements of cutaneous, neuroectodermal, and mesodermal elements. Because they may be encountered by dermatopathologists, familiarity with the microscopic features of dysraphic lesions is essential.
Dorbandt, Daniel M; Joslyn, Stephen K; Hamor, Ralph E
To describe the technique and utility of three-dimensional (3D) printing for orbital and peri-orbital masses and discuss other potential applications for 3D printing. Three dogs with a chronic history of nonpainful exophthalmos. Computed tomography (CT) and subsequent 3D printing of the head was performed on each case. CT confirmed a confined mass, and an ultrasound-guided biopsy was obtained in each circumstance. An orbitotomy was tentatively planned for each case, and a 3D print of each head with the associated globe and mass was created to assist in surgical planning. In case 1, the mass was located in the cranioventral aspect of the right orbit, and the histopathologic diagnosis was adenoma. In case 2, the mass was located within the lateral masseter muscle, ventral to the right orbit between the zygomatic arch and the ramus of the mandible. The histopathologic diagnosis in case 2 was consistent with a lipoma. In case 3, the mass was located in the ventral orbit, and the histopathologic diagnosis was histiocytic cellular infiltrate. Three-dimensional printing in cases with orbital and peri-orbital masses has exceptional potential for improved surgical planning and provides another modality for visualization to help veterinarians, students, and owners understand distribution of disease. Additionally, as the techniques of 3D printing continue to evolve, the potential exists to revolutionize ocular surgery and drug delivery. © 2016 American College of Veterinary Ophthalmologists.
Scheithauer, Bernd W; Amrami, Kimberly K; Folpe, Andrew L; Silva, Ana I; Edgar, Mark A; Woodruff, James M; Levi, Allan D; Spinner, Robert J
Tumors of peripheral nerve are largely neuroectodermal in nature and derived from 2 elements of nerve, Schwann or perineurial cells. In contrast, mesenchymal tumors affecting peripheral nerve are rare and are derived mainly from epineurial connective tissue. The spectrum of the latter is broad and includes lipoma, vascular neoplasms, hematopoietic tumors, and even meningioma. Of malignant peripheral nerve neoplasms, the vast majority are primary peripheral nerve sheath tumors. Malignancies of mesenchymal type are much less common. To date, only 12 cases of synovial sarcoma of nerve have been described. Whereas in the past, parallels were drawn between synovial sarcoma and malignant glandular schwannoma, an uncommon form of malignant peripheral nerve sheath tumor, molecular genetics have since clarified the distinction. Herein, we report 10 additional examples of molecularly confirmed synovial sarcoma, all arising within minor or major nerves. Affecting 7 female and 3 male patients, 4 tumors occurred in pediatric patients. Clinically and radiologically, most lesions were initially thought to be benign nerve sheath tumors. On reinterpretation of imaging, they were considered indeterminate in nature with some features suspicious for malignancy. Synovial sarcoma of nerve, albeit rare, seems to behave in a manner similar to its more common, soft tissue counterpart. Those affecting nerve have a variable prognosis. Definitive recommendations regarding surgery and adjuvant therapies await additional reports and long-term follow-up. The literature is reviewed and a meta-analysis is performed with respect to clinicopathologic features versus outcome. Copyright © 2011. Published by Elsevier Inc.
Detection of fat in the cranium usually indicates the presence of a fat-containing tumor such as lipoma, dermoid cyst or teratoma. However, since 1982, Hasso et al demonstrated with CT the presence of normal adipose tissue in the cavernous sinus, the mere existence of fat in the cranium does not necessarily mean the presence of a fatty tumor. The author first described fat deposition in the superior sagittal sinus and torcular Herophili following a CT study performed in 1986. The purpose of this study was to investigate the distribution, frequency, and anatomical correlations of fat in the dural sinus as demonstrated on CT. Fat was detected in the cavernous sinus in 20% of all cases (492/2408), and occurred more frequently (25%) in those older than 50 years. Fat was less frequent in the other dural sinuses (3%; 75/2296). The most common location was the torcular Herophili, followed in decreasing order of frequency by the straight sinus, inferior sagittal sinus, superior sagittal sinus and transverse sinus. Pathological examination was performed in three cases. Fat deposition was composed of normal adipose tissue and was devoid of fibrous encapsulation or infiltration. In one case, the fat seemed to be partly exposed to the subarachnoid space on CT, whereas on autopsy, thin dura mater covering the fat nodule was confirmed. Fat in the dural sinus must be differentiated from cavernous nodule or sinus thrombosis. The Hounsfield unit may be helpful in making a definitive diagnosis.
Felipo, F; Vaquero, M; del Agua, C
An extraordinary case of encapsulated fat necrosis characterized by its large size, diffuse formation of pseudomembranes, and tendency to recur after excision is reported. A 67-year-old Caucasian woman suffering from morbid obesity was admitted for diagnosis and surgical treatment of a soft tissue mass showing a longest diameter of 14 cm and lying adjacently to the scar from previous appendicectomy. Histopathologic features were consistent with a nodular-cystic encapsulated fat necrosis with diffuse pseudomembranous transformation. Eight months after surgery, a new larger mass (longest diameter of 18 cm) sharing identical histopathologic features appeared in the same location. Encapsulated fat necrosis is a well-defined entity even though several names have been proposed for this condition, including mobile encapsulated lipoma, encapsulated necrosis, or nodular-cystic fat necrosis. Its pathogenesis seems to be related to ischemic changes secondary to previous trauma. It may occasionally show degenerative changes, including dystrophic calcifications and presence of pseudomembranes. To our knowledge, these are the first reported cases of encapsulated fat necrosis presenting as lesions of such size and showing diffuse formation of pseudomembranes; these particular features made diagnosis difficult and led to consideration of a wide range of potential diagnostic possibilities. This case expands the clinico-pathologic spectrum of membranocystic fat necrosis, including the potential ability of this subcutaneous fatty tissue abnormality to recur after surgical excision. Felipo F, Vaquero M, del Agua C. Pseudotumoral encapsulated fat necrosis with diffuse pseudomembranous degeneration.
Malik, Sachin B; Kwan, Damon; Shah, Amar B; Hsu, Joe Y
Knowledge of right atrial anatomic and pathologic imaging findings and associated clinical symptoms is important to avoid false-positive diagnoses and missed findings. Complete evaluation of the heart often requires a multimodality approach that includes radiography, echocardiography, computed tomography (CT), magnetic resonance (MR) imaging, and invasive angiography. In general, CT provides the highest spatial resolution of these modalities at the cost of radiation exposure to the patient. Echocardiography and MR imaging offer complementary and detailed information for functional evaluation without added radiation exposure. The advantages and disadvantages of each modality for the evaluation of right atrial anatomic structure, size, and pathologic findings are discussed. Cardiac MR imaging is the reference standard for evaluation of right atrial size and volume but often is too time consuming and resource intensive to perform in routine clinical practice. Therefore, established reference ranges for two-dimensional transthoracic echocardiography are often used. Right atrial pathologic findings can be broadly categorized into (a) congenital anomalies (cor triatriatum dexter, Ebstein anomaly, and aneurysm), (b) disorders of volume (tricuspid regurgitation, pathologic mimics such as a pseudoaneurysm, and atrial septal defect), (c) disorders of pressure (tricuspid stenosis, restrictive cardiomyopathy, and constrictive pericarditis), and (d) masses (pseudomasses, thrombus, lipomatous hypertrophy of the interatrial septum, lipoma, myxoma, sarcoma, and metastatic disease). Familiarity with each pathologic entity and its treatment options is essential to ensure that appropriate imaging modalities are selected. Online supplemental material is available for this article. RSNA, 2015
Kapodistrias, Nikolaos; Mavridis, Konstantinos; Batistatou, Anna; Gogou, Penelope; Karavasilis, Vasilios; Sainis, Ioannis; Briasoulis, Evangelos; Scorilas, Andreas
Liposarcoma (LPS) is a malignancy with extreme heterogeneity and thus optimization towards personalizing patient prognosis and treatment is essential. Here, we evaluated miR-155, miR-21, miR-143, miR-145 and miR-451 that are implicated in LPS, as novel FFPE tissue biomarkers. A total of 83 FFPE tissue specimens from primary LPS and lipomas (LPM) were analyzed. A proteinase K incubation-Trizol treatment coupled protocol was used for RNA isolation. After polyadenylation of total RNA and reverse transcription, expression analysis of 9 candidate reference and 5 target miRNAs was performed by qPCR. Genorm and NormFinder were used for finding the most suitable molecules for normalization. Survival analyses were performed in order to evaluate the prognostic potential of miRNAs. MiR-103 and miR-191 are most suitable for normalization of miRNA expression in LPS. MiR-155 and miR-21 are clearly overexpressed (P<0.001) in LPS compared with LPM specimens, whereas miR-145 (P<0.001), miR-143 (P =0.008) and miR-451 (P=0.037) are underexpressed. MiR-155 (P=0.007) and miR-21 (P=0.029) are differentially expressed between well-differentiated, dedifferentiated, myxoid/round cell and pleomorphic LPs tumor subtypes. MiR-155 represents a novel independent indicator of unfavorable prognosis in LPS (HR = 2.97, 95% CI = 1.23–7.17, P = 0.016). PMID:28036291
Kim, Hoon; Ryu, Wan Cheol; Yoon, Chi Sun; Kim, Kyu Nam
Abstract Effective obliteration of dead space after reconstructive surgery facilitates a good cosmetic outcome and prevention of delayed wound healing and recurrent infection. We evaluated the efficacy of a keystone-designed buried de-epithelialized (KBD) flap for the obliteration of small to moderately sized surgical dead spaces. We reviewed the medical records of patients who received a KBD flap following removal of a mass or debridement of necrotic tissue from September 2015 to February 2016. The diagnosis, site, dead space dimensions, flap width, drain data, complications, and follow-up duration were recorded. Twenty-eight KBD flaps were evaluated, including 9 cases of fat necrosis, 7 cases of epidermal cyst, and 12 cases of lipoma. Dead space dimensions ranged from 2 × 1.5 × 1 cm to 10 × 5 × 3 cm, with a mean depth of 2.01 cm. Flap sizes ranged from 2.5 × 1 cm to 11 × 3 cm, with a mean flap width of 2.01 cm. No postoperative complications, such as seroma or hematoma, occurred. The cosmetic results were favorable, and all patients were satisfied with their final outcomes. The KBD flap is useful for the obliteration of small to moderately sized surgical dead spaces both spatially and physiologically and shows excellent cosmetic outcomes. PMID:28538418
Florea, Simona Mihaela; Faure, Alice; Brunel, Hervé; Girard, Nadine; Scavarda, Didier
The embryological development of the central nervous system takes place during the neurulation process, which includes primary and secondary neurulation. A new form of dysraphism, named junctional neural tube defect (JNTD), was recently reported, with only 4 cases described in the literature. The authors report a fifth case of JNTD. This 5-year-old boy, who had been operated on during his 1st month of life for a uretero-rectal fistula, was referred for evaluation of possible spinal dysraphism. He had urinary incontinence, clubfeet, and a history of delayed walking ability. MRI showed a spinal cord divided in two, with an upper segment ending at the T-11 level and a lower segment at the L5-S1 level, with a thickened filum terminale. The JNTDs represent a recently classified dysraphism caused by an error during junctional neurulation. The authors suggest that their patient should be included in this category as the fifth case reported in the literature and note that this would be the first reported case of JNTD in association with a lipomatous filum terminale.
Bellini, Elisa; Grieco, Michele P; Raposio, Edoardo
Nowadays, liposuction is the most frequently performed aesthetic surgery procedure in Western Countries. This technique has had rapid development since the 1970s, when it was experimented for the first time by A. and G. Fischer. It is currently widely used in clinical practice for many different situations in aesthetic, reconstructive and functional fields. This review aims to describe the historical evolution of liposuction by analyzing the transformation of the method in function of the introduction of innovative ideas or instruments. We have also focused on reporting the major clinical applications of this surgical technique, applicable to almost the entire body surface. We finally analyzed the complications, both major and minor, associated with this surgical technique. Liposuction is mainly used to correct deep and superficial fat accumulations and remodel the body contour. It has become an essential complementary technique to enhance the aesthetic result of many other aesthetic procedures such as reduction mammoplasty, abdominoplasty, brachioplasty, thigh lift and post bariatric body contouring. However, it can be largely used for the treatment of innumerable pathologies in reconstructive surgery such as lipomas, lipedema, lipodystrophies, pneudogynecomastia and gynecomastia, macromastia e gigantomastia, lymphedema and many others. The complication rate is very low, especially when compared with conventional excisional surgery and the major, complications are generally associated with improper performance of the technique and poor patient management before and after surgery. Liposuction is a safe, simple and effective method of body contouring. It has enormous potential for its application in ablative and reconstructive surgery, far from the most common aesthetic processes with a very low complication rate.
Jahns, H; Callanan, J J; McElroy, M C; Sammin, D J; Bassett, H F
Little is known of the common diseases of hunting dogs or of the reasons why they are culled. To address these questions, necropsy examinations were conducted on 52 hounds aged 1.5-12 years (mean 6.5 ± 2.5 years) and culled from 10 Irish hunting kennels over a 3-year period. Progressive systemic disease was seen in six dogs only and encompassed individual cases of tuberculosis caused by Mycobacterium bovis, bronchioalveolar carcinoma with metastasis to regional lymph nodes, renal amyloidosis, suppurative pneumonia, extramedullary plasmacytoma in the atrial wall of the heart and foreign body-induced hepatitis with focal peritonitis. Single or multiple localized tumours were identified in five dogs and, apart from the aforementioned, included two cutaneous haemangiomas, a trichoepithelioma, a lipoma and a mammary ductal adenoma. Three dogs were culled for lameness; one of these dogs had torn musculature, another had cellulitis and the third had a healed fracture of the tibia and fibula. Chronic renal changes were present in 48% of the dogs and included focal proliferative, exudative or crescentic glomerulonephritis (33%) or low-grade interstitial inflammatory changes (50%). The most frequently diagnosed skin lesions reported in this study were mild healed decubitus ulcers (33%), scars (33%) and stereotypic dermatitis (13%). These findings indicate that hounds are likely to be culled for reasons other than the presence of disease in most cases. In addition, this survey highlights different disease patterns in hounds than are typically observed in pet dogs. Copyright © 2010 Elsevier Ltd. All rights reserved.
Gupta, Nalini; Kaur, Jasleen; Srinivasan, Radhika; Das, Ashim; Mohindra, Satyawati; Rajwanshi, Arvind; Nijhawan, Raje
To assess the spectrum of lesions in the sinonasal region diagnosed on FNAC. This is a retrospective audit of sinonasal lesions diagnosed on FNAC over a period of 12 years (1998-2009). Out of a total of 79,851 FNACs, 158 (0.2%) were from the sinonasal region. FNAC was non-diagnostic in 20 (12.6%) cases. Infective/inflammatory lesions comprised of 30 (19%) cases including non-specific inflammation (19), fungal infection (7), tuberculosis (2), actinomycosis (1) and filariasis (1). Benign cysts (24; 15.2%) included epidermal inclusion cysts, mucocele and aneurysmal bone cyst. Benign bone tumors (4) comprised of giant cell tumor, fibrous dysplasia, chondroma, and osteoblastoma. Other benign tumors included lipoma (6), hemangioma (5), schwannoma (2), meningioma (1), pleomorphic adenoma (1), sebaceous adenoma (1) and other skin adnexal tumors (3). Malignant epithelial tumors (24; 15.2%) included squamous cell carcinoma (10), basal cell carcinoma (5), poorly differentiated carcinoma (4) and metastatic carcinoma (5). Two cases of chordoma and one case each of dermatofibrosarcoma pertuberance and hemangiopericytoma were seen. Sarcomas included sarcoma, not otherwise specified (4), rhabdomyosarcoma (3), osteosarcoma (2), chondrosarcoma (2), leiomyosarcoma (1), malignant fibrous histiocytoma (1), fibrosarcoma (1) and malignant peripheral nerve sheath tumor (1). There were cases of malignant small round cell tumor (11), non-Hodgkin lymphoma (3), plasmacytoma (2) and malignant melanoma (2). A variety of non-neoplastic and neoplastic conditions can involve the sinonasal region. FNAC is a reliable diagnostic procedure in a good number of cases, especially in the light of clinico-radiological data. Copyright © 2011 S. Karger AG, Basel.
Pakhrin, Bidur; Kang, Min-Soo; Bae, Il-Hong; Park, Mi-Sun; Jee, Hyang; You, Mi-Hyeon; Kim, Jae-Hoon; Yoon, Byung-Il; Choi, Yang-Kyu
Over the 42 month period from January 2003 to June 2006, a total of 2,952 canine biopsy specimens were received from the Veterinary Medical Teaching Hospital of Seoul National University and from veterinary practitioners across the nation. Out of these, 748 (25.34%) cases were diagnosed as canine cutaneous tumors in the Department of Veterinary Pathology, College of Veterinary Medicine, Seoul National University, Korea. Thirty-eight different types of cutaneous tumors were identified and categorized into epithelial and melanocytic tumors (56.95%), mesenchymal tumors (38.90%), and hematopoietic tumors (4.14%) located in the skin. Among these, 69.25% were benign and 30.74% were malignant. The top ten most frequently diagnosed cutaneous tumors were epidermal and follicular cysts (12.70%), lipoma (11.36%), mast cell tumors (8.82%), cutaneous histiocytoma (7.49%), basal cell tumors (6.82%), sebaceous gland adenoma (6.68%), sebaceous gland hyperplasia (5.08%), hepatoid gland adenoma (3.61%), apocrine adenocarcinoma (3.07%), and fibroma (2.81%), in order of prevalence. They comprised 68.45% of all cutaneous tumors. These top ten cutaneous tumors were distributed on the trunk (30.08%), head and neck (20.9%), extremities (19.14%), anal and perianal area (8.59%), and tail (3.91%). The age of the dogs with the ten most frequent tumors had a mean age of 8.3 years, with a range of 2 months to 19 years. When all types of tumors were considered together in the entire population, there was no difference in incidence according to sex. PMID:17679768
Do, Duc H; Bradfield, Jason; Ajijola, Olujimi A; Vaseghi, Marmar; Le, John; Rahman, Siamak; Mahajan, Aman; Nogami, Akihiko; Boyle, Noel G; Shivkumar, Kalyanam
Novel therapies aimed at modulating the autonomic nervous system, including thoracic epidural anesthesia (TEA), have been shown in small case series to be beneficial in treating medically refractory ventricular tachycardia (VT) storm. However, it is not clear when these options should be considered. We reviewed a multicenter experience with TEA in the management of VT storm to determine its optimal therapeutic use. Data for 11 patients in whom TEA was instituted for VT storm between July 2005 and March 2016 were reviewed to determine the clinical characteristics, outcomes, and role in management. The clinical presentation was incessant VT in 7 (64%), with polymorphic VT in 3 (27%) and monomorphic VT in 8 (73%). The underlying conditions were nonischemic cardiomyopathy in 5 (45%), ischemic cardiomyopathy in 3 (27%), and hypertrophic cardiomyopathy, Brugada syndrome, and cardiac lipoma in 1 (9%) each. Five (45%) had a complete and 1 (9%) had a partial response to TEA; 4 of the complete responders had incessant VT. All 4 patients with a documented response to deep sedation demonstrated a complete response to TEA. More than half of the patients with VT storm in our series responded to TEA. TEA may be effective and should be considered as a therapeutic option in patients with VT storm, especially incessant VT, who are refractory to initial management. Improvement in VT burden with deep sedation may suggest that sympathoexcitation plays a key role in perpetuating VT and predict a positive response to TEA. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.
Batista, Bernardo N; Germain, Michel; Faria, José Carlos M; Becker, Corinne
Previous authors have shown benefits from the use of lymph node flap transfer (LNFT) to treat lymphedema of the arms, but there is little evidence for its use for lower limb lymphedema. We performed a retrospective analysis of a series of patients suffering from secondary lower limb lymphedema treated with a free LNFT. 52 cases of LNFT to treat 41 legs in 38 patients with secondary lymphedema were retrospectively reviewed. The causes of the lymphedema included lymphedema secondary to hysterectomy for uterine cancer, melanoma resections on the leg, lymphoma treatment and testicular cancer, cosmetic surgery to the limb, lipoma resection at the inguinal region, and a saphenectomy. Patients had been suffering with lymphedema for an average of 9.1 ± 7.3 years at the time of LNFT. Eleven patients (28.9%) presented with minor complications treated conservatively. For 23 legs there was enough data to follow limb volume evolution after a single LNFT. Total volume reduction in eight legs (two patients with no measures of the healthy limb and three bilateral) was 7.1 ± 8.6%. Another group of 15 patients with unilateral lymphedema had an average 46.3 ± 34.7% reduction of excess volume. Better results (>30% REV) were associated with smaller preoperative excess volume (P = 0.045). Patients with secondary leg lymphedema can benefit from LNFT. Results in patients with mild presentations seem to be better than in more severe cases. © 2014 Wiley Periodicals, Inc. Microsurgery 37:29-33, 2017. © 2015 Wiley Periodicals, Inc.
Laribière, Anne; Miremont-Salamé, Ghada; Reyre, Hadrien; Abouelfath, Abdelilah; Liège, Ludovic; Moore, Nicholas; Haramburu, Françoise
To describe adverse events occurring after mass vaccination with conjugate and nonconjugate vaccines and to assess the incidence of serious adverse effects. A mass immunisation campaign against meningococcal C disease was conducted in two French administrative areas, Landes and Pyrénées atlantiques, for 2 months (from October to December 2002). Adverse events were reported by families and physicians by means of a specific reporting form returned to the pharmacovigilance centre 15 days after vaccination. The target population was 260,630 individuals aged between 2 months and 24 years. About 179,000 children and young adults were vaccinated. A total of 92,711 report forms were received by the pharmacovigilance centre, and 12,695 subjects presented at least one adverse event. The most frequently involved systems/disorders were application site disorders (48.4%), whole-body general disorders (21.8%), central and peripheral nervous system disorders (14.6%), and gastrointestinal system disorders (4.7%). Most of these adverse events were transient and not serious. There were 13 serious adverse events: one each of syncope, fever, headache with fever, neuralgia, serum sickness, arthritis, purpura, facial paralysis, multiple sclerosis, lipoma, and meningism, and two cases of bronchospasm. No significant difference was found in rates of adverse event reports between both vaccines. The estimated incidence of serious adverse effect reports was 7 per 100,000. This campaign was the second immunisation campaign undertaken in France involving both physicians and families as reporters. Although unlabeled adverse effects were identified during this campaign, they were mostly nonserious and have been known to occur with other vaccines.
Menias, Christine O.; Gaballah, Ayman H.; Shroff, Stuti; Taggart, Melissa W.; Garg, Naveen; Elsayes, Khaled M.
Intramural gastric masses arise in the wall of the stomach (generally within the submucosa or muscularis propria), often with intact overlying mucosa. These tumors are typically mesenchymal in origin and have overlapping radiologic appearances. A combination of features such as location, attenuation, enhancement, and growth pattern may suggest one diagnosis over another. Gastrointestinal stromal tumors (GISTs) account for the majority of intramural tumors and can vary widely in appearance, from small intraluminal lesions to exophytic masses that protrude into the peritoneal cavity, commonly with areas of hemorrhage or necrosis. A well-circumscribed mass measuring −70 to −120 HU is a lipoma. Leiomyomas usually manifest as low-attenuation masses at the gastric cardia. Homogeneous attenuation is a noteworthy characteristic of schwannomas, particularly for larger lesions that might otherwise be mistaken for GISTs. A hypervascular mass in the antrum is a common manifestation of glomus tumors. Hemangiomas are also hypervascular but often manifest in childhood. Inflammatory fibroid polyps usually arise as a polypoid mass in the antrum. Inflammatory myofibroblastic tumors are infiltrative neoplasms with a propensity for local recurrence. Plexiform fibromyxomas are rare, usually antral tumors. Carcinoid tumors are epithelial in origin, but often submucosal in location, and therefore should be distinguished from other intramural lesions. Multiple carcinoid tumors are associated with hypergastrinemia, either in the setting of chronic atrophic gastritis or Zollinger-Ellison syndrome. Sporadic solitary carcinoid tumors not associated with hypergastrinemia have a higher rate of metastasis. Histopathologic analysis, including immunohistochemistry, is usually required for diagnosis of intramural masses. © RSNA, 2013 PMID:24108557
Marini, Francesca; Falchetti, Alberto; Monte, Francesca Del; Sala, Silvia Carbonell; Gozzini, Alessia; Luzi, Ettore; Brandi, Maria Luisa
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. It occurs in approximately one in 30,000 individuals. Two different forms, sporadic and familial, have been described. The sporadic form presents with two of the three principal MEN1-related endocrine tumours (parathyroid adenomas, entero-pancreatic tumours and pituitary tumours) within a single patient, while the familial form consists of a MEN1 case with at least one first degree relative showing one of the endocrine characterising tumours. Other endocrine and non-endocrine lesions, such as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract and thymus, lipomas, angiofibromas, collagenomas have been described. The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. This gene is probably involved in the regulation of several cell functions such as DNA replication and repair and transcriptional machinery. The combination of clinical and genetic investigations, together with the improving of molecular genetics knowledge of the syndrome, helps in the clinical management of patients. Treatment consists of surgery and/or drug therapy, often in association with radiotherapy or chemotherapy. Currently, DNA testing allows the early identification of germline mutations in asymptomatic gene carriers, to whom routine surveillance (regular biochemical and/or radiological screenings to detect the development of MEN1-associated tumours and lesions) is recommended. PMID:17014705
Dunkel, Bettina; Buonpane, Alexandra; Chang, Yu-Mei
Clinical impression suggests that some gastrointestinal lesions are more common in certain horse types. The study tested the hypothesis that relative prevalence of acute gastrointestinal lesions differs between equid types. In a retrospective caseâ€"control study, records (2010â€"2015) were reviewed for equids with acute gastrointestinal disease. Signalment, details of gastrointestinal lesions and diagnoses were recorded. Animals were categorised as miniature type, pony, Arabian, light breed or draft type. Exclusion criteria were no recorded breed/size/diagnosis, age less than one year and donkeys. Using binary logistic regression the influence of type, sex and age on lesion location, nature and diagnoses were investigated. 575 animals (33 miniature types, 136 ponies, 335 light breed types, 17 Arabians and 54 draft types) were included. Using light breed types as reference, ponies (including miniatures) had decreased odds of colon displacements (OR 0.11; 95 per cent CI 0.05 to 0.24; P<0.001) and ponies alone had increased odds of strangulation of the small intestine by lipomas (OR 2.3; 95 per cent CI 1.3 to 4.1; P=0.004). Miniature types had decreased odds of strangulating small intestinal lesions (OR 0.1; 95 per cent CI 0.01 to 0.83; P=0.033) and draft types had increased odds of caecal conditions (OR 9.0; 95 per cent CI 2.3 to 34.8; P<0.001). In conclusion, equid type influences development of gastrointestinal lesions. © British Veterinary Association (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Downs-Canner, Stephanie; Van der Vliet, Wald J; Thoolen, Stijn J J; Boone, Brian A; Zureikat, Amer H; Hogg, Melissa E; Bartlett, David L; Callery, Mark P; Kent, Tara S; Zeh, Herbert J; Moser, A James
Benign duodenal and periampullary tumors are uncommon lesions requiring careful attention to their complex anatomic relationships with the major and minor papillae as well as the gastric outlet during surgical intervention. While endoscopy is less morbid than open resection, many lesions are not amenable to endoscopic removal. Robotic surgery offers technical advantages above traditional laparoscopy, and we demonstrate the safety and feasibility of this approach for a variety of duodenal lesions. We performed a retrospective review of all robotic duodenal resections between April 2010 and December 2013 from two institutions. Demographic, clinicopathologic, and operative details were recorded with special attention to the post-operative course. Twenty-six patients underwent robotic duodenal resection for a variety of diagnoses. The majority (88 %) were symptomatic at presentation. Nine patients underwent transduodenal ampullectomy, seven patients underwent duodenal resection, six patients underwent transduodenal resection of a mass, and four patients underwent segmental duodenal resection. Median operative time was 4 h with a median estimated blood loss of 50 cm(3) and no conversions to an open operation. The rate of major Clavien-Dindo grades 3-4 complications was 15 % at post-operative days 30 and 90 without mortality. Final pathology demonstrated a median tumor size of 2.9 cm with a final histologic diagnoses of adenoma (n = 13), neuroendocrine tumor (n = 6), gastrointestinal stromal tumor (GIST) (n = 2), lipoma (n = 2), Brunner's gland hamartoma (n = 1), leiomyoma (n = 1), and gangliocytic paraganglioma (n = 1). Robotic duodenal resection is safe and feasible for benign and premalignant duodenal tumors not amenable to endoscopic resection.
Tani, Edneia; Wejde, Johan; Åström, Kristina; Wingmo, Inga-Lill; Larsson, Olle; Haglund, Felix
Solitary fibrous tumors (SFTs) are rare mesenchymal tumors commonly located in the pleura, soft tissues, or meninges and are characterized by the NGFI-A-binding protein 2 (NAB2)-signal transducer and activator of transcription 6 (STAT6) fusion gene. Recent studies have indicated that nuclear STAT6 immunohistochemistry is a specific marker for SFTs. The authors reviewed fine-needle aspiration (FNA) specimens from extracranial SFTs diagnosed at their institution between 1993 and 2017. Histologic blocks and available formalin-fixed smears of FNA specimens from SFTs were investigated for STAT6 immunoreactivity using a monoclonal antibody. STAT6 immunocytochemistry was also investigated in schwannomas and spindle cell lipomas. Cytopathologic and clinical characteristics were described. Nineteen benign and 9 malignant SFTs were identified. Both benign and malignant SFTs had a female predominance (female-to-male ratio, 2.8:1 and 1.25, respectively). Localization varied, and approximately one-half of the extrapleural tumors were located in the extremities and frequently were intramuscular. Benign and malignant primary tumors had limited differences in cytologic presentation, the most notable feature being nuclear pleomorphism. Cytomorphologic features included low-to-moderate cellularity of mixed oval, elongated, round, and stellate cells with pink collagenous stroma and hypercellular clusters with infrequent atypia. In metastatic SFTs, the cytopathology was suggestive of sarcoma. Immunohistochemistry revealed nuclear STAT6 immunoreactivity in SFTs (n = 5) with cytoplasmic reactivity in cytologic mimickers. Benign and malignant SFTs have common cytopathologic features, and the ability to distinguish between them is limited. Nuclear STAT6 immunoreactivity is a valuable cytologic marker for SFTs. Cancer Cytopathol 2018;126:36-43. © 2017 American Cancer Society. © 2017 American Cancer Society.
van Assen, Tijmen; de Jager-Kievit, Jenneke W A J; Scheltinga, Marc R; Roumen, Rudi M H
The abdominal wall is often neglected as a cause of chronic abdominal pain. The aim of this study was to identify chronic abdominal wall pain syndromes, such as anterior cutaneous nerve entrapment syndrome (ACNES), in a patient population diagnosed with functional abdominal pain, including irritable bowel syndrome, using a validated 18-item questionnaire as an identification tool. In this cross-sectional analysis, 4 Dutch primary care practices employing physicians who were unaware of the existence of ACNES were selected. A total of 535 patients ≥18 years old who were registered with a functional abdominal pain diagnosis were approached when they were symptomatic to complete the questionnaire (maximum 18 points). Responders who scored at least the 10-point cutoff value (sensitivity, 0.94; specificity, 0.92) underwent a diagnostic evaluation to establish their final diagnosis. The main outcome was the presence and prevalence of ACNES in a group of symptomatic patients diagnosed with functional abdominal pain. Of 535 patients, 304 (57%) responded; 167 subjects (31%) recently reporting symptoms completed the questionnaire. Of 23 patients who scored above the 10-point cutoff value, 18 were available for a diagnostic evaluation. In half of these subjects (n = 9) functional abdominal pain (including IBS) was confirmed. However, the other 9 patients were suffering from abdominal wall pain syndrome, 6 of whom were diagnosed with ACNES (3.6% prevalence rate of symptomatic subjects; 95% confidence interval, 1.7-7.6), whereas the remaining 3 harbored a painful lipoma, an abdominal herniation, and a painful scar. A clinically relevant portion of patients previously diagnosed with functional abdominal pain syndrome in a primary care environment suffers from an abdominal wall pain syndrome such as ACNES.
Caspar, Thibault; El Ghannudi, Soraya; Ohana, Mickaël; Labani, Aïssam; Lawson, Aubrietia; Ohlmann, Patrick; Morel, Olivier; De Mathelin, Michel; Roy, Catherine; Gangi, Afshin; Germain, Philippe
The purpose of this work was to evaluate CMR T1 and T2 mapping sequences in patients with intracardiac thrombi and masses in order to assess T1 and T2 relaxometry usefulness and to allow better etiological diagnosis. This observational study of patients scheduled for routine CMR was performed from September 2014 to August 2015. All patients referred to our department for a 1.5 T CMR were screened to participate. T1 mapping were acquired before and after Gadolinium injection; T2 mapping images were obtained before injection. 41 patients were included. 22 presented with cardiac thrombi and 19 with cardiac masses. The native T1 of thrombi was 1037 ± 152 ms (vs 1032 ± 39 ms for myocardium, p = 0.88; vs 1565 ± 88 ms for blood pool, p < 0.0001). T2 were 74 ± 13 ms (vs 51 ± 3 ms for myocardium, p < 0.0001; vs 170 ± 32 ms for blood pool, p < 0.0001). Recent thrombi had a native T1 shorter than old thrombi (911 ± 177 vs 1169 ± 107 ms, p = 0.01). The masses having a shorter T1 than the myocardium were lipomas (278 ± 29 ms), calcifications (621 ± 218 ms), and melanoma (736 ms). All other masses showed T1 values higher than myocardial T1, with T2 consistently >70 ms. T1 and T2 mapping CMR sequences can be useful and represent a new approach for the evaluation of cardiac thrombi and masses.
Becker, M; Moulin, G; Kurt, A M; Dulgerov, P; Vukanovic, S; Zbären, P; Marchal, F; Rüfenacht, D A; Terrier, F
A variety of benign and malignant non-squamous cell neoplasms may affect the larynx. Most of these uncommon laryngeal neoplasms are located beneath an intact mucosa, making diagnosis difficult with endoscopy alone, and sampling errors may occur if only traditional superficial biopsies are performed. In some laryngeal neoplasms, radiologic evaluation allows the correct diagnosis. Hemangiomas have very high signal intensity at T2-weighted magnetic resonance (MR) imaging and strong enhancement at both computed tomography (CT) and MR imaging after administration of contrast material. Phleboliths, which are pathognomonic for hemangiomas, are easily identified at CT. Chondrogenic tumors typically manifest with coarse or stippled calcifications at CT. Because of their high water content, chondrogenic tumors have very high signal intensity on T2-weighted MR images, whereas only moderate enhancement is observed after administration of contrast material. Lipomas typically manifest at both CT and MR imaging as homogeneous nonenhancing lesions. They are isoattenuating to subcutaneous fat at CT and isointense relative to subcutaneous fat with all MR pulse sequences. Metastases from renal adenocarcinoma typically demonstrate strong contrast enhancement and flow voids at MR imaging, and metastases from melanotic melanoma usually have high signal intensity on T1-weighted MR images and low signal intensity on T2-weighted images owing to the paramagnetic properties of melanin. Although radiologic findings are nonspecific in most other non-squamous cell neoplasms of the larynx (eg, Kaposi sarcoma, hematopoietic tumors, tumors of the minor salivary glands, metastases from amelanotic melanoma), cross-sectional imaging can play an important role in the diagnostic work-up of these unusual tumors by delineating the extent of submucosal tumor spread and directing the endoscopist to the appropriate site for the deep, transmucosal biopsies needed to establish the diagnosis. In addition, CT
Fernández-Ibieta, M; Rojas Ticona, J; Villamil, V; Guirao Piñera, M J; López García, A; Zambudio Carmona, G
In the historical series, the diagnostic yield of lumbosacral magnetic resonance imaging to rule out occult spinal dysraphism (or occult myelodysplasia), requested by paediatric urology, ranged from 2% to 15%. The aim of this study was to define our cost-effectiveness in children with urinary symptoms and to define endpoints that increase the possibility of finding occult spinal dysraphism. A screening was conducted on patients with urinary dysfunction for whom an magnetic resonance imaging was requested by the paediatric urology clinic, for persistent symptoms after treatment, voiding dysfunction or other clinical or urodynamic findings. We analysed clinical (UTI, daytime leaks, enuresis, voiding dysfunction, urgency, renal ultrasonography, lumbosacral radiography, history of acute urine retention, skin stigma and myalgia) and urodynamic endpoints (hyperactivity or areflexia, voiding dysfunction, interrupted pattern, accommodation value and maximum flow). A univariate analysis was conducted with SPSS 20.0. We analysed 21 patients during the period 2011-2015. The median age was 6 years (3-10). Three patients (14.3%) had occult spinal dysraphism: one spinal lipoma, one filum lipomatosus and one caudal regression syndrome with channel stenosis. The endpoints with statistically significant differences were the myalgias and the history of acute urine retention (66.7% vs. 5.6%, P=.04; OR= 34; 95%CI: 1.5-781 for both endpoints). The diagnostic yield of magnetic resonance imaging requested for children with urinary dysfunctions without skin stigma or neuro-orthopaedic abnormalities is low, although nonnegligible. In this group, the patients with a history of acute urine retention and muscle pain (pain, «cramps») can experience a greater diagnostic yield or positive predictive value. Copyright © 2017 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.
Tran, Kim; Zajkowska, Marta; Lam, Vincent; Hawthorne, Wayne J.
Background and Objectives: Despite the exponential increase in the use of laparoscopic inguinal herniorrhaphy, overall recurrence rates have remained unchanged. Therefore, a growing number of patients are presenting with recurrent hernias after conventional anterior and laparoscopic repairs have failed. This study reports our experience with single-incision laparoscopic (SIL) intraperitoneal onlay mesh (IPOM) repair of these hernias. Methods: Patients referred with two or more recurrences of inguinal hernia underwent SIL-IPOM from November 1, 2009, to June 24, 2014. A 2.5-cm infraumbilical incision was made, and an SIL port was placed intraperitoneally. Modified dissection techniques were used: chopstick and inline dissection, 5.5-mm/52-cm/30° angled laparoscope, and conventional straight dissecting instruments. The peritoneum was incised above the pubic symphysis, and dissection was continued laterally and proximally, raising the inferior flap below the previous extraperitoneal mesh while reducing any direct, indirect, femoral, or cord lipoma before placement of antiadhesive mesh, which was fixed to the pubic ramus, as well as superiorly, with nonabsorbable tacks before the inferior border was fixed with fibrin sealant. The inferior peritoneal flap was then tacked back onto the mesh. Results: Nine male patients underwent SIL-IPOM. Their mean age was 53 years and mean body mass index was 26.8 kg/m2. Mean mesh size was 275 cm2. Mean operation time was 125 minutes, with a hospital stay of 1 day. The umbilical scar length was 23 mm at the 6-week follow-up. There were no intra-/postoperative complications, port-site hernias, chronic groin pain, or recurrence of the hernia during a mean follow-up of 24 months. Conclusion: Inguinal hernias recurring after two or more failed conventional anterior and laparoscopic repairs can be safely and efficiently treated with SIL-IPOM. PMID:25848186
Tran, Kim; Zajkowska, Marta; Lam, Vincent; Hawthorne, Wayne
Introduction: Despite an exponential rise in laparoscopic surgery for inguinal herniorrhaphy, overall recurrence rates have remained unchanged. Therefore, an increasing number of patients present with recurrent hernias after having failed anterior and laparoscopic repairs. This study reports our experience with single-incision laparoscopic (SIL) intraperitoneal onlay mesh (IPOM) repair for these hernias. Materials and methods: All patients referred with multiply recurrent inguinal hernias underwent SIL-IPOM from November 1 2009 to October 30 2013. A 2.5-cm infraumbilical incision was made and a SIL surgical port was placed intraperitoneally. Modified dissection techniques, namely, “chopsticks” and “inline” dissection, 5.5 mm/52 cm/30° angled laparoscope and conventional straight dissecting instruments were used. The peritoneum was incised above the symphysis pubis and dissection continued laterally and proximally raising an inferior flap, below a previous extraperitoneal mesh, while reducing any direct/indirect/femoral/cord lipoma before placement of antiadhesive mesh that was fixed into the pubic ramus as well as superiorly with nonabsorbable tacks before fixing its inferior border with fibrin sealant. The inferior peritoneal flap was then tacked back onto the mesh. Results: There were 9 male patients who underwent SIL-IPOM. Mean age was 55 years old and mean body mass index was 26.8 kg/m2. Mean mesh size was 275 cm2. Mean operation time was 125 minutes with hospital stay of 1 day and umbilical scar length of 21 mm at 4 weeks' follow-up. There were no intraoperative/postoperative complications, port-site hernias, chronic groin pain, or recurrence with mean follow-up of 20 months. Conclusions: Multiply recurrent inguinal hernias after failed conventional anterior and laparoscopic repairs can be treated safely and efficiently with SIL-IPOM. PMID:25392643
Rojas-Temahuay, Gabriela; Crain, Sarah; Benson, Catherine; Sharkey, Leslie; Nothnagel, Geneva
A 5-year-old neutered male Mastiff and an 8-year-old spayed female Labrador Retriever were presented to the University of Minnesota Veterinary Medical Center. The Mastiff was presented for evaluation of lameness and pyoderma one month prior in Missouri, where he tested positive for Ehrlichia canis by serum ELISA test, treated with doxycycline. PCR for Ehrlichia sp, Anaplasma sp, Babesia sp, and Bartonella sp, and PCR for antigen receptor rearrangement were negative, serum protein electrophoresis (SPE) revealed polyclonal gammopathy, and mildly reactive lymphoid cells were seen cytologically. The Labrador presented with a proliferative rostral mandibular gingival mass and lipomas for further presurgical evaluation of cold agglutinin activity documented by a commercial laboratory 2 years earlier prior to removal of a grade II mast cell tumor. This dog had a negative SNAP4Dx, normal SPE, and persistently increased serum ALP activity and polyuria/polydipsia suggestive for hyperadrenocorticism. Both dogs had markedly agglutinated RBC in the EDTA samples that dispersed with warming, and normal plasma color. Cold agglutinin activity was demonstrated by direct saline agglutination testing using whole blood and washed erythrocytes demonstrating agglutination at 30°C, 25°C, 15°C, and 4°C, but not at 37°C. CBC results (ADVIA 2120i) from the Mastiff revealed no significant differences in the RBC results obtained at room temperature (RT) and at 37°C; however, the RT run demonstrated negative bias in neutrophil and platelet concentrations attributed to rapid RBC settling. This uncommon hematologic condition may cause artifacts on the automated leukogram and platelet count, and may be subclinical for long periods. © 2014 American Society for Veterinary Clinical Pathology and European Society for Veterinary Clinical Pathology.
Bilqees, Fatima; Samina, Khaleeq; Mohammad, Tahir; Khaleeq-uz-Zamaan
Recent studies, including a comprehensive study by National Cancer Institute, have shown that a significant increase in the incidence of childhood brain tumours makes them the most common paediatric tumour. The objectives of this study were to determine the frequency of central nervous system tumours in paediatric age group (0-12 years), and to segregate various morphologic types according to WHO classification. The study included consecutive cases of central nervous system tumours diagnosed in children in the histopathology department at Federal Government Polyclinic, PGMI, Islamabad, during a period of 4.8 years (Jan 2009-Aug 2013). The initial histopathological evaluation of these lesions was performed on H&E stained sections of paraffin embedded tissues. Special stains and immunohistochemistry were performed whenever indicated. Out of 75 cases, 34 (45.3%) were astrocytic tumours, including 16 (47.1%) Pilocytic astrocytomas (WHO Grade-I), 1 (2.9%) diffuse fibrillary astrocytoma (WHO Grade-II), 1 (2.9%) anaplastic astrocytoma (WHO Grade-III) and 16(47.1%) glioblastoma multiforme (WHO Grade-IV); 18 (24%) were embryonal tumours including 17 (94.4%) medulloblastoma (WHO Grade-IV) and 1 (5.6%) neuroblastoma (WHO Grade IV); 10 (13.3%) were craniopharyngiomas (WHO Grade-I) and 5 (6.7%) were ependymal tumours including 1 (20%) myxopapillary ependymoma (WHO Grade-I) and 4 (80%) ependymomas (WHO Grade-II). Miscellaneous entities included 3 (4%) choroid plexus tumours; 1 (2%) anaplastic oligodendroglioma (WHO Grade-III); 1 (2%) atypical meningioma (WHO Grade-II); 1 (2%) schwannoma (WHO Grade-I); 1 (2%) neurofibroma (WHO Grade-I) and 1 (2%) lipoma (WHO Grade-I). Astrocytic tumours are the most common central nervous system tumours in paediatric age group and high grade lesions (WHO Grade-IV) constitute the largest category (45.3%).
Cernoch, Z; Sercl, M; Parízek, J; Lichý, J
CT findings are evaluated in 103 children with vascular lesions (aged up to 15 years), and in 59 children with congenital cerebral and cerebellar malformations. Their maximum has been stated to occur perinatally due to hypoxic and ischemic brain affections. Therefore most of diagnostical problems were related to the differentiation of hypodense immature brain from ischemic changes. Mentioned findings were always correlated with clinical course. Similar confrontations along with earlier CT control examination may be helpful in distinguishing milder transitory postischemic oedema from serious necrotic and malatic changes. In more aged children, vascular lesions are of rare occurrence being different in etiology. More unambiguous CT patterns are obtained in vascular changes with hemorrhagies. Of special importance in their onset is a hypoxic attack with subsequent venous bleeding mainly into the germinative matrix. While well tolerated in premature newborns, the extensive hemorrhagies in on-term ones have worser prognosis, resulting in significant changes on control examination, predominantly hydrocephalus and porencephalia. Atrophies of various extent were the most common consequence of all encephalopathies of vascular origine. In almost a half of congenital brain and cerebellar anomalies, unsignificant findings of smaller middle line cavities were obtained predominantly in pellucide septum. From the serious findings, most frequent were different varieties of dysgenesis, hypogenesis up to agenesis of corpus callosum combined sometimes with either the lipomas or cysts. Another findings consisted in Dandy-Walker's cerebellar malformation, holoprosencephalia and only two patients manifested hydrencephalia and basal meningoencephalocele. Most of diagnostical effort has been made in mainly anomalies associated with ventriculomegalia and/or cystic formations in order to elucidate the eventual communication between the structures mentioned. In addition, CT ventriculo
Wada, Hidetoshi; Kimura, Taizo; Kawabe, Akihiro; Sato, Masanori; Miyaki, Yuichirou; Tochikubo, Junpei; Inamori, Kouji; Shiiya, Norihiko
Laparoscopic inguinal hernia repair is associated with a decrease in postoperative pain, shortened hospital stay, earlier return to normal activity, and decrease in chronic pain. Moreover, laparoscopic surgery performed with needlescopic instruments has more advantages than conventional laparoscopic surgery. However, there are few reports of large-scale laparoscopic transabdominal preperitoneal inguinal hernia repair using needlescopic instruments (nTAPP). This report reviews our experiences with 352 nTAPP in 317 patients during the 15-year period from April 1996 to April 2011. We performed nTAPP as the method of choice in 88.5% of all patients presenting with inguinal hernia. To perform the nTAPP, 3-mm instruments were used. A 5-mm laparoscope was inserted from the umbilicus, and surgical instruments were inserted through 5- and 3-mm trocars. After reduction of the hernia sac and dissection of the preperitoneal space, we placed polyester mesh or polypropylene soft mesh with staple fixation. The peritoneum was closed with 3-0 silk interrupted sutures. The mean operative time was 102.9 min for unilateral hernias and 155.8 min for bilateral hernias. There was no conversion to open repair. Forty-three patients (13.6%) used postoperative analgesics, and the mean frequency of use was 0.5 times. Regarding intraoperative complications, we observed one bladder injury, but no bowel injuries or major vessel injuries. Postoperative complications occurred in 32 patients (10.1%). One patient with a retained lipoma required reoperation. There was no incidence of chronic pain or mesh infection. The operative time for experienced surgeons (≥ 20 repairs) was significantly shorter than that of inexperienced surgeons (< 20 repairs; P < 0.05). The nTAPP was a safe and useful technique for inguinal hernia repair. Large prospective, randomized controlled trials will be required to establish the benefit of nTAPP.
Xu, Yongjun; Ogose, Akira; Kawashima, Hiroyuki; Hotta, Tetsuo; Ariizumi, Takashi; Li, Guidong; Umezu, Hajime; Endo, Naoto
Podoplanin is a 38 kDa mucin-type transmembrane glycoprotein that was first identified in rat glomerular epithelial cells (podocytes). It is expressed in normal lymphatic endothelium, but is absent from vascular endothelial cells. D2-40 is a commercially available mouse monoclonal antibody which binds to an epitope on human podoplanin. D2-40 immunoreactivity is therefore highly sensitive and specific for lymphatic endothelium. Recent investigations have shown widespread applications of immunohistochemical staining with D2-40 in evaluating podoplanin expression as an immunohistochemical marker for diagnosis and prognosis in various tumors. To determine whether the podoplanin (D2-40) antibody may be useful for the diagnosis of soft tissue tumors, 125 cases, including 4 kinds of benign tumors, 15 kinds of malignant tumors and 3 kinds of tumor-like lesions were immunostained using the D2-40 antibody. Total RNA was extracted from frozen tumor tissue obtained from 41 corresponding soft tissue tumor patients and 12 kinds of soft tissue tumor cell lines. Quantitative real-time PCR reactions were performed. Immunohistochemical and quantitative real-time RT-PCR analyses demonstrated the expression of the podoplanin protein and mRNA in the majority of benign and malignant soft tissue tumors and tumor-like lesions examined, with the exception of alveolar soft part sarcoma, embryonal and alveolar rhabdomyosarcoma, extraskeletal Ewing's sarcoma/peripheral primitive neuro-ectodermal tumor and lipoma, which were completely negative for podoplanin. Since it is widely and highly expressed in nearly all kinds of soft tissue tumors, especially in spindle cell sarcoma, myxoid type soft tissue tumors and soft tissue tumors of the nervous system, podoplanin is considered to have little value in the differential diagnosis of soft tissue tumors.
Scottoni, Federico; Iacobelli, Barbara Daniela; Zaccara, Antonio Maria; Totonelli, Giorgia; Schingo, Antonio Maria Salvatore; Bagolan, Pietro
Even if lumbar magnetic resonance imaging (MRI) is considered the gold standard in the diagnosis of occult spinal dysraphism (SD) in patients with anorectal malformations (ARMs), spinal ultrasound (US) performed up to 5 months of life have been largely used as a screening test. The aim of the present study was to evaluate the accuracy in terms of sensibility and specificity of neonatal US to detect occult SD in patients with ARMs. Retrospective analysis of all patients treated for ARMs between 1999 and 2013 at our institution who underwent both spinal US (up to 5 months of life) and MRI. Sensibility and specificity have been calculated for US based on MRI results. Of 244 patients treated for ARMs at our institution, 82 (34 females, 48 males) underwent both the imaging studies and have been included in this study. ARMs types were: anal stenosis (7), recto-vestibular fistula (19), recto-perineal fistula (3) and cloaca (5) in female and imperforate anus (7) recto-perineal fistula (14), recto-urethral fistula (22), recto-vesical fistula (5) in males. Forty-seven patients (57, 3 % of total, 18 females, 29 males) had some occult SD (tethered spinal cord, spinal lipoma, syringomyelia) at MRI. Only 7 (14, 8 %) patients of those with spinal anomalies at MRI had pathological US studies. In our population, sensibility and specificity of US for diagnosis of occult SD were, respectively, 14, 8 and 100 %. Since it is well known that a screening test must have a high sensibility, our data suggest that spinal ultrasound is not suitable as a screening test for occult spinal dysraphism in patients with ARMs. Furthermore, we strongly advise against the use of US as a screening test for spinal dysraphism to prevent a false sense of security in physician and patients' families.
Shurell, Elizabeth; Vergara-Lluri, Maria E.; Li, Yunfeng; Crompton, Joseph G.; Singh, Arun; Bernthal, Nicholas; Wu, Hong; Eilber, Fritz C.; Dry, Sarah M.
Background Immunotherapy targeting cancer-testis antigen NY-ESO-1 shows promise for tumors with poor response to chemoradiation. Malignant peripheral nerve sheath tumors (MPNSTs) and liposarcomas (LPS) are chemoresistant and have few effective treatment options. Materials Methods Using a comprehensive tissue microarray (TMA) of both benign and malignant tumors in primary, recurrent, and metastatic samples, we examined NY-ESO-1 expression in peripheral nerve sheath tumor (PNST) and adipocytic tumors. The PNST TMA included 42 MPNSTs (spontaneous n = 26, NF1-associated n = 16), 35 neurofibromas (spontaneous n = 22, NF-1 associated n = 13), 11 schwannomas, and 18 normal nerves. The LPS TMA included 48 well-differentiated/dedifferentiated (WD/DD) LPS, 13 myxoid/round cell LPS, 3 pleomorphic LPS, 8 lipomas, 1 myelolipoma, and 3 normal adipocytic tissue samples. Stained in triplicate, NY-ESO-1 intensity and density were scored. Results NY-ESO-1 expression was exclusive to malignant tumors. 100% of myxoid/round cell LPS demonstrated NY-ESO-1 expression, while only 6% of WD/DD LPS showed protein expression, one of which was WD LPS. Of MPNST, 4/26 (15%) spontaneous and 2/16 (12%) NF1-associated MPNSTs demonstrated NY-ESO-1 expression. Strong NY-ESO-1 expression was observed in myxoid/round cell and dedifferentiated LPS, and MPNST in primary, neoadjuvant, and metastatic settings. Conclusions We found higher prevalence of NY-ESO-1 expression in MPNSTs than previously reported, highlighting a subset of MPNST patients who may benefit from immunotherapy. This study expands our understanding of NY-ESO-1 in WD/DD LPS and is the first demonstration of staining in a WD LPS and metastatic/recurrent myxoid/round cell LPS. These results suggest immunotherapy targeting NY-ESO-1 may benefit patients with aggressive tumors resistant to conventional therapy. PMID:27655679
Shendre, Aditi; Wiener, Howard; Irvin, Marguerite R.; Zhi, Degui; Limdi, Nita A.; Overton, Edgar T.; Wassel, Christina L.; Divers, Jasmin; Rotter, Jerome I.; Post, Wendy S.; Shrestha, Sadeep
Background Local ancestry may contribute to the disproportionate burden of subclinical and clinical cardiovascular disease (CVD) among admixed African Americans (AAs) compared to other populations, suggesting a rationale for admixture mapping. Methods and Results We estimated local European ancestry (LEA) using Local Ancestry Inference in adMixed Populations using Linkage Disequilibrium (LAMP-LD) and evaluated the association with common carotid artery intima-media thickness (cCIMT) using multivariable linear regression analysis among 1,554 AAs from the Multi-Ethnic Study of Atherosclerosis (MESA). We conducted secondary analysis to examine the significant cCIMT-LEA associations with clinical CVD events. We observed genome-wide significance in relation to cCIMT association with the secretion regulating guanine nucleotide exchange factor (SERGEF) gene (β=0.0137, P=2.98×10−4), also associated with higher odds of stroke (odds ratio (OR)=1.71, P=0.02). Several regions, in particular Ca2+-dependent secretion activator 1 (CADPS) gene region identified in MESA were also replicated in the Atherosclerosis Risk in Communities (ARIC) cohort. We observed other cCIMT-LEA regions associated with other clinical events, most notably the regions harboring creatine kinase, mitochondrial 2 (CKMT2) and Ras protein specific guanine nucleotide releasing factor 2 (RASGRF2) genes with all clinical events except stroke, the leucine rich repeat containing 3B (LRRC3B) gene with myocardial infarction, the protein arginine methyltransferase 3 (PRMT3) gene with stroke, and the lipoma high mobility group protein I-C (HMGIC) fusion partner-like 2 (LHFPL2) gene with hard and all coronary heart disease. Conclusions We identified several novel LEA regions, in addition to previously identified genomic regions, associated with cCIMT and CVD events among African Americans. PMID:28408707
Kammerer-Jacquet, Solène-Florence; Thierry, Sixte; Cabillic, Florian; Lannes, Morgane; Burtin, Florence; Henno, Sébastien; Dugay, Frédéric; Bouzillé, Guillaume; Rioux-Leclercq, Nathalie; Belaud-Rotureau, Marc-Antoine; Stock, Nathalie
The differential diagnosis between atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) and dedifferentiated liposarcoma (DDLPS) from their morphologic counterparts is challenging. Currently, the diagnosis is guided by MDM2 and CDK4 immunohistochemistry (IHC) and is confirmed by the amplification of the corresponding genes. Recently, p16 IHC has been proposed as a useful diagnostic biomarker. The objective was to assess the utility of p16 IHC in the differential diagnosis of ALT/WDLPS and DDLPS. Our series included 101 tumors that were previously analyzed using fluorescence in situ hybridization for MDM2 and CDK4 amplification. We compared sensitivity and specificity of p16 IHC to MDM2 and CDK4 IHC in the differential diagnosis of ALT-WDLPS (n=19) versus benign adipocytic tumors (n=44) and DDLPS (n=18) versus mimicking sarcomas (n=20). In the differential diagnosis of ALT-WDLPS, p16 had a sensitivity of 89.5% but a specificity of 68.2%, which was impaired by false-positive lipomas with secondary changes, especially in biopsies. Likewise, in the differential diagnosis of DDLPS, p16 had a sensitivity of 94.4% and a specificity of 70%, which hampered its use as a single marker. However, adding p16 to MDM2 and/or CDK4 increased diagnostic specificity. Indeed, MDM2+/p16+ tumors were all ALT-WDLPS, and MDM2-/p16- tumors were all benign adipocytic tumors. Moreover, all MDM2+/CDK4+/p16+ tumors were DDLPS, and the MDM2-/CDK4-/p16- tumor was an undifferentiated sarcoma. Although the use of p16 as a single immunohistochemical marker is limited by its specificity, its combination with MDM2 and CDK4 IHC may help discriminate ALT-WDLPS/DDLPS. Copyright © 2016 Elsevier Inc. All rights reserved.
Wang, Xiaoke; Asmann, Yan W; Erickson-Johnson, Michele R; Oliveira, Jennifer L; Zhang, Hongying; Moura, Rafael D; Lazar, Alexander J; Lev, Dina; Bill, Katelynn; Lloyd, Ricardo V; Yaszemski, Michael J; Maran, Avudaiappan; Oliveira, Andre M
Well-differentiated liposarcoma (WDLS) is one of the most common malignant mesenchymal tumors and dedifferentiated liposarcoma (DDLS) is a malignant tumor consisting of both WDLS and a transformed nonlipogenic sarcomatous component. Cytogenetically, WDLS is characterized by the presence of ring or giant rod chromosomes containing several amplified genes, including MDM2, TSPAN31, CDK4, and others mainly derived from chromosome bands 12q13-15. However, the 12q13-15 amplicon is large and discontinuous. The focus of this study was to identify novel critical genes that are consistently amplified in primary (nonrecurrent) WDLS and with potential relevance for future targeted therapy. Using a high-resolution (5.0 kb) "single nucleotide polymorphism"/copy number variation microarray to screen the whole genome in a series of primary WDLS, two consistently amplified areas were found on chromosome 12: one region containing the MDM2 and CPM genes, and another region containing the FRS2 gene. Based on these findings, we further validated FRS2 amplification in both WDLS and DDLS. Fluorescence in situ hybridization confirmed FRS2 amplification in all WDLS and DDLS tested (n = 57). Real time PCR showed FRS2 mRNA transcriptional upregulation in WDLS (n = 19) and DDLS (n = 13) but not in lipoma (n = 5) and normal fat (n = 9). Immunoblotting revealed high expression levels of phospho-FRS2 at Y436 and slightly overexpression of total FRS2 protein in liposarcoma but not in normal fat or preadipocytes. Considering the critical role of FRS2 in mediating fibroblast growth factor receptor signaling, our findings indicate that FRS2 signaling should be further investigated as a potential therapeutic target for liposarcoma. Copyright © 2011 Wiley-Liss, Inc.
Schoemaker, N J; Lumeij, J T; Dorrestein, G M; Beynen, A C
The detection and correction of dietary errors plays an important role in avian medicine. Examples of diseases caused in part by a deficiency or abundance of a nutrient include hypovitaminosis A in birds of the parrot (Psittacidae) family, hypocalcemia in the African grey parrot, goitre in budgerigars, and iron storage diseases in the minah and toucan. Hypovitaminosis A can lead to metaplasia of mucous membranes, which in turn can lead to chronic rhinitis and respiratory fungal infections. Vitamin A deficiency is caused by feeding a seed based diet. Seed mixtures are often deficient in calcium, and nutritional secondary hyperparathyroidism can develop if an additional source of calcium, in the form of ground shells, is not provided. Tetanic symptoms as a result of hypocalcemia are only seen in the African grey parrot and the timneh parrot. Over supplementation of vitamin D gives rise to poisoning with polyuria and polydipsia as common initial symptoms. The exact cause of iron storage diseases in toucans and minahs is not known. A diet low in iron and vitamin C is advised as therapy. Goitre can develop in budgerigars as a result of iodine-deficient drinking water and provision of a seed mixture based on millet. An unbalanced or multideficient diet can give rise to reproductive disorders, abnormal feathers, or infections as a result of diminished resistance. It is usually not possible to relate the cause of these diseases in a simple way to the composition of the diet. Obesity, which occurs in the galah, Amazon parrot, and budgerigars, can lead to fatty liver and lipoma. A gradual reduction in weight, by means of calorie restriction, is recommended. Commercially available nutritionally balanced bird food is often effective.
Surd, Adrian; Mironescu, Aurel; Gocan, Horatiu
Supernumerary breast or polymastia is a well documented anomaly of the breast, and commonly presents along the embryonic milk line extending between the axilla and groin. However, cases of polymastia have been recorded in the face, vulva, and perineum. The clinical significance of these anomalies include their susceptibility to inflammatory and malignant changes, and their association with other congenital anomalies of the urinary and cardiovascular systems. In this article we report a case of fibroadenoma that developed in the supernumerary breast of the right axilla in a 17-year-old girl. It is uncommon to find such palpable masses in young patients. Clinical and sonographic examination of both breasts revealed no abnormalities and no lymph nodes were detected in the axillae or the neck. No associated urologic or cardiovascular abnormalities were found, and the histopathological examination of the excisional biopsy samples showed a well-defined, capsulated intracanalicular type of fibroadenoma similar to that of eutopic mammary tissue. In this report, we describe a rare case of fibroadenoma in an accessory breast in a young woman. There are a fewer than 40 reports in the world about this subject, of which differential diagnoses include: cancer in axillary supernumerary breast, hidradenitis, axillary lymphadenomegaly, lipomas, anexial cutaneous neoplasia, cysts, and phylloides tumor. The combination of clinical examination, ultrasound, and cytology leads to adequate treatment, especially surgical. The diagnosis could be confused because of findings from cytology. In this case, because of the clinical and sonographic findings and multiple differential diagnosis, only the histopathological study was used to confirm the diagnosis. Despite its high sensitivity, cytology has low specificity and could create false positive results. However, atypical lesions can be seen in fibroadenomas, especially in younger patients, pregnant patients, and in patients who use hormonal
O′Neill, Dan G.; Church, David B.; McGreevy, Paul D.; Thomson, Peter C.; Brodbelt, Dave C.
Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data has been proposed for reliable estimation of disorder prevalence in dogs. Electronic patient record (EPR) data were collected on 148,741 dogs attending 93 clinics across central and south-eastern England. Analysis in detail of a random sample of EPRs relating to 3,884 dogs from 89 clinics identified the most frequently recorded disorders as otitis externa (prevalence 10.2%, 95% CI: 9.1–11.3), periodontal disease (9.3%, 95% CI: 8.3–10.3) and anal sac impaction (7.1%, 95% CI: 6.1–8.1). Using syndromic classification, the most prevalent body location affected was the head-and-neck (32.8%, 95% CI: 30.7–34.9), the most prevalent organ system affected was the integument (36.3%, 95% CI: 33.9–38.6) and the most prevalent pathophysiologic process diagnosed was inflammation (32.1%, 95% CI: 29.8–34.3). Among the twenty most-frequently recorded disorders, purebred dogs had a significantly higher prevalence compared with crossbreds for three: otitis externa (P = 0.001), obesity (P = 0.006) and skin mass lesion (P = 0.033), and popular breeds differed significantly from each other in their prevalence for five: periodontal disease (P = 0.002), overgrown nails (P = 0.004), degenerative joint disease (P = 0.005), obesity (P = 0.001) and lipoma (P = 0.003). These results fill a crucial data gap in disorder prevalence information and assist with disorder prioritisation. The results suggest that, for maximal impact, breeding reforms should target commonly-diagnosed complex disorders that are amenable to genetic improvement and should place special focus on at-risk breeds. Future studies evaluating disorder severity and duration will augment the usefulness of the disorder prevalence
Hall, Michael J; Innocent, Julie; Rybak, Christina; Veloski, Colleen; Scott, Walter J; Wu, Hong; Ridge, John A; Hoffman, John P; Borghaei, Hossein; Turaka, Aruna; Daly, Mary B
Introduction Multiple endocrine neoplasia 1 (MEN1) is a cancer syndrome resulting from mutations of the MEN1 gene. The syndrome is characterized by neoplasia of the parathyroid and pituitary glands, and malignant tumors of the endocrine pancreas. Other manifestations include benign lipomas, angiofibromas, and carcinoid tumors commonly originating in the colon, thymus, and lung. This is the first report of MEN1 syndrome manifesting as bilateral granulosa cell ovarian tumors, and which is associated with a rare intronic mutation of the MEN1 gene. Case report A 41-year-old woman presented with abdominal pain, increasing abdominal girth, and dysmenorrhea. Ultrasound demonstrated enlarged ovaries and uterine fibroids. After an exploratory laparotomy, she subsequently underwent bilateral salpingo–oophorectomy with hysterectomy where the pathology revealed bilateral cystic granulosa cell tumors of the ovaries. Additional workup including computed tomography imaging discovered a thymic mass, which the pathology showed was malignant, along with a pancreatic mass suspicious for a neuroendocrine tumor. Hyperparathyroidism was also discovered and was found to be secondary to a parathyroid adenoma. Genetic testing revealed an exceedingly rare mutation in the MEN1 gene (c.654 + 1 G>A). Discussion Mutations of the menin gene leading to MEN1 syndrome are classically nonsense or missense mutations producing a dysfunctional protein product. Recently, researchers described a novel mutation of MEN1 (c.654 + 1 G>A) in a male proband meeting the criteria for clinical MEN1 syndrome. Functional analysis performed on the stable mutant protein showed selective disruption of the transforming growth factor beta signaling pathway, yet it maintained its wild-type ability to inhibit nuclear factor kappa B and to suppress JunD transcriptional activity. Conclusion To our knowledge, this is the first report of MEN1 syndrome associated with bilateral granulosa cell malignancy. We postulate that
"Atypical" Pleomorphic Lipomatous Tumor: A Clinicopathologic, Immunohistochemical and Molecular Study of 21 Cases, Emphasizing its Relationship to Atypical Spindle Cell Lipomatous Tumor and Suggesting a Morphologic Spectrum (Atypical Spindle Cell/Pleomorphic Lipomatous Tumor).
Creytens, David; Mentzel, Thomas; Ferdinande, Liesbeth; Lecoutere, Evelyne; van Gorp, Joost; Atanesyan, Lilit; de Groot, Karel; Savola, Suvi; Van Roy, Nadine; Van Dorpe, Jo; Flucke, Uta
The classification of the until recently poorly explored group of atypical adipocytic neoplasms with spindle cell features, for which recently the term atypical spindle cell lipomatous tumor (ASLT) has been proposed, remains challenging. Recent studies have proposed ASLT as a unique entity with (in at least a significant subset of cases) a specific genetic background, namely deletions/losses of 13q14, including RB1 and its flanking genes RCBTB2, DLEU1, and ITM2B. Similar genetic aberrations have been reported in pleomorphic liposarcomas (PLSs). This prompted us to investigate a series of 21 low-grade adipocytic neoplasms with a pleomorphic lipoma-like appearance, but with atypical morphologic features (including atypical spindle cells, pleomorphic [multinucleated] cells, pleomorphic lipoblasts and poor circumscription), for which we propose the term "atypical" pleomorphic lipomatous tumor (APLT). Five cases of PLS were also included in this study. We used multiplex ligation-dependent probe amplification to evaluate genetic changes of 13q14. In addition, array-based comparative genomic hybridization was performed on 4 APLTs and all PLSs. Multiplex ligation-dependent probe amplification showed consistent loss of RB1 and its flanking gene RCBTB2 in all cases of APLT. This genetic alteration was also present in all PLSs, suggesting genetic overlap, in addition to morphologic overlap, with APLTs. However, array-based comparative genomic hybridization demonstrated more complex genetic alterations with more losses and gains in PLSs compared with APLTs. APLTs arose in the subcutis (67%) more frequently than in the deep (subfascial) soft tissues (33%). With a median follow-up of 42 months, recurrences were documented in 2 of 12 APLTs for which a long follow-up was available. Herein, we also demonstrate that APLTs share obvious overlapping morphologic, immunohistochemical, genetic and clinical characteristics with the recently defined ASLT, suggesting that they are related
Agarwal, V; Sreedher, G; Weiss, K R; Hughes, M A
Painful vertebral body hemangiomas have been successfully treated with vertebroplasty and kyphoplasty. Sacral hemangiomas are uncommon and as such painful sacral hemangiomas are rare entities. We report what we believe is only the second successful treatment of a painful sacral hemangioma with CT-guided sacroplasty. A 56-year-old woman with a history of right-sided total hip arthroplasty and lipoma excision presented to her orthopedic surgeon with persistent right-sided low back pain which radiated into her buttock and right groin and hindered her ability to walk and perform her activities of daily living. MRIs of the thoracic spine, lumbar spine and pelvis showed numerous lesions with imaging characteristics consistent with multiple hemangiomas including a 2.2×2.1 cm lesion involving the right sacrum adjacent to the right S1 neural foramen. Conservative measures including rest, physical therapy, oral analgesics and right-sided sacroiliac joint steroid injection did not provide significant relief. Given her lack of improvement and the fact that her pain localized to the right sacrum, the patient underwent CT-guided sacroplasty for treatment of a painful right sacral hemangioma. Under CT fluoroscopic guidance, a 10 gauge introducer needle was advanced through the soft tissues of the back to the margin of the lesion. Biopsy was then performed and after appropriate preparation, cement was then introduced through the needle using a separate cement filler cannula. Appropriate filling of the right sacral hemangioma was visualized using intermittent CT fluoroscopy. After injection of approximately 2.5 cc of cement, it was felt that there was near complete filling of the right sacral hemangioma. With satisfactory achievement of cement filling, the procedure was terminated. Pathology from biopsy taken at the time of the procedure was consistent with hemangioma. Image-guided sacroplasty with well-defined endpoints is an effective, minimally invasive and safe procedure
Zalimas, Algirdas; Posiunas, Gintas; Strupas, Sigitas; Raugalas, Ramunas; Raistenskis, Juozas; Verkauskas, Gilvydas
PELVIS is an acronym defining the association of perineal hemangioma, malformations of external genitalia, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag. Eleven cases have been reported according to the Orphanet data. Acronyms of LUMBAR and SACRAL syndrome have been used and most probably represent a spectrum of the same entity. Very little is known about the success and timing of cloacal reconstruction after the treatment of hemangioma. We present a variant of PELVIS syndrome and discuss the possibilities and optimal timing of surgical reconstruction. Female infant was born with persistent cloaca and multiple hemangiomas of genitals, perineal area and left thigh. Colostomy was performed after birth. In order to treat hemangioma and to make the reconstruction of cloaca possible, corticosteroid treatment orally and multiple laser treatments were performed alternating Nd:YAG laser and pulsed dye laser therapy. Cystoscopy confirmed hemangiomatosis in the mucosa of the common channel, bladder neck and septate vagina. Oral propranolol treatment was started at the age of 18 months and continued for 1 year. It induced rapid improvement of hemangiomas. Two more pulsed dye laser treatments were performed to remove residuals of hemangiomas from the perineum and genital area. Posterior sagital reconstruction by separation of the rectum, mobilization of urogenital sinus and vaginal reconstruction was performed with no major bleeding at the age of 4 years. Postoperatively, after a period of progressive rectal dilatation colostomy was closed. Girl is now 6 years old, dry day and night without residual urine and normal upper tracts. Rectal calibration is normal, fecal continence is still to be evaluated but constipation is easily manageable. CT of the spine and the perineum showed sacral dysplasia and spina bifida with lumbo-sacral lipoma and tethering of terminal filum without neurological deterioration at the moment but requiring close
Agarwal, V.; Sreedher, G.; Weiss, K.R.; Hughes, M.A.
Summary Painful vertebral body hemangiomas have been successfully treated with vertebroplasty and kyphoplasty. Sacral hemangiomas are uncommon and as such painful sacral hemangiomas are rare entities. We report what we believe is only the second successful treatment of a painful sacral hemangioma with CT-guided sacroplasty. A 56-year-old woman with a history of right-sided total hip arthroplasty and lipoma excision presented to her orthopedic surgeon with persistent right-sided low back pain which radiated into her buttock and right groin and hindered her ability to walk and perform her activities of daily living. MRIs of the thoracic spine, lumbar spine and pelvis showed numerous lesions with imaging characteristics consistent with multiple hemangiomas including a 2.2×2.1 cm lesion involving the right sacrum adjacent to the right S1 neural foramen. Conservative measures including rest, physical therapy, oral analgesics and right-sided sacroiliac joint steroid injection did not provide significant relief. Given her lack of improvement and the fact that her pain localized to the right sacrum, the patient underwent CT-guided sacroplasty for treatment of a painful right sacral hemangioma. Under CT fluoroscopic guidance, a 10 gauge introducer needle was advanced through the soft tissues of the back to the margin of the lesion. Biopsy was then performed and after appropriate preparation, cement was then introduced through the needle using a separate cement filler cannula. Appropriate filling of the right sacral hemangioma was visualized using intermittent CT fluoroscopy. After injection of approximately 2.5 cc of cement, it was felt that there was near complete filling of the right sacral hemangioma. With satisfactory achievement of cement filling, the procedure was terminated. Pathology from biopsy taken at the time of the procedure was consistent with hemangioma. Image-guided sacroplasty with well-defined endpoints is an effective, minimally invasive and safe
Jiao, Chun-hua; Yang, Shu-ping; Li, Xue-liang; Ding, Jing; Xu, Ying-hong; Tao, Gui; Chen, Li; Zhang, Dao-quan; He, Xiang; Chen, Wang-kai; Shi, Rui-hua
To evaluate the efficacy and safety of submucosal tunneling endoscopic resection (STER) in the treatment of middle and lower esophagus submucosal tumors (SMT) originating from muscularis propria (MP) layer. A total number of 33 esophagus submucosal tumor (SMT) originating from MP layer underwent tumor resection by STER after endoscopic ultrasonography (EUS) and CT examination at Endoscopy Center, Department of Gastroenterology, First Affiliated Hospital, Nanjing Medical University from March 2012 to March 2013. There were 17 males and 16 females with an age range of (50 ± 10) years. Their lesion size, lesion origin, pathology, operative duration and complication rate were analyzed. Among them, the origins were of submucosal (n = 4, 12.1%), superficial muscularis propria layer (SMP) (n = 18, 54.6%), deep muscularis layer (DMP) (n = 10, 30.3%) and serosa (n = 1, 3.0%). There were single tumor (n = 30, 90.9%), double tumors (n = 2, 6.1%) and triple tumors (n = 1, 3.0%). Except for 1 case of non-resected hemangioma, 36 operative specimens were examined pathologically, including 30 leiomyomas tumors (83.3%), 5 stromal tumors (GIST) (13.9%) and 1 lipoma tumor (2.8%). Thirty-two lesions were successfully resected by STER with a complete resection rate of 97.0%. Average lesion size was (1.7 ± 1.0) cm and average operative duration (49 ± 26) min. A number of (7.8 ± 2.5) hemostatic clips were used to close the mucosal incision site. Subcutaneous emphysema occurred in 3 patients (9.1%) while puncture and pneumothorax developed in one case (3.0%). All of them recovered uneventfully through conservative treatments. As a new safe, efficacious and feasible treatment for middle and lower esophagus submucosal tumors, STER may completely resect SMT and provide accurate histopathological evaluations. And it is feasible to regain the mucosal integrity of GI tract and prevent the occurrences of leakage and secondary infections.
Spalding, DRC; Isla, AM; Thompson, JN; Williamson, RCN
INTRODUCTION For neoplasms that arise in the third and fourth parts of the duodenum (D3, D4), a duodenectomy that preserves the pancreas can provide adequate tumour clearance while avoiding the additional dissection and risk of the common alternative, pancreatoduodenectomy. PATIENTS AND METHODS Pancreas-sparing distal duodenectomy (PSDD) was performed in 14 patients with infrapapillary duodenal neoplasms between 1991–2002, and the clinical outcome is reviewed. The operation entails careful separation of the lower pancreatic head from D3, complete mobilisation of the ligament of Treitz and end-to-end duodenojejunal anastomosis 1–3 cm below the major duodenal papilla. RESULTS There were 9 men and 5 women of median age 56 years, who presented with iron-deficiency anaemia (n = 8), gastric outlet obstruction (n = 4), anaemia and gastric outlet obstruction (n = 1), epigastric pain or mass (1 each). There were 11 malignant neoplasms (adenocarcinoma 5, stromal tumour 4, recurrent seminoma 1, plasmacytoma 1), 2 benign neoplasms (villous adenoma, lipoma) and 1 patient with steroid-induced ulceration. In addition to D3 and D4, resection included the distal part of D2 in 5 patients, while 4 required concomitant partial colectomy. Median operation time was 240 min and median blood loss 1197 ml, being greater for malignant than benign lesions (1500 ml versus 700 ml). There was one death from gangrenous cholecystitis, one early re-operation for anastomotic bleeding and one late re-operation for delayed gastric emptying secondary to anastomotic stricture, but no pancreatic complications. At a median follow-up of 47 months, three patients had died of recurrent disease while the other 10 were alive and well with no upper gastrointestinal symptoms. CONCLUSIONS Provided there is a minimum 1-cm clearance at the papilla, PSDD is a useful alternative to formal pancreatoduodenectomy in patients with unusual neoplasms arising from the third and fourth parts of the duodenum. Although a
Krishna, Satheesh; Schieda, Nicola; Flood, Trevor A; Shanbhogue, Alampady Krishna; Ramanathan, Subramaniyan; Siegelman, Evan
This article presents methods to improve MR imaging approach of disorders of the renal sinus which are relatively uncommon and can be technically challenging. Multi-planar Single-shot T2-weighted (T2W) Fast Spin-Echo sequences are recommended to optimally assess anatomic relations of disease. Multi-planar 3D-T1W Gradient Recalled Echo imaging before and after Gadolinium administration depicts the presence and type of enhancement and relation to arterial, venous, and collecting system structures. To improve urographic phase MRI, concentrated Gadolinium in the collecting systems should be diluted. Diffusion-Weighted Imaging (DWI) should be performed before Gadolinium administration to minimize T2* effects. Renal sinus cysts are common but can occasionally be confused for dilated collecting system or calyceal diverticula, with the latter communicating with the collecting system and filling on urographic phase imaging. Vascular lesions (e.g., aneurysm, fistulas) may mimic cystic (or solid) lesions on non-enhanced MRI but can be suspected by noting similar signal intensity to the blood pool and diagnosis can be confirmed with MR angiogram/venogram. Multilocular cystic nephroma commonly extends to the renal sinus, however, to date are indistinguishable from cystic renal cell carcinoma (RCC). Solid hilar tumors are most commonly RCC and urothelial cell carcinoma (UCC). Hilar RCC are heterogeneous, hypervascular with epicenter in the renal cortex compared to UCC which are centered in the collecting system, homogeneously hypovascular, and show profound restricted diffusion. Diagnosis of renal sinus invasion in RCC is critically important as it is the most common imaging cause of pre-operative under-staging of disease. Fat is a normal component of the renal sinus; however, amount of sinus fat correlates with cardiovascular disease and is also seen in lipomatosis. Fat-containing hilar lesions include lipomas, angiomyolipomas, and less commonly other tumors which engulf sinus
Łasecki, Mateusz; Olchowy, Cyprian; Pawluś, Aleksander; Zaleska-Dorobisz, Urszula
Ulnar neuropathy is the second most common peripheral nerve neuropathy after median neuropathy, with an incidence of 25 cases per 100 000 men and 19 cases per 100 000 women each year. Skipping (snapping) elbow syndrome is an uncommon cause of pain in the posterior-medial elbow area, sometimes complicated by injury of the ulnar nerve. One of the reason is the dislocation of the abnormal insertion of the medial triceps head over the medial epicondyle during flexion and extension movements. Others are: lack of the Osboune fascia leading to ulnar nerve instability and focal soft tissue tumors (fibromas, lipomas, etc). Recurrent subluxation of the nerve at the elbow results in a tractional and frictional neuritis with classical symptoms of peripheral neuralgia. As far as we know snapping triceps syndrome had never been evaluated in sonoelastography. A 28yo semi-professional left handed tennis player was complaining about pain in posterior-medial elbow area. Initial US examination suggest golfers elbow syndrome which occurs quite commonly and has a prevalence of 0.3-0.6% in males and 0-3-1.1% in women and may be associated (approx. 50% of cases) with ulnar neuropathy. However subsequently made MRI revealed unusual distal triceps anatomy, moderate ulnar nerve swelling and lack of medial epicondylitis symptoms. Followed (second) US examination and sonoelastography have detected slipping of the both ulnar nerve and the additional band of the medial triceps head. Snapping elbow syndrome is a poorly known medical condition, sometimes misdiagnosed as the medial epicondylitis. It describes a broad range of pathologies and anatomical abnormalities. One of the most often reasons is the slipping of the ulnar nerve as the result of the Osborne fascia/anconeus epitrochlearis muscle absence. Simultaneously presence of two or more "snapping reasons" is rare but should be always taken under consideration. There are no sonoelastography studies describing golfers elbow syndrome
Sarıca, Özgür; Kahraman, A. Nedim; Öztürk, Enis; Teke, Memik
Objective The purpose of this study is to present mammography and ultrasound findings of male breast lesions and to investigate the ability of diagnostic modalities in estimating the evolution of gynecomastia. Materials and Methods Sixty-nine male patients who admitted to Taksim and Bakirkoy Education and Research Hospitals and underwent mammography (MG) and ultrasonography (US) imaging were retrospectively evaluated. Duration of symptoms and mammographic types of gynecomastia according to Appelbaum’s classifications were evaluated, besides the sonographic findings in mammographic types of gynecomastia. Results The distribution of 69 cases were as follows: gynecomastia 47 (68.11%), pseudogynecomastia 6 (8.69%) primary breast carcinoma 7 (10.14%), metastatic carcinoma 1 (1.4%), epidermal inclusion cyst 2 (2.8%), abscess 2 (2.8%), lipoma 2 (2.8%), pyogenic granuloma 1 (1.4%), and granulomatous lobular mastitis 1 (1.4%). Gynecomastia patients who had symptoms less than 1 year had nodular gynecomastia (34.6%) as opposed to dendritic gynecomastia (61.5%) (p<0.01) based on mammography results according to Appelbaum’s classifications. In patients having symptoms for 1 to 2 years, diffuse gynecomastia (70%) had a higher rate than the dendritic type (20%). Patients having the symptoms more than 2 years had diffuse gynecomastia (57.1%) while 42.9% had dendritic gynecomastia (p<0.001). With sonographic examination patients who had symptoms less than 1 year had higher rates of dendritic gynecomastia (92.3%) than noduler type (1.9 %). Patients having symptoms for 1 to 2 years had more dentritic gynecomastia (70%) than diffuse type (30%). Patients having symptoms more than 2 years had diffuse gynecomastia (57.1%) comparable to dendritic gynecomastia (42.9 %). Conclusion Diagnostic imaging modalities are efficient tools for estimation of gynecomastia evolution as well as the diagnosis of other male breast diseases. There seems to be an incongruity between duration of clinical
Sarıca, Özgür; Kahraman, A Nedim; Öztürk, Enis; Teke, Memik
The purpose of this study is to present mammography and ultrasound findings of male breast lesions and to investigate the ability of diagnostic modalities in estimating the evolution of gynecomastia. Sixty-nine male patients who admitted to Taksim and Bakirkoy Education and Research Hospitals and underwent mammography (MG) and ultrasonography (US) imaging were retrospectively evaluated. Duration of symptoms and mammographic types of gynecomastia according to Appelbaum's classifications were evaluated, besides the sonographic findings in mammographic types of gynecomastia. The distribution of 69 cases were as follows: gynecomastia 47 (68.11%), pseudogynecomastia 6 (8.69%) primary breast carcinoma 7 (10.14%), metastatic carcinoma 1 (1.4%), epidermal inclusion cyst 2 (2.8%), abscess 2 (2.8%), lipoma 2 (2.8%), pyogenic granuloma 1 (1.4%), and granulomatous lobular mastitis 1 (1.4%). Gynecomastia patients who had symptoms less than 1 year had nodular gynecomastia (34.6%) as opposed to dendritic gynecomastia (61.5%) (p<0.01) based on mammography results according to Appelbaum's classifications. In patients having symptoms for 1 to 2 years, diffuse gynecomastia (70%) had a higher rate than the dendritic type (20%). Patients having the symptoms more than 2 years had diffuse gynecomastia (57.1%) while 42.9% had dendritic gynecomastia (p<0.001). With sonographic examination patients who had symptoms less than 1 year had higher rates of dendritic gynecomastia (92.3%) than noduler type (1.9 %). Patients having symptoms for 1 to 2 years had more dentritic gynecomastia (70%) than diffuse type (30%). Patients having symptoms more than 2 years had diffuse gynecomastia (57.1%) comparable to dendritic gynecomastia (42.9 %). Diagnostic imaging modalities are efficient tools for estimation of gynecomastia evolution as well as the diagnosis of other male breast diseases. There seems to be an incongruity between duration of clinical complaints and diagnostic imaging classification of
Bisceglia, M; Spagnolo, D; Galliani, C; Fisher, C; Suster, S; Kazakov, D V; Cooper, K; Michal, M
In an eleven part series published in Pathologica, we have presented various tumoral, quasitumoral and pseudotumoral lesions of the superficial and somatic soft tissue (ST), which emerged as new entities or as variants of established entities during the last quarter of a century. Detailed clinicomorphological and differential diagnostic features of approximately sixty entities were chosen on the basis of their clinical significance and morphologic distinctiveness. The series included fibrous and myofibroblastic tumors (e.g. solitary fibrous tumor, high grade classic and pigmented dermatofibrosarcoma protuberans, inflammatory myofibroblastic tumor and myofibrosarcomas), fibromyxoid and fibrohistiocytic neoplasms (e.g., Evans' tumor, phosphaturic mesenchymal tumor, inflammatory myxohyaline tumor), special adipocytic/vascular/and smooth muscle lesions (e.g., chondroid lipoma, Dabska's tumor, ST hemangioblastoma, lipoleiomyosarcoma), epithelioid mesenchymal malignancies of diverse lineages (e.g., epithelioid liposarcoma, proximal-type epithelioid sarcoma, neuroendocrine extraskeletal chondromyxoid sarcoma), ST Ewing's tumor and peripheral nerve sheath tumors (perineuriomas and pigmented and rosetting tumors of the schwannoma/neurofibroma group), extranodal dendritic or histiocytic proliferative processes (follicular dendritic cell sarcoma, Rosai-Dorfman disease, Castleman's disease, and plexiform xanthomatous tumor), and tumors with myoepithelial differentiation. The section devoted to selected pseudotumoral entities considered representatives of the hamartoma group (neural fibrolipomatous hamartoma, ectopic hamartomatous thymoma, rudimentary meningocele), metabolic diseases (amyloid tumor, nephrogenic fibrosing dermopathy, tophaceous pseudogout, pseudoinfiltrative parathyromatosis), stromal tissue reactions to trauma (fibroosseous pseudotumors of digits) and infections (bacillary angiomatosis), and normal organs (glomus coccygeum). To conclude the descriptive phase
Mahendrasingam, Shanthini; Fettiplace, Robert; Alagramam, Kumar N.; Cross, Ellen
Mechanosensory transduction by vertebrate hair cells depends on a protein complex at the tips of shorter stereocilia associated with mechanoelectrical transduction channels activated by tip links in the hair bundle. In mammalian hair cells, this complex includes transmembrane channel-like protein subunit 1 (TMC1), lipoma HMGIC fusion partner-like 5 protein (LHFPL5) and protocadherin 15 (PCDH15), a lower-end component of the tip link. TMC1 interacts with LHFPL5 and PCDH15 but how the complex develops to maturity, and the relationships between these proteins, remains uncertain. Here we evaluate the spatiotemporal development of LHFPL5 distributions in mouse cochlear hair bundles by immunofluorescence and immunogold transmission electron microscopy, from postnatal day 0 (P0) through P21 in wild type and PCDH15-deficient mice. At P0, hair bundles contain many short microvilli-like processes which we term unranked stereocilia, and a subset of lengthening rows, adjacent to a kinocilium. LHFPL5 is distributed throughout the bundle, including on stereocilia tips and the kinocilium. At P3, 4-to-6 rows of ranked stereocilia are evident, total LHFPL5 expression peaks, and LHFPL5 is localised to ranked stereocilia tips of all rows and to lower shaft/ankle links. By P12, the bundle has a mature pattern with 3 ranked rows but virtually no unranked stereocilia or kinocilium; LHFPL5 expression has declined and become restricted to the tips of shorter stereocilia. Throughout development from P0, expression of LHFPL5 is greater overall on apical than basal bundles, but there is, on average, an equal amount of labelling per labelled tip. In P3 mice lacking PCDH15, LHFPL5 labelling is not at the tips but is primarily on unranked stereocilia and lower lateral links. These data show that LHFPL5 is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localisation suggests it interacts with link proteins other than PCDH15. PMID:29069081
O Neill, Dan G; Church, David B; McGreevy, Paul D; Thomson, Peter C; Brodbelt, Dave C
Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data has been proposed for reliable estimation of disorder prevalence in dogs. Electronic patient record (EPR) data were collected on 148,741 dogs attending 93 clinics across central and south-eastern England. Analysis in detail of a random sample of EPRs relating to 3,884 dogs from 89 clinics identified the most frequently recorded disorders as otitis externa (prevalence 10.2%, 95% CI: 9.1-11.3), periodontal disease (9.3%, 95% CI: 8.3-10.3) and anal sac impaction (7.1%, 95% CI: 6.1-8.1). Using syndromic classification, the most prevalent body location affected was the head-and-neck (32.8%, 95% CI: 30.7-34.9), the most prevalent organ system affected was the integument (36.3%, 95% CI: 33.9-38.6) and the most prevalent pathophysiologic process diagnosed was inflammation (32.1%, 95% CI: 29.8-34.3). Among the twenty most-frequently recorded disorders, purebred dogs had a significantly higher prevalence compared with crossbreds for three: otitis externa (P = 0.001), obesity (P = 0.006) and skin mass lesion (P = 0.033), and popular breeds differed significantly from each other in their prevalence for five: periodontal disease (P = 0.002), overgrown nails (P = 0.004), degenerative joint disease (P = 0.005), obesity (P = 0.001) and lipoma (P = 0.003). These results fill a crucial data gap in disorder prevalence information and assist with disorder prioritisation. The results suggest that, for maximal impact, breeding reforms should target commonly-diagnosed complex disorders that are amenable to genetic improvement and should place special focus on at-risk breeds. Future studies evaluating disorder severity and duration will augment the usefulness of the disorder prevalence information reported
Ott, S; Geiser, T
Approximately one out of 500 chest radiographs shows the incidental finding of a solitary pulmonary nodule and almost one half of these pulmonary lesions are caused by a tumor. Unfortunately, only 2% to 5% of all lung tumors are of benign origin, e. g. lipoma, fibroma, hamartoma, and chondroma, and the majority are malignant neoplasms, most commonly primary lung cancer followed by metastases of extrapulmonary primary carcinomas. Thus, a careful diagnostic work up of solitary pulmonary nodules, including histological diagnosis, is mandatory for an adequate management and treatment of patients with pulmonary lesions. Despite all recent improvements of treatment modalities, lung cancer continues to be a major cause of morbidity and mortality among malignant diseases worldwide. The prognosis of affected patients is still very poor and a 5-years survival rate of only 14% makes lung cancer the number one cause of death due to cancer in Switzerland. Active and passive tobacco smoking are by far the best known risk factor for the development of lung cancer, but there are severe other probably less known factors that may increase the individual risk for malignant neoplasms of the lung. These risk factors include e. g. exposure to natural ionic radiation, consisting of terrestrial radiation and indoor radiation caused by radon gas, exposure to respirable dust and Diesel engine emissions, asbestos, and polycyclic aromatic hydrocarbons. In the majority of cases, the latency between exposure and development of cancer is years to decades and the person concerned was occupationally exposed. Therefore, a detailed evaluation of a patient's medical and occupational history is needed. Due to its poor prognosis, prevention and early diagnosis of lung cancer is crucial to improve our patients' outcome. Good knowledge of epidemiology and aetiology of pulmonary tumors is the key to preventive measures and identification of individuals at increased risk for lung cancer. An overview will
Pavone, P; Laghi, A; Panebianco, V; Catalano, C; Giura, R; Passariello, R
We analyze the peculiar technical features of virtual endoscopy obtained with volume rendering. Our preliminary experience is based on virtual endoscopy images from volumetric data acquired with spiral CT (Siemens, Somatom Plus 4) using acquisition protocols standardized for different anatomic areas. Images are reformatted at the CT console, to obtain 1 mm thick contiguous slices, and transferred in DICOM format to an O2 workstation (Silicon Graphics, Mountain View CA, USA) with processor speed of 180 Mhz, 256 Mbyte RAM memory and 4.1 Gbyte hard disk. The software is Vitrea 1.0 (Vital Images, Fairfield, Iowa), running on a Unix platform. Image output is obtained through the Ethernet network to a Macintosh computer and a thermic printer (Kodak 8600 XLS). Diagnostic quality images were obtained in all the cases. Fly-through in the airways allowed correct evaluation of the main bronchi and of the origin of segmentary bronchi. In the vascular district, both carotid strictures and abdominal aortic aneurysms were depicted, with the same accuracy as with conventional reconstruction techniques. In the colon studies, polypoid lesions were correctly depicted in all the cases, with good correlation with endoscopic and double-contrast barium enema findings. In a case of lipoma of the ascending colon, virtual endoscopy allowed to study the colon both cranially and caudally to the lesion. The simultaneous evaluation of axial CT images permitted to characterize the lesion correctly on the basis of its density values. The peculiar feature of volume rendering is the use of the whole information inside the imaging volume to reconstruct three-dimensional images; no threshold values are used and no data are lost as opposite to conventional image reconstruction techniques. The different anatomic structures are visualized modifying the reciprocal opacities, showing the structures of no interest as translucent. The modulation of different opacities is obtained modifying the shape of the
Jeon, Ji Young; Lee, Min Hee; Lee, Sang Hoon; Shin, Myung Jin
Objective: To evaluate the usefulness of adding diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) mapping to conventional 3.0-T MRI to differentiate between benign and malignant superficial soft-tissue masses (SSTMs). Methods: The institutional review board approved this study and informed consent was waived. The authors retrospectively analyzed conventional MR images including diffusion-weighted images (b-values: 0, 400, 800 s mm−2) in 60 histologically proven SSTMs (35 benign and 25 malignant) excluding lipomas. Two radiologists independently evaluated the conventional MRI alone and again with the additional DWI for the evaluation of malignant masses. The mean ADC values measured within an entire mass and the contrast-enhancing solid portion were used for quantitative analysis. Diagnostic performances were compared using receiver-operating characteristic analysis. Results: For an inexperienced reader, using only conventional MRI, the sensitivity, specificity and accuracy were 84%, 80% and 81.6%, respectively. When combining conventional MRI and DWI, the sensitivity, specificity and accuracy were 96%, 85.7% and 90%, respectively. Additional DWI influenced the improvement of the rate of correct diagnosis by 8.3% (5/60). For an experienced reader, additional DWI revealed the same accuracy of 86.7% without added value on the correct diagnosis. The group mean ADCs of malignant SSTMs were significantly lower than that of benign SSTMs (p < 0.001). The best diagnostic performance with respect to differentiation of SSTMs could be obtained when conventional MRI was assessed in combination with DWI. Conclusion: Adding qualitative and quantitative DWI to conventional MRI can improve the diagnostic performance for the differentiation between benign and malignant SSTMs. Advances in knowledge: Because the imaging characteristics of many malignant superficial soft-tissue lesions overlap with those of benign ones, inadequate surgical resection
Mizuno, Ju; In-nami, Hiroshi; Saegusa, Hiroaki; Kibayashi, Junichiro; Jimbo, Masanori; Kida, Kotaro; Ichiishi, Noriko
A 42-year-old woman with hysteromyoma underwent total abdominal hysterectomy under general and epidural anesthesia. Three years before, she had undergone resection of lipoma on her left shoulder under local anesthesia uneventfully. She had no previous history of hypersensitivity. General anesthesia was induced by intravenous injection of fentanyl, propofol, and vecuronium followed by inhalation of nitrous oxide, oxygen, and sevoflurane. Lidocaine and fentanyl were injected through a lumbar epidural catheter. After the start of open laparotomy, there was a sudden onset of hypotension. Administrations of ephedrine and phenylephrine, and volume loading were ineffective. Moreover, she showed profound hypotension, tachycardia, oxygen desaturation, decreased endtidal carbon dioxide and increased airway pressure. She broke out in a sweat with flushing on her chest and upper extremities. Therefore, we interrupted the surgery, checked her arterial blood gas analysis, performed echocardiography, and inserted a pulmonary artery catheter. We made a diagnosis of anaphylactic shock and administered methylprednisolone, albumin, epinephrine, norepinephrine, and dopamine to treat the circulatory collapse. The gynecologists changed their surgical gloves from a powdered-latex type to a powder-free latex type, and the surgery was resumed. She responded well to appropriate emergent therapy and all vasopressor drugs were gradually decreased and eventually stopped. After the end of the surgery, she recovered completely from the signs and symptoms of shock. Later, we found a high level of plasma latex protein-specific IgE antibody and confirmed the events as anaphylactic shock due to latex. We assumed that the anaphylactic shock was powder-induced latex allergy following use of powdered latex gloves in this case. Latex allergy should be suspected if an anaphylactic reaction or shock accompanied by circulatory collapse, respiratory failure, and skin symptoms of unknown origin occurs during
Garvey, J F W
The value of computed tomography (CT) for the diagnosis of clinically occult (hidden) groin hernia was assessed in a series of patients presenting with undiagnosed groin pain. A total of 158 consecutive patients presenting over a period of 5 years with undiagnosed groin pain or lower abdominal pain and negative or equivocal clinical findings were radiologically assessed with non-contrast CT. The decision to manage operatively or conservatively was then based on a combination of the clinical and CT findings. Outcomes were assessed at 10 years follow-up. The study cohort comprised 158 patients presenting with groin or lower abdominal pain and/or swelling, and was studied prospectively. Seven of these patients were re-investigated at a later date after developing new pain on either the ipsilateral or contralateral side, giving a total of 165 CT examinations. One-third of cases (54) had clinically occult groin hernias and most of the remaining cases had diagnoses that could be managed non-operatively. Of those who came to surgery, the pre-operative CT diagnosis of hernia had a positive predictive value (PPV) of 92% and a negative predictive value (NPV) of 96% (overall accuracy 94%). Lipoma of the spermatic cord was responsible for three of five false-positive CT results. The concept of sports hernia/groin disruption injury (GDI) was encountered, and this entity is discussed in this paper. In the group of patients without hernia findings on CT, the most common diagnoses were rectus abdominis and/or pyramidalis muscle injury which could be treated by physiotherapy (22%), GDI (16%), post-surgical problems (14%), miscellaneous (20%) and 'no abnormality' was identified in 15%. Overall, there were 111 patients with a 'non-hernia' CT diagnosis, of which urological, gynaecological, gastrointestinal and neuralgia contributed to the non-musculoskeletal diagnosis. This prospective non-contrast CT study of patients with undiagnosed chronic groin pain detected the majority of
Sheikh, Salwa S; Amr, Samir S
Mycotic cysts are subcutaneous cystic granulomas caused by either dematiaceous (pigmented) fungi (pheomycotic cysts) or eumycotic (nonpigmented fungi) present in soil, wood, and decaying plant material. These fungi gain access to the tissues via a wooden splinter or thorn. No deep tissue involvement or extension to bone is known to occur. We reviewed our surgical pathology files for the last 32 years. All cases with the diagnosis of cysts with fungi, thorns, or splinters and associated granulomatous and acute inflammation were reviewed. Gomori's silver and periodic acid-Schiff stains were performed in all cases. Twenty-one cases of mycotic cyst were found, including eight pheomycotic cysts (one with a recurrent lesion seen 11 months after the initial excision of the cyst). Thirteen cysts had nonpigmented fungal hyphae. There were 14 males and seven females, with an age range of 5-76 years. The dorsum of the foot was the most frequently affected site (12 cases). Four cases involved the fingers, two involved the knee area, two involved the big toe, and one each involved the leg, ankle, and forearm. The cysts measured 0.6-4.5 cm in diameter. Histologically, there was granulomatous inflammation with a variable degree of neutrophilic infiltrate giving central abscess formation. Twelve cases showed a wooden splinter. All cases were positive for fungal organisms, mostly septate hyphae and spores that were highlighted by special stains. Fungal pigment, ranging from yellow-brown to light brown to black, was observed in eight cases. No extension to deep tissues was noted. The clinical impression varied widely including ganglion, sebaceous cyst, giant cell tumor of the tendon sheath, and lipoma. One patient was immunosuppressed following renal transplantation. All patients were treated by simple excision. No antifungal chemotherapy was needed or administered in any of the patients. One patient had a recurrence of his lesion within 1 year as a result of inadequate initial
Chen, Eleanor; Fletcher, Christopher D M
Cellular angiofibroma is a mesenchymal neoplasm that is characterized by a bland spindle cell component, morphologically reminiscent of spindle cell lipoma, and thick-walled vessels. The tumor occurs equally in men and women and usually arises in the inguino-scrotal or vulvovaginal regions. An earlier study of 51 cases from our group showed that the tumor follows a benign course without any tendency for recurrence. In 1 case, an intralesional microscopic nodule of pleomorphic liposarcoma was observed. The biologic significance of atypia or sarcomatous transformation in cellular angiofibroma remains uncertain. In this study, we characterized clinicopathologic features in 13 cases of cellular angiofibroma with morphologic atypia or sarcomatous transformation. Thirteen cases with atypia or sarcomatous transformation among 154 usual cellular angiofibromas identified between 1993 and 2009 were retrieved from consultation files. There were 12 females and 1 male ranging in age from 39 to 71 years (median age, 46 y). Tumor size ranged from 1.2 to 7.5 cm. In 11 cases, the tumors occurred in the vulva. One case each occurred in the paratesticular and hip regions. Most tumors were located in subcutaneous tissue. There were 4 cases of cellular angiofibroma with atypia. Three showed severely atypical cells as scattered foci within the cellular angiofibroma. One case showed a discrete nodule of atypical cells. There were 9 cases of cellular angiofibroma with morphologic features of sarcomatous transformation. In each case, abrupt transition to a discrete sarcomatous component was seen. Of these 9 cases, the sarcomatous component in 2 cases showed features of pleomorphic liposarcoma with multivacuolated lipoblasts readily identified. Three of these 9 cases showed discrete nodule(s) closely resembling atypical lipomatous tumor within usual cellular angiofibroma. In the remaining 4 cases, the sarcomatous component was composed of pleomorphic spindle cells arranged in various
Liu, Ying; Helms, Cynthia; Liao, Wilson; Zaba, Lisa C.; Duan, Shenghui; Gardner, Jennifer; Wise, Carol; Miner, Andrew; Malloy, M. J.; Pullinger, Clive R.; Kane, John P.; Saccone, Scott; Worthington, Jane; Bruce, Ian; Kwok, Pui–Yan; Menter, Alan; Krueger, James; Barton, Anne; Saccone, Nancy L.; Bowcock, Anne M.
A genome-wide association study was performed to identify genetic factors involved in susceptibility to psoriasis (PS) and psoriatic arthritis (PSA), inflammatory diseases of the skin and joints in humans. 223 PS cases (including 91 with PSA) were genotyped with 311,398 single nucleotide polymorphisms (SNPs), and results were compared with those from 519 Northern European controls. Replications were performed with an independent cohort of 577 PS cases and 737 controls from the U.S., and 576 PSA patients and 480 controls from the U.K.. Strongest associations were with the class I region of the major histocompatibility complex (MHC). The most highly associated SNP was rs10484554, which lies 34.7 kb upstream from HLA-C (P = 7.8×10−11, GWA scan; P = 1.8×10−30, replication; P = 1.8×10−39, combined; U.K. PSA: P = 6.9×10−11). However, rs2395029 encoding the G2V polymorphism within the class I gene HCP5 (combined P = 2.13×10−26 in U.S. cases) yielded the highest ORs with both PS and PSA (4.1 and 3.2 respectively). This variant is associated with low viral set point following HIV infection and its effect is independent of rs10484554. We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (IL12B) polymorphisms in PS and PSA cohorts (IL23R: rs11209026, U.S. PS, P = 1.4×10−4; U.K. PSA: P = 8.0×10−4; IL12B:rs6887695, U.S. PS, P = 5×10−5 and U.K. PSA, P = 1.3×10−3) and detected an independent association in the IL23R region with a SNP 4 kb upstream from IL12RB2 (P = 0.001). Novel associations replicated in the U.S. PS cohort included the region harboring lipoma HMGIC fusion partner (LHFP) and conserved oligomeric golgi complex component 6 (COG6) genes on chromosome 13q13 (combined P = 2×10−6 for rs7993214; OR = 0.71), the late cornified envelope gene cluster (LCE) from the Epidermal Differentiation Complex (PSORS4) (combined P = 6.2×10−5 for rs6701216
Liu, Ying; Helms, Cynthia; Liao, Wilson; Zaba, Lisa C; Duan, Shenghui; Gardner, Jennifer; Wise, Carol; Miner, Andrew; Malloy, M J; Pullinger, Clive R; Kane, John P; Saccone, Scott; Worthington, Jane; Bruce, Ian; Kwok, Pui-Yan; Menter, Alan; Krueger, James; Barton, Anne; Saccone, Nancy L; Bowcock, Anne M
A genome-wide association study was performed to identify genetic factors involved in susceptibility to psoriasis (PS) and psoriatic arthritis (PSA), inflammatory diseases of the skin and joints in humans. 223 PS cases (including 91 with PSA) were genotyped with 311,398 single nucleotide polymorphisms (SNPs), and results were compared with those from 519 Northern European controls. Replications were performed with an independent cohort of 577 PS cases and 737 controls from the U.S., and 576 PSA patients and 480 controls from the U.K.. Strongest associations were with the class I region of the major histocompatibility complex (MHC). The most highly associated SNP was rs10484554, which lies 34.7 kb upstream from HLA-C (P = 7.8x10(-11), GWA scan; P = 1.8x10(-30), replication; P = 1.8x10(-39), combined; U.K. PSA: P = 6.9x10(-11)). However, rs2395029 encoding the G2V polymorphism within the class I gene HCP5 (combined P = 2.13x10(-26) in U.S. cases) yielded the highest ORs with both PS and PSA (4.1 and 3.2 respectively). This variant is associated with low viral set point following HIV infection and its effect is independent of rs10484554. We replicated the previously reported association with interleukin 23 receptor and interleukin 12B (IL12B) polymorphisms in PS and PSA cohorts (IL23R: rs11209026, U.S. PS, P = 1.4x10(-4); U.K. PSA: P = 8.0x10(-4); IL12B:rs6887695, U.S. PS, P = 5x10(-5) and U.K. PSA, P = 1.3x10(-3)) and detected an independent association in the IL23R region with a SNP 4 kb upstream from IL12RB2 (P = 0.001). Novel associations replicated in the U.S. PS cohort included the region harboring lipoma HMGIC fusion partner (LHFP) and conserved oligomeric golgi complex component 6 (COG6) genes on chromosome 13q13 (combined P = 2x10(-6) for rs7993214; OR = 0.71), the late cornified envelope gene cluster (LCE) from the Epidermal Differentiation Complex (PSORS4) (combined P = 6.2x10(-5) for rs6701216; OR 1.45) and a region of LD at 15q21 (combined P = 2.9x10