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C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
March 16, 2018: Neurogenetics
Philipp Al Ghazal, Lisa-Lena Grönemeyer, Michael P Schön
Als Lipomatosen bezeichnet man gutartige, meist ohne eindeutige Auslöser auftretende Vermehrungen des Fettgewebes, oft mit typischem Verteilungsmuster. Im Gegensatz zu umschriebenen Lipomen entwickeln sie sich meist diffus-symmetrisch und sind nicht von einer fibrösen Pseudokapsel umgeben. Am häufigsten ist die benigne symmetrische Lipomatose (BSL; Launois-Bensaude-Syndrom), von der aufgrund des Verteilungsmusters des hyperplastischen Fettgewebes vier Typen unterschieden werden. Ätiologie und Pathogenese der Erkrankung sind noch weitgehend unbekannt, wobei manche Formen eine hereditäre Basis zu haben oder mit vermehrtem Alkoholkonsum assoziiert zu sein scheinen...
March 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Masashi Yokose, Hirotaka Sato, Hirohiko Akutsu, Yoshio Misawa
No abstract text is available yet for this article.
March 11, 2018: Journal of Cardiac Surgery
Wesley Baas, Blake O'Connor, Ahmed El-Zawahry
A 57-year-old African American male presented with vague abdominal pain and bilateral flank pain. The patient was found to have bilateral hydronephrosis and significant renal function impairment secondary to pelvic lipomatosis. Pelvic lipomatosis represents a clinically-diagnosed unique cause of ureteral obstruction and subsequent renal impairment. We present a case report of newly diagnosed pelvic lipomatosis, the clinical and imaging characteristics for diagnosis, and its conservative management with serial ureteral stent exchanges...
February 2018: Canadian Journal of Urology
Sabrina de Mello Ando, Raquel Andrade Moreno, Públio Cesar Cavalcante Viana, Fernando Ide Yamauchi
Renal replacement lipomatosis is a condition characterized by varying degrees of renal parenchymal atrophy and perirenal fibrofatty proliferation secondary to chronic inflammation such as xanthogranulomatous pyelonephritis. In severe cases, imaging findings can be misdiagnosed as retroperitoneal liposarcoma.
March 9, 2018: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Taketoshi Yasuda, Kayo Suzuki, Yoshiharu Kawaguchi, Shoji Seki, Hiroto Makino, Kenta Watanabe, Takeshi Hori, Tohru Yamagami, Masahiko Kanamori, Tomoatsu Kimura
BACKGROUND: Lumbar epidural lipomatosis (LEL) is characterized by abnormal accumulation of unencapsulated adipose tissue in the spinal epidural space. Such accumulation compresses the dural sac and nerve roots, and results in various neurological findings. However, the pathophysiology of LEL remains unclear. This study examined the associations between imaging and clinical findings in detail, and investigated the mechanisms underlying symptom onset by measuring intraoperative epidural pressures in LEL...
March 1, 2018: BMC Musculoskeletal Disorders
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling. On evaluation, he was found to have tuberous sclerosis complex with diffuse lipomatosis of the right leg. To the best of the authors' literature search, only two previous reports of association of tuberous sclerosis complex with diffuse lipomatosis were found. The molecular mechanisms behind the co-occurrence of these two entities have not been studied in detail...
January 2018: Indian Dermatology Online Journal
Philipp Al Ghazal, Lisa-Lena Grönemeyer, Michael P Schön
Lipomatoses are benign proliferations of adipose tissue, often with typical distribution patterns, which usually occur without clear causes. In contrast to circumscribed lipomas, they develop diffusely and symmetrically and are not surrounded by a fibrous pseudocapsule. The most common form is benign symmetric lipomatosis (BSL; Launois-Bensaude syndrome), of which four types are distinguished based on the distribution pattern of hyperplastic adipose tissue. The etiology and pathogenesis of the disease are still largely unknown, although some forms appear to have a hereditary basis or to be associated with increased alcohol consumption...
February 12, 2018: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Manoj Phalak, Sukanta Das, Manmohan Singh, Bhawani Shanker Sharma
Spinal Epidural lipomatosis (SEL) is an uncommon condition, usually presents in young and middle aged patients, with male preponderance. Idiopathic SEL is rare, particularly in 8th decade of life. SEL should also be considered as a differential diagnosis in approach of elderly patient presenting with lumbar canal stenosis. Such a case of 77 year old man is presented here.
October 2017: Journal of Craniovertebral Junction and Spine
Mariana Medell-Gago, Tamara Guerra-Guerra, Orlando González-Pérez, Leonardo Concepción-Quiñones
Nevus lipomatosus cutaneus superficialis is a rare, hamartomatous disorder, characterized by the presence of ectopic mature adipose tissue within the superficial dermis. Lesions occur within the first three decades of life. We report four new cases, including a patient with the most extensive affectation reported to date, which was associated with massive lipomas in the subcutaneous cell tissue and diffuse lipomatosis. To our knowledge, it is the first report of this disorder in Cuba.
January 2018: Revista Española de Patología
Ekim Gumeler, Mehmet Ruhi Onur, Ali Devrim Karaosmanoglu, Mustafa Ozmen, Deniz Akata, Musturay Karcaaltincaba
Peripelvic and periureteric areas are frequently overlooked in the imaging evaluations of the urinary system on computed tomography and magnetic resonance imaging. Several neoplastic and non-neoplastic disorders and diseases including lipomatosis, angiomyolipoma and angiolipomatous proliferation, vascular lesions, lymphangiomatosis, Rosai-Dorfman disease, Erdheim-Chester disease, extramedullary hematopoiesis, IgG4-related disease, lymphoma, mesenchymal tumors, trauma, and Antopol-Goldman lesion may involve these areas...
December 28, 2017: Abdominal Radiology
Steven T Papastefan, Abhiraj D Bhimani, Steven Denyer, Sajeel R Khan, Darian R Esfahani, Demetrios C Nikas, Ankit I Mehta
BACKGROUND: Spinal epidural lipomatosis (SEL) is a rare pathologic growth of histologically normal unencapsulated adipose tissue in the epidural space. Although rare, SEL can compress the spinal cord or nerve roots causing myelopathy or radiculopathy. While SEL has been associated with long-term exposure to endogenous or exogenous steroids and obesity, idiopathic forms of SEL are much rarer. CASE REPORT: In this report, we present the first case of SEL isolated to the cervical region compressing the spinal cord in a healthy, non-obese, preadolescent patient...
April 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Shota Aoyama, Katsunori Ami, Akira Fukuda, Kenichiro Imai, Ja-Mun Chong, Masayuki Ando
BACKGROUND: Gastric lipomatosis is characterized by multiple gastric lipomas or a diffuse gastric infiltration of the submucosal or subserosal layer by the adipose tissue; diffuse-type gastric lipomatosis is an extremely rare condition. Here, we present the case of a patient with gastric lipomatosis treated by total gastrectomy. CASE PRESENTATION: A 54-year-old man diagnosed with gastric submucosal tumor in 2008 was referred to our hospital for further examination and treatment in September 2016...
December 16, 2017: Surgical Case Reports
Himanshu Gurunath Kulkarni, Gurunath S Kulkarni, Prakash G Kulkarni
Introduction: Lipoma arborescens is a rare lesion, benign in nature and was first described in detail in 1957. <200 cases have been reported in the literature by now. It consists of subsynovial villous proliferation of mature fat cells. Since the incidence of the condition is very rare, definite etiology has not established. Arthroscopic or open synovectomy has been the treatment of choice of the lesion. Case Report: We present you a case of lipomatosis arborescens of the right knee in a 28-year-old male...
September 2017: Journal of Orthopaedic Case Reports
Ketan Sakharam Kulkarni, Priyanka Pradeep Karnik, Nandini M Dave, Barkha Agrawal
No abstract text is available yet for this article.
October 2017: Indian Journal of Anaesthesia
Harold Tabori, Anke Jaudszus, Christin Arnold, Hans-Joachim Mentzel, Michael Lorenz, Ruth K Michl, Thomas Lehmann, Diane M Renz, Jochen G Mainz
Abdominal symptoms are a hallmark of Cystic fibrosis (CF). Yet, their association with morphological abnormalities of different abdominal organs is still poorly understood. Aim was therefore to relate these symptoms, assessed with a questionnaire, to findings in abdominal ultrasound (US). In 114 CF patients of all ages, findings in US considering seventeen specific parameters were related to abdominal symptoms compiled with our novel CF-specific 26-modal symptom score (CFAbd-Score). US abnormalities were detected in 95% of the patients...
December 12, 2017: Scientific Reports
Bente B Johansson, Karianne Fjeld, Khadija El Jellas, Anny Gravdal, Monica Dalva, Erling Tjora, Helge Ræder, Rohit N Kulkarni, Stefan Johansson, Pål R Njølstad, Anders Molven
The enzyme carboxyl ester lipase (CEL), also known as bile salt-dependent or -stimulated lipase (BSDL, BSSL), hydrolyzes dietary fat, cholesteryl esters and fat-soluble vitamins in the duodenum. CEL is mainly expressed in pancreatic acinar cells and lactating mammary glands. The human CEL gene resides on chromosome 9q34.3 and contains a variable number of tandem repeats (VNTR) region that encodes a mucin-like protein tail. Although the number of normal repeats does not appear to significantly influence the risk for pancreatic disease, single-base pair deletions in the first VNTR repeat cause a syndrome of endocrine and exocrine dysfunction denoted MODY8...
January 2018: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
Jason Bradley Malone, Patrick Jon Bevan, Todd Jay Lewis, Andrew David Nelson, Doug Edward Blaty, Michael Eastland Kahan
Inroduction: Spinal Epidural Lipomatosis (SEL) is believed to be a rare disorder. The incidence and prevalence of clinically symptomatic SEL in patients with spinal stenosis has never been reported in the literature. Our study aims to determine the prevalence, incidence, and associated risk factors of SEL in patients with the diagnosis of spinal stenosis. Methods: This is a retrospective study. We reviewed the charts of 831 patients with the diagnosis of spinal stenosis over a 30 month period...
March 2018: Journal of Orthopaedics
Selçuk Özdoğan, Ceyhun Saymaz, Cumhur Kaan Yaltırık, Hanife Gülden Düzkalır, Mustafa Kaya, Nail Demirel, Ali Haluk Düzkalır, Başar Sarıkaya, Berrin Aktekin
BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs...
December 1, 2017: American Journal of Case Reports
Hayriye Hızarcıoğlu-Gülşen, Esra Kılıç, Elena Dominguez-Garrido, Yusuf Aydemir, Gülen Eda Utine, İnci Nur Saltık-Temizel
Hızarcıoğlu-Gülşen H, Kılıç E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltık-Temizel İN. Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Turk J Pediatr 2017; 59: 80-83. Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant inherited polyposis syndrome characterized by macrocephaly, lipomatosis, hemangiomatosis, intestinal polyposis and pigmented macules on penis. The mutation of the PTEN gene that is responsible for controlling cellular proliferation, migration and apoptosis clarifies the reason of tissue overgrowth in BRRS...
2017: Turkish Journal of Pediatrics
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