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Lymphatic malformation

Alexandra Yannoutsos, Julie Malloizel-Delaunay, Emilie Tournier, Abdelaziz Abid, Alessandra Bura-Rivière
In this observation, we report an unusual presentation of a pilomatricoma in an 8-year-old girl who was initially referred to the department of vascular medicine for diagnosis and care of a suspected mixed lymphatic venous malformation. The lesion on her left shoulder presented as a giant bluish-purple red solitary mass, painful and rapidly growing, measuring 7 cm in anteroposterior diameter. This mass did not present the typical characteristics of a lymphatic venous malformation but exhibited warning signs of malignancy on clinical examination and imaging...
February 27, 2018: American Journal of Dermatopathology
Mustafa Mert Başaran, Selmin Özgürsoy Karataylı, Arzu Pampal, Şefik Halit Akmansu
Lymphatic malformations (LM) are benign congenital malformations of the lymphatic system. They are frequently seen in the neck and sometimes can be life-threatening due to compression to the airway. Treatment modalities are widespread including surgical excision, radiotherapy, laser therapy, and application of intralesional sclerosing agents. We report the successful treatment of cervical LM in a 3-year-old boy who presented with a sudden onset of a large cystic mass in the posterior cervical triangle and was treated with repeated injections of intralesional bleomycin...
December 2017: Turkish Archives of Otorhinolaryngology
Karina Miura Costa, Amulya Kumar Saxena
BACKGROUND: Postoperative chylothorax occurs due to trauma to lymphatic vessels and can occur after any thoracic procedure. This study reviewed recent literature to evaluate the management and outcomes of surgical chylothorax in neonates. METHODS: PubMed database was searched for articles in English, Portuguese and Spanish from 2000 to 2016. Data were collected for surgery, chylothorax management, complications, mortality and length of hospital stay (LOS). RESULTS: Twenty studies offered 107 neonates: congenital diaphragmatic hernia (CDH) (n = 76, 71%), cardiac malformations (n = 25, 23...
March 5, 2018: World Journal of Pediatrics: WJP
Sumanta Kumar Kolay, Rajkumar Parwani, Sangeeta Wanjari, Pallav Singhal
Lymphangiomas are benign malformations that represent hamartoma of malformed lymphatics and are composed of cystically dilated lymphatic channels which do not communicate or drain into other lymphatic channels or veins leading to accumulation of lymph. They are congenital malformations with rare occurrence in oral cavity within which tongue dorsum is the most affected site. Venous malformations are often difficult to differentiate from lymphatic malformations leading to the development of several lymphatic markers like D2-40 which seems to be useful for distinguishing vascular from lymphatic vessels...
January 2018: Journal of Oral and Maxillofacial Pathology: JOMFP
Shigeru Ueno, Akihiro Fujino, Yasuhide Morikawa, Tadashi Iwanaka, Yoshiaki Kinoshita, Michio Ozeki, Shunsuke Nosaka, Kentaro Matsuoka, Noriaki Usui
PURPOSE: Clinical guidelines on lymphatic malformation (LM) influencing the airway have been crafted in the Research Project for Intractable Diseases. We herein report an analysis of a nationwide survey of mediastinal LM and the therapeutic recommendations. METHODS: Eighty-seven registered cases with mediastinal involvement were analyzed with a review of the literature. RESULTS: Mediastinal LM was located more often in the upper and anterior mediastinum and was found without any accompanying symptoms in 56/87 cases...
February 26, 2018: Surgery Today
Christopher Blackmore, Deborah Thompson, Johan Van Limbergen, Anthony Vandersteen, Rodrigo Romao
No abstract text is available yet for this article.
February 21, 2018: Journal of Pediatric Gastroenterology and Nutrition
Megan K Mills, Bryn Putbrese, Hailey Allen, Sarah E Stilwill
Lymphangiomatosis is an uncommon disease process characterized by multisystem lymphatic malformations that can involve numerous body systems, including organs, muscles, soft tissues, and bones. Involvement of the nervous system is rare and has even been previously described as a site of sparing. We present a case of a 24-year-old female with known lymphangiomatosis, presenting with acute onset of lower extremity paresthesias, weakness, and new urinary retention. MRI of the pelvis revealed lymphangiomatosis of the sacral plexus, which has not been previously reported...
February 21, 2018: Skeletal Radiology
Ashoke Khanwalkar, John Carter, Bharat Bhushan, Jeff Rastatter, John Maddalozzo
INTRODUCTION: Limited information exists regarding short-term morbidity in the resection of lymphatic malformations. In order to make informed collaborative medical decisions, clinicians and families would benefit from information on 30-day outcomes and the expected course associated with surgical excision of lymphatic malformations. METHODS: A retrospective chart review was conducted to develop a case series of patients who underwent resection of lymphatic malformation at a pediatric tertiary care center between June 1, 2007 and September 30, 2016...
March 2018: International Journal of Pediatric Otorhinolaryngology
Lara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Noelia Agra, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín-Arenas, Ángela Del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda-Arenas, María V Gomez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L Ruiz-Perez, Julián Nevado, Pablo Lapunzina, Juan C Lopez-Gutierrez, Victor Martinez-Glez
PurposeCLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.MethodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing...
February 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sandro Michelini, Stefano Paolacci, Elena Manara, Costantino Eretta, Raul Mattassi, Byung-Boong Lee, Matteo Bertelli
Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders...
February 9, 2018: Journal of Medical Genetics
Inês M Carqueja, Joel Sousa, Armando Mansilha
BACKGROUND: Vascular malformations are congenital lesions with complex clinical presentations and management. Their classification and treatment options have considerably changed throughout the years, with conflicting evidence in the literature. In this article, we aim to review the classification, diagnosis and treatment of the main vascular malformations. METHODS: A thorough non-systematic review of the literature was conducted using PubMed/Medline. Seventy-nine articles were selected and included, according to their scientific relevance and relation with the subject...
February 8, 2018: International Angiology: a Journal of the International Union of Angiology
A Sindel, A Sayan, Ö Özgür, T Sindel, V Ilankovan
The aim of this study was to evaluate the efficacy of fluoroscopy-guided percutaneous injection of bleomycin as the primary treatment for low-flow vascular malformations. A total of 34 patients (mean (range) age 24 (8-51) years) with orofacial vascular lesions were treated in the Department of Interventional Radiology and Maxillofacial Surgery. There were 20 low-flow venous malformations, 11 lymphatic malformations, and three of mixed type. All patients were treated by fluoroscopy-guided percutaneous injection of a mixture of bleomycin (mean (range) 15 (5-15)mg) and a radio-opaque agent (Ultravist® (iopromide), Bayer)/session...
February 5, 2018: British Journal of Oral & Maxillofacial Surgery
René Müller-Wille, Moritz Wildgruber, Maliha Sadick, Walter A Wohlgemuth
BACKGROUND:  The International Society for the Study of Vascular Anomalies (ISSVA) categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided into slow-flow (venous, lymphatic, and capillary malformation) and fast-flow malformations (arteriovenous malformation and arteriovenous fistula). This interdisciplinary classification has therapeutic implications. METHODS:  The objective of this article is to provide concise information about the current terminology and treatment strategies of peripheral vascular malformations, based on the currently available literature, with a focus on interventional therapy of venous malformations (VM), lymphatic malformations (LM), arteriovenous malformations (AVM) and arteriovenous fistulae (AVF)...
February 7, 2018: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
Wolf A Lagrèze, Lutz Joachimsen, Nikolai Gross, Christian Taschner, Jochen Rössler
Microcystic lymphatic malformations are difficult to treat surgically, especially when located in the orbital apex. Recently, pharmacologic inhibition of the mTOR pathway by sirolimus was reported as a safe and efficacious treatment option for lymphatic malformations (also known as lymphangiomas). We report the case of a young male patient in which a unilateral, retrobulbar lymphatic malformation regressed to a large extent under treatment with 1 mg sirolimus given orally twice a day over a period of six months...
February 6, 2018: Orbit
Sheila Galvin, Stephen R Flint, Mary E Toner, Claire M Healy, Kumara Ekanayake
Lymphangiectasias, or acquired lymphangiomas, are rare in the oral cavity, more typically occurring on the skin or the genital area and, to our knowledge, have not been reported previously in association with Crohn's disease. Lymphangiectasias can occur at any age and develop secondary to chronic obstruction of the lymphatics. This differentiates them from congenital lymphangiomas, which are congenital malformations of the lymphatic system. We present 2 cases of oral lymphangiectasias associated with Crohn's disease, one of which was treated successfully with cryotherapy...
December 28, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Ilaria Amodeo, Mariarosa Colnaghi, Genny Raffaeli, Giacomo Cavallaro, Fabrizio Ciralli, Silvana Gangi, Ernesto Leva, Lorenzo Pignataro, Irene Borzani, Lorenza Pugni, Fabio Mosca
RATIONALE: Lymphatic malformations (LMs) are rare and benign anomalies resulting from the defective embryological development of the primordial lymphatic structures. Due to their permeative growth throughout all tissue layers, treatment is often challenging. Small asymptomatic lesions can be conservatively managed, while symptomatic lesions require active management. Surgery has been historically considered the treatment of choice, but today less invasive therapeutic options are preferred (sclerotherapy, laser therapy, oral medications)...
December 2017: Medicine (Baltimore)
Ankur Bhatnagar, Vijai Datta Upadhyaya, Basant Kumar, Zafar Neyaz, Ajay Kushwaha
Objectives: Lymphatic malformations (LMs) are aberrant proliferation of sequestrated lymphatic vessels during early embryogenesis and do not communicate directly with the general lymphatic system. The absence of vascular flow is the hallmark of LMs and is usually symptomless apart from painless disfiguring mass with concerns regarding cosmesis. Design: Sclerotherapy has gained prominence as a preferred treatment modality for macrocystic lesions. Here, we present our experience with use of aqueous bleomycin as intralesional sclerosing agent, an economical first-line treatment for macrocystic variant of LMs in children and adults...
July 2017: National Journal of Maxillofacial Surgery
Su-Ann Lui, Yoke Lin Nyo, V P Mali
Mesenteric lymphatic malformations are rare benign tumors that are most commonly found in children. The presentation of these tumors can be variable. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their size may be increased by infection. A 3-year 10-month-old boy presented with rhinorrhea and cough followed by acute abdominal pain. Ultrasonography revealed a lobulated mass in the lower abdomen. Computerized tomography scan of the abdomen diagnosed an inflamed appendix with perforation...
January 2018: Journal of Indian Association of Pediatric Surgeons
Xingchen Pan, Yutong Dong, Tingting Yuan, Yuzhu Yan, Dan Tong
RATIONALE: Hemolymphangioma is a rare, noninvasive benign tumor of mesenchymal origin resulting from malformation of vascular and lymphatic vessels. The incidence of hemolymphangioma in the spinal canal is low. PATIENT CONCERNS: This report describes 2 patients with a lesion located in the thoracic spinal canal or spinal epidural space, who were misdiagnosed with suspected meningioma or suspected schwannoma, respectively, based on magnetic resonance imaging (MRI)...
December 2017: Medicine (Baltimore)
Jiang Lihua, Gao Feng, Mao Shanshan, Xu Jialu, Jiang Kewen
RATIONALE: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs...
November 2017: Medicine (Baltimore)
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