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tuberous sclerosis guidelines

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https://www.readbyqxmd.com/read/28598544/dermatological-manifestations-of-tuberous-sclerosis-complex-tsc
#1
REVIEW
Daniel Ebrahimi-Fakhari, Sascha Meyer, Thomas Vogt, Claudia Pföhler, Cornelia Sigrid Lissi Müller
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement that frequently occurs in early childhood. Dermatologic manifestations include facial angiofibromas, hypomelanotic macules, fibrous cephalic plaques, shagreen patches, and ungual fibromas. The International TSC Consensus Conference in 2012 provided guidelines for standardized baseline evaluation and follow-up. Detailed clinical dermatological evaluation at the time of diagnosis and annual skin examination is recommended for both pediatric and adult populations...
June 9, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28594706/diagnosis-of-tuberous-sclerosis-complex-in-a-patient-referred-for-uncontrolled-hypertension-and-renal-dysfunction-a-case-highlighting-the-importance-of-proper-diagnostic-work-up-of-hypertensive-patients
#2
Pantelis A Sarafidis, Athanasios Bikos, Charalampos Loutradis, Stergios Tzikas, Efstratios Vakirlis, Eugenia Avdelidou, Dimitrios Zafeiriou, Aikaterini Papagianni, Vasileios Vassilikos
: We report a case of a 39-year-old woman with resistant hypertension and renal dysfunction. The patient was hospitalized 3 months earlier for dyspnea at the Department of Cardiology, where she was diagnosed with heart failure (left ventricle injection fraction: 25-30%), pulmonary hypertension, chronic kidney disease (serum creatinine: 1.58 mg/dl), and resistant hypertension and discharged with optimal heart failure treatment. At presentation to our clinic, apart from uncontrolled hypertension for more than 10 years and history of pre-eclampsia and fetal loss, the patient had obesity (BMI: 38 kg/m) and facial fibromas...
June 7, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28567709/renal-cell-cancers-unveiling-the-hereditary-ones-and-saving-lives-a-tailored-diagnostic-approach
#3
REVIEW
Georgios Kallinikas, Helai Habib, Dimitrios Tsimiliotis, Evangelos Koutsokostas, Barna Bokor
The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening...
May 31, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28511812/acute-management-of-symptomatic-subependymal-giant-cell-astrocytoma-with-everolimus
#4
Monica S Arroyo, Darcy A Krueger, Eileen Broomall, Charles B Stevenson, David N Franz
BACKGROUND: Subependymal giant cell astrocytomas (SEGA) are slow-growing tumors, which can cause obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC). These tumors require routine surveillance with magnetic resonance imaging. Current consensus guidelines recommend treatment of asymptomatic SEGAs with an mechanistic target of rapamycin (mTOR) inhibitor because these medications have demonstrated efficacy and safety in multiple prospective clinical trials. For symptomatic SEGAs, standard therapy typically involves surgical resection of the tumor to relieve mass effect and resolve hydrocephalus...
July 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#5
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28351834/cutaneous-manifestations-of-tuberous-sclerosis-complex-and-the-paediatrician-s-role
#6
REVIEW
Michael A Cardis, Cynthia Marie Carver DeKlotz
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediatricians can be a catalyst for facilitating early implementation of treatment strategies and establishing appropriate follow-up care...
March 28, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28302901/treatment-of-renal-angiomyolipoma-and-other-hamartomas-in-patients-with-tuberous-sclerosis-complex
#7
REVIEW
Joshua A Samuels
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection...
July 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#8
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28255411/structured-assessment-and-followup-for-patients-with-hereditary-kidney-tumour-syndromes
#9
Jean-Baptiste Lattouf, Stephen E Pautler, M Neil Reaume, Raymond H Kim, Melanie Care, Jane Green, Alan So, Philippe D Violette, Issam Saliba, Philippe Major, Shane Silver, Richard Leicht, Joan Basiuk, Simon Tanguay, Michael A S Jewett, Darrel Drachenberg
INTRODUCTION: Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated. METHODS: A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Expert consensus was used to define recommendations for initial assessment and followup...
July 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#10
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27994429/odontogenic-myxofibroma-of-gingiva-in-a-pediatric-patient-with-tuberous-sclerosis-a-rare-case-report
#11
Nidhi Bhoyar, Sunita Gupta, Sujoy Ghosh
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease, with an estimated incidence of 1 in 6000-1 in 10,000. TSC is an autosomal dominant syndrome involving heart, kidneys, lungs, and skin. The classic triad of TSC is seizures, mental retardation, and angiofibromas; this triad occurs in only 29% of patients. The clinical diagnostic guidelines on TSC are prepared based on clinical features, radiographic findings. The most common oral manifestations of TSC are fibroma, gingival hyperplasia, and enamel hypoplasia...
October 2016: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/27809914/efficacy-and-safety-of-everolimus-in-children-with-tsc-associated-epilepsy-pilot-data-from-an-open-single-center-prospective-study
#12
Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone, Martha Feucht
BACKGROUND: Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options. The mTOR-Inhibitor Everolimus (Votubia®) was approved for the treatment of subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML) in Europe in 2011. It's anticonvulsive/antiepileptic properties are promising, but evidence is still limited. Study aim was to evaluate the efficacy and safety of Everolimus in children and adolescents with TSC-associated epilepsies...
November 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27504842/review-of-the-tuberous-sclerosis-renal-guidelines-from-the-2012-consensus-conference-current-data-and-future-study
#13
REVIEW
J Chris Kingswood, John J Bissler, Klemens Budde, John Hulbert, Lisa Guay-Woodford, Julian R Sampson, Matthias Sauter, Jane Cox, Uday Patel, Frances Elmslie, Chris Anderson, Bernard A Zonnenberg
Renal-related disease is the most common cause of tuberous sclerosis complex (TSC)-related death in adults, and renal angiomyolipomas can lead to complications that include chronic kidney disease (CKD) and hemorrhage. International TSC guidelines recommend mammalian target of rapamycin (mTOR) inhibitors as first-line therapy for management of asymptomatic, growing angiomyolipomas >3 cm in diameter. This review discusses data regarding patient outcomes that were used to develop current guidelines for embolization of renal angiomyolipomas and presents recent data on 2 available mTOR inhibitors - sirolimus and everolimus - in the treatment of angiomyolipoma...
2016: Nephron
https://www.readbyqxmd.com/read/27310569/the-economic-burden-of-tuberous-sclerosis-complex-in-uk-patients-with-renal-manifestations-a-retrospective-cohort-study-in-the-clinical-practice-research-datalink-cprd
#14
John C Kingswood, Paola Nasuti, Keyur Patel, Melissa Myland, Vathani Siva, Elizabeth Gray
BACKGROUND: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder in which renal manifestations occur in ∼50% of children and 80% of adults. Since these often present alongside other manifestations, renal TSC is likely to incur significant costs. This study aims to quantify healthcare resource use (HCRU) and costs for renal TSC patients in the UK. METHODS: TSC patients in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from January 1987-June 2013...
December 2016: Journal of Medical Economics
https://www.readbyqxmd.com/read/27079594/optical-coherence-tomography-to-monitor-vigabatrin-toxicity-in-children
#15
Catherine Origlieri, Brooke Geddie, Bethany Karwoski, Madison M Berl, Nancy Elling, William McClintock, Janet Alexander, Marlet Bazemore, Heather de Beaufort, Kelly Hutcheson, Marijean Miller, Jonathan Taylormoore, Mohamad S Jaafar, William Madigan
PURPOSE: The antiepileptic drug vigabatrin is known to cause permanent loss of vision. Both visual field testing and electroretinogram are used to detect retinal damage. Adult data on optical coherence tomography (OCT) shows that retinal nerve fiber layer (RNFL) thinning may be an early indicator of vigabatrin-induced retinal toxicity. The purpose of this study was to investigate whether OCT can detect early vigabatrin-induced retinal toxicity in children. METHODS: Pediatric patients (≤18 years of age) requiring vigabatrin for seizure control who were followed at our institution were invited to participate...
April 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/26910805/treatment-of-infantile-spasms-report-of-the-interdisciplinary-guideline-committee-coordinated-by-the-german-speaking-society-for-neuropediatrics
#16
REVIEW
Daniel Tibussek, Jörg Klepper, Rudolf Korinthenberg, Gerhard Kurlemann, Dietz Rating, Gabriele Wohlrab, Markus Wolff, Bernhard Schmitt
Objectives This report aims to define treatment goals, to summarize the evidence level (EL) of different treatment options for infantile spasms (IS), both in terms of efficacy and adverse effect, and to give recommendations for the management of IS. Methods The Cochrane and Medline (1966-July 2014) databases were searched. Literature known to the guideline working group and identified through citations was also considered. The results of previously published guidelines were taken into account in our analysis...
June 2016: Neuropediatrics
https://www.readbyqxmd.com/read/26759276/meta-analysis-of-stomatitis-in-clinical-studies-of-everolimus-incidence-and-relationship-with-efficacy
#17
H S Rugo, G N Hortobagyi, J Yao, M Pavel, A Ravaud, D Franz, F Ringeisen, J Gallo, N Rouyrre, O Anak, R Motzer
BACKGROUND: Everolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, is used to treat solid tumors and tuberous sclerosis complex (TSC). Stomatitis, an inflammation of the mucous membranes of the mouth, is a common adverse event associated with mTOR inhibitors, including everolimus. We conducted a meta-analysis of data from seven randomized, double-blind phase 3 clinical trials of everolimus to determine the clinical impact of stomatitis on efficacy and safety. PATIENTS AND METHODS: Data were pooled from the safety sets of solid tumor [breast cancer (BOLERO-2 and BOLERO-3), renal cell carcinoma (RECORD-1), carcinoid tumors (RADIANT-2), and pancreatic neuroendocrine tumors (RADIANT-3)] and TSC studies (EXIST-1 and EXIST-2)...
March 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/26067126/neurological-and-neuropsychiatric-aspects-of-tuberous-sclerosis-complex
#18
REVIEW
Paolo Curatolo, Romina Moavero, Petrus J de Vries
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex, causing overactivation of the mammalian target of rapamycin (mTOR) protein complex. The surveillance and management guidelines and clinical criteria for tuberous sclerosis were revised in 2012, and mTOR inhibitors are now recommended as treatment options for subependymal giant cell astrocytomas and renal angiomyolipomas-two common features of the disease...
July 2015: Lancet Neurology
https://www.readbyqxmd.com/read/26022167/tuberous-sclerosis-complex
#19
REVIEW
Francis J DiMario, Mustafa Sahin, Darius Ebrahimi-Fakhari
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are variable in each individual. Herein, advances in the understanding of molecular mechanisms in tuberous sclerosis complex are reviewed, and current guidelines for diagnosis, treatment, follow-up, and management are summarized...
June 2015: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/25860851/tuberous-sclerosis-complex-new-criteria-for-diagnostic-work-up-and-management
#20
REVIEW
Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Groeppel, Constanze Jonak, Angelika Muehlebner, Daniela Prayer, Andreas Reitner, Martha Feucht
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder, characterized by predominantly benign tumors in potentially all organ systems. System involvement, severity of clinical symptoms and the response to treatment are age-dependent and heterogeneous. Consequently, the disorder is still not recognized in a considerable number of patients. The diagnostic criteria and the guidelines for surveillance and management of patients with TSC were revised, and the establishment of specialized TSC-centers was strongly recommended during an International Consensus Conference in 2012...
August 2015: Wiener Klinische Wochenschrift
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