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https://www.readbyqxmd.com/read/29290322/-nevus-lipomatosus-cutaneous-superficialis-report-of-four-cases-including-an-unusual-presentation-associated-with-massive-lipomas-and-diffuse-lipomatosis
#1
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
https://www.readbyqxmd.com/read/29285599/computed-tomography-and-magnetic-resonance-imaging-of-peripelvic-and-periureteric-pathologies
#2
REVIEW
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
https://www.readbyqxmd.com/read/29273822/management-of-idiopathic-spinal-epidural-lipomatosis-a-case-report-and-review-of-the-literature
#3
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...
December 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29247384/gastric-lipomatosis-treated-by-total-gastrectomy-a-case-report
#4
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
https://www.readbyqxmd.com/read/29242797/lipoma-arborescens-eyes-see-what-mind-knows
#5
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
https://www.readbyqxmd.com/read/29242660/radiological-images-through-an-anaesthesiologists-looking-glass-airway-management-in-cervical-lipomatosis-in-an-infant
#6
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
https://www.readbyqxmd.com/read/29234058/relation-of-ultrasound-findings-and-abdominal-symptoms-obtained-with-the-cfabd-score-in-cystic-fibrosis-patients
#7
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
https://www.readbyqxmd.com/read/29233499/the-role-of-the-carboxyl-ester-lipase-cel-gene-in-pancreatic-disease
#8
REVIEW
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...
December 5, 2017: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/29203971/incidence-of-spinal-epidural-lipomatosis-in-patients-with-spinal-stenosis
#9
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
https://www.readbyqxmd.com/read/29192135/encephalocraniocutaneous-lipomatosis-haberland-syndrome
#10
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
https://www.readbyqxmd.com/read/29168369/polyposis-deserves-a-perfect-physical-examination-for-final-diagnosis-bannayan-riley-ruvalcaba-syndrome
#11
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
https://www.readbyqxmd.com/read/29154378/idiopathic-renal-replacement-lipomatosis
#12
A Bansal, M Kaur, V Dalal
Renal replacement lipomatosis (RRL) is a rare disorder which exhibits extensive proliferation of fatty tissue within the renal sinus, hilum, and perirenal region. The pathogenesis of this entity is unknown, though association with aging, renal atrophy, longstanding chronic urinary infections has been noted. Although imaging modalities may suggest the diagnosis of this entity, it is histopathology that clinches the diagnosis most accurately. We report a case of a 52 year old male who presented with nonfunctioning kidney and was histopathologically confirmed to be a case of renal replacement lipomatosis...
September 2017: Pathologica
https://www.readbyqxmd.com/read/29129710/benign-symmetric-lipomatosis-with-lingual-involvement-case-report-and-literature-review
#13
M Mayo Yáñez, N González Poggioli, M Álvarez-Buylla Blanco, J Herranz González-Botas
Benign symmetrical lipomatosis (BSL) is a rare disorder characterized by diffuse, multiple, symmetric and non-encapsulated fat masses generally localized in the face, neck and upper trunk. An uncommon case of lingual affliction in BSL, presented with macroglossia, sleep apnea, dysphagia and dysartria is described. Bilateral partial glossectomy was performed, with an improvement in initial symptoms one year after surgery. Only seven other BSL cases with lingual involvement have been reported in the literature...
November 10, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29128477/congenital-infiltrating-lipomatosis-of-the-face-case-report-with-presentation-of-a-new-multistep-surgical-approach
#14
Sofia Kalantary, Elke Van de Casteele, Nasser Nadjmi
PURPOSE: This report describes the first case of congenital infiltrating lipomatosis of the face (CIL-F) that was successfully managed with 2-jaw orthognathic surgery. MATERIALS AND METHODS: The patient was followed from 4 to 18 years of age. The multistep approach used consisted of a facelift-type procedure at 12 years to improve the soft tissue profile. At 13 years, the transverse maxillary deficiency was treated with transpalatal distraction. At 14 years, the patient underwent bimaxillary orthognathic surgery with a genioplasty...
October 16, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29050453/cutaneous-lipomatosis-diagnosing-a-rare-condition
#15
Emanuele Miraglia, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
December 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28945313/severe-infantile-isolated-exocrine-pancreatic-insufficiency-caused-by-the-complete-functional-loss-of-the-spink1-gene
#16
Théa Venet, Emmanuelle Masson, Cécile Talbotec, Kareen Billiemaz, Renaud Touraine, Claire Gay, Sylvie Destombe, David N Cooper, Hugues Patural, Jian-Min Chen, Claude Férec
Exocrine pancreatic insufficiency (EPI) is rare in children, with most if not all cases occurring as part of syndromic conditions such as cystic fibrosis and Shwachman-Diamond syndrome. Here we report two cases, both presenting with severe EPI around 5 months of age. Characterized by diffuse pancreatic lipomatosis, they otherwise exhibited no remarkable deficiencies in other organs. Novel non-identical homozygous variants (a deletion removing the entire SPINK1 gene and an insertion of a full-length inverted Alu element into the 3'-untranslated region of the SPINK1 gene) resulting in the complete functional loss of the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor) were identified in each patient...
September 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28901441/profiling-of-differentially-expressed-genes-in-adipose-tissues-of-multiple-symmetric-lipomatosis
#17
Ke Chen, Linghao Wang, Wenjun Yang, Changfa Wang, Gui Hu, Zhaohui Mo
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by aberrant multiple and symmetric subcutaneous adipose tissue accumulation in the face, neck, shoulders, back, chest and abdomen, severely affecting the quality of life of patients. At present, precise MSL etiology and pathogenesis remain to be elucidated. The present study first utilized a digital gene expression technique with a next‑generation sequencing platform to profile differentially expressed genes in three cases of MSL vs. normal control tissue...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28898799/rare-diagnosis-of-intestinal-lipomatosis-complicated-by-intussusception-in-an-adult-a-case-report
#18
Kaitlin Kumar, Mahboub R Noori, Kishan M Patel, William Yuen, Carlos Bello
INTRODUCTION: Intestinal Lipomatosis consists of diffuse lipomas in various regions from the small to large bowel. They can remain asymptomatic or present with complications such as Intussusception. DISCUSSION: Intestinal lipomatosis complicated by Intussusception is a rare occurrence that has not been well documented. Rare condition management is difficult to approach because of the customizability each scenario requires. We hope through sharing our approach this can serve as a rough template to physicians who find themselves in a similar scenario...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28893005/pleural-and-mediastinal-lipomatosis-with-subpleural-fat-as-a-mimicker-of-pleural-effusion-a-rare-case-report
#19
Navkiran Kaur, Jasvir Singh, Samrin Haq, Sugandha Garg, Simmi Bhatnagar
Subpleural and mediastinal lipomatosis are benign intrathoracic conditions discovered incidentally on plain chest radiographs. However, diagnosis is usually made by Computed Tomography (CT). A case of both mediastinal and pleural lipomatosis associated with use of steroids in a 58-year-old male patient presented with complaints of breathlessness and dry cough is discussed in this case report. Intially, pleural effusion and bilateral upper lobe patchy opacities were suspected as a cause of breathlessness on the basis of chest x-ray findings...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28858184/idiopathic-spinal-epidural-fat-accumulation-is-associated-with-hyperlipidemia
#20
Shinichi Ishihara, Nobuyuki Fujita, Mitsuru Yagi, Takashi Tsuji, Takehiro Michikawa, Yuji Nishiwaki, Yasuyuki Fukui, Keisuke Horiuchi, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Kota Watanabe
STUDY DESIGN: Single-center retrospective analysis of consecutively collected data. OBJECTIVES: To determine the clinical characteristics of idiopathic spinal epidural lipomatosis (SEL). SUMMARY OF BACKGROUND DATA: SEL is associated with the overt accumulation of nonencapsulated adipose tissue in the epidural space, leading to spinal cord or nerve root compression. The etiology of this condition is currently not completely understood. METHODS: Data of 166 male patients who underwent primary surgery for lumbar spinal canal stenosis (LSS) from May 2013 to February 2016 were retrospectively reviewed...
August 29, 2017: Spine
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