National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex

2000 ◽  
Vol 57 (5) ◽  
pp. 662 ◽  
Author(s):  
Mark H. Hyman ◽  
Vicky H. Whittemore
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Consensus Conference ◽  
National Institutes Of Health

scholarly journals Demographic, Clinical, and Radiographic Characteristics of Cerebral Aneurysms in Tuberous Sclerosis Complex

2020 ◽  
Author(s):  
Mehdi Chihi ◽  
Ulrich Sure ◽  
Ramazan Jabbarli
Keyword(s):  
Systematic Review ◽  
Magnetic Resonance ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Mr Angiography ◽  
Cerebral Aneurysms ◽  
Consensus Conference ◽  
Current Evidence ◽  
Recent Systematic Review

To date, little is known on the prevalence, incidence, and characteristics of intracranial aneurysms (IA) in patients with tuberous sclerosis complex (TSC). Based on our recent systematic review and two cases treated in our institute, we summarize the current evidence concerning the distinct characteristics of these aneurysms. In contrast to saccular IA in healthy adults, IA in TSC present commonly with large or even giant sac size and fusiform configuration, location predilection on the internal carotid artery remote from the branching zones, remarkable higher prevalence of pediatric cases, inverted sex-ratio, and suspected rapid growth. Although the pathogenesis of IA in TSC is still unclear, all these features might point to the crucial role a congenital defect in the development of IA rather than extrinsic or environmental factors. Furthermore, we discuss the enhancement of the regular magnetic resonance (MR) imaging screening suggested by the last recommendations of the 2012 International TSC Consensus Conference with cranial time-of-flight MR angiography in order to enable timely identification and treatment of frequently complex IA in TSC.

scholarly journals Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

2013 ◽  
Vol 49 (4) ◽  
pp. 255-265 ◽  
Author(s):  
Darcy A. Krueger ◽  
Hope Northrup ◽  
Hope Northrup ◽  
Darcy A. Krueger ◽  
Steven Roberds ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Consensus Conference ◽  
Management Recommendations

scholarly journals Tuberous Sclerosis Complex : A Case Report

2019 ◽  
Vol 15 (2) ◽  
pp. 127
Author(s):  
Aunur Rofiq ◽  
Lita Setyowati ◽  
Aninda Fitri Nugrahani
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Skin Color ◽  
De Novo ◽  
Suppressor Gene ◽  
Consensus Conference ◽  
De Novo Mutation ◽  
Neurocutaneous Disorder ◽  
Clinical Diagnostic Criteria

Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited neurocutaneous disorder. Tuberous Sclerosis Complex is caused by mutations in tumor suppressor gene (TSC), both TSC1 and TSC2.  In approximately two-thirds of cases neither parent has signs of TSC and the disease is caused by a de  novo mutation. Tuberous Sclerosis Complex is classically identified by the Vort's triad in the presence of angiofibroma, mental retardation, and epilepsy. A 17-year-old woman with a major complaint of a facial bump that appeared at birth and got bigger when she reached puberty. There are white patches on the patient's body from birth. On the scalp obtained the presence of skin color plaque, while at the back and right knee obtained shagreen patch. Patientwas diagnosed with epilepsy and mental retardation by the pediatric department. No family history has the same complaints as patient. Histopathologic examination of facial bumps taken by shaving biopsy suggests the presence of hemangiomas. Based on the clinical diagnostic criteria from International Tuberous Sclerosis Complex Consensus Conference 2012, the patient meets two major criteria, macular hypopigmentation and shagreen patch so it is included in "definite diagnosis".

scholarly journals Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

2021 ◽  
Vol 8 (3) ◽  
pp. 236-252
Author(s):  
Marine Cascarino ◽  
Stéphanie Leclerc-Mercier
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorders ◽  
Dental Enamel ◽  
Skin Lesions ◽  
Consensus Conference ◽  
Pediatric Hospital ◽  
Cutaneous Lesions ◽  
Skin Biopsies ◽  
Minor Criteria

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The clinical examination of the skin is crucial because seven diagnostic criteria are dermatological: four major (hypomelanotic macules, angiofibroma or fibrous cephalic plaques, ungual fibromas, shagreen patches) and three minor criteria (confetti skin lesions, dental enamel pits, intraoral fibromas). Skin biopsy is commonly performed to assert the diagnosis of TSC when the clinical aspect is atypical. Histopathology of TSC cutaneous lesions have been poorly reported until now. In this article, we review the histologic features described in the literature and share our experience of TSC skin biopsies in our pediatric hospital specialized in genetic disorders. Both hypomelanotic lesions and cutaneous hamartomas (angiofibroma/fibrous cephalic plaques, ungual fibromas, shagreen patches) are discussed, including the recent entity called folliculocystic and collagen hamartoma, with a special emphasis on helpful clues for TSC in such lesions.

Der Tuberöse-Sklerose-Komplex

2010 ◽  
Vol 10 (08) ◽  
pp. 477-484
Author(s):  
R. R. Mettin ◽  
M. K. Bernhard ◽  
M. Landgraf ◽  
A. Merkenschlager ◽  
L. Bergmann ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Post Partum ◽  
Consensus Conference ◽  
Tuberöse Sklerose ◽  
Kognitive Dysfunktion ◽  
Diagnostik Und Therapie ◽  
Kutane Manifestationen ◽  
Tuberöse Hirnsklerose ◽  
Autistische Störungen

ZusammenfassungDie tuberöse Sklerose (TS; Synonyme: tuberöse Hirnsklerose, Morbus Bourneville-Pringle, Tuberöse-Sklerose-Komplex [TSC]) ist nach der Neurofibromatose Typ 1 die zweithäufigste Form der Phakomatosen, wobei sie seltener diagnostiziert wird als die Inzidenz vermuten lässt (hohe Dunkelziffer). Während die Penetranz dieser neuroektodermalen Dysplasie bei Mutationen im TSC1- oder TSC2-Gen nahezu vollständig ist, variiert die Expressivität von Merkmalen stark und folgt keiner strikten Genotyp-Phänotyp-Korrelation. Das breite Spektrum klinischer Manifestationen stellt in Hinblick auf Diagnostik und Therapie eine inter-disziplinäre Herausforderung dar. Um eine frühzeitige, evidenzbasierte Betreuung und Therapie durchzuführen, sollten lange Latenzzeiten zwischen Erstmanifestation und einer definitiven klinischen und/oder humangenetischen Diagnose vermieden werden. Dazu dienen die revidierten diagnostischen Major- und Minorkriterien der Tuberous Sclerosis Complex Consensus Conference, auf deren Grundlage die Diagnose einer TS gestellt wird. Typische kutane Manifestationen sind kutane hypomelanotische Makulae, faziale Angiofibrome oder fibröse Plaques, Chagrin-Lederflecken und Koenen-Tumoren. Im ZNS sind es kortikale und subkortikale Tubera, radiale Migrationslinien der Substantia alba, subependymale Noduli und Riesenzellastrozytome, neurologisch funktionelle Krampfanfälle, neuropsychologisch kognitive Dysfunktion, Gedächtnisstörungen, Aufmerksamkeitsdefizite, Verhaltensauffälligkeiten, Lernschwierigkeiten und autistische Störungen. Weitere Organmanifestationen sind renale Angiomyolipome sowie Nierenzysten, kardiale Rhabdomyome, die pulmonale Lymphangioleiomyomatose sowie retinale Hamartome. Seltener diagnostizierte Merkmale sind extrarenale Hamartome von Leber, Milz, Darm und Zunge oder Café-au-laitFlecken und Strabismus. Einzelne Manifestationen sind nicht beweisend für eine TS, sie können jedoch eine oligosymptomatische Verlaufs-form (Minorform) der TS anzeigen. Bei Verdacht auf eine TS gibt die Tuberous Sclerosis Alliance Leitlinien zu Diagnostik, Verlaufskontrolle und Screening. Dabei werden einige Manifestationen wie extrarenale Hamartome nicht berücksichtigt, obwohl diesen eine diagnostische Relevanz zukommt. Neben der klinischen Diagnostik post partum besteht im Einzelfall die Möglichkeit einer pränatalen Diagnostik mittels Sonografie, MRT oder genetischer Pränataldiagnostik. Die Therapie der tuberösen Skle-rose ist bislang symptomatisch, in Form von pharmakologischer und chirurgischer antikonvulsiver Therapie sowie frühzeitiger Erkennung und Verhütung von Komplikationen. Neuerdings gibt es Erfolg versprechende Ansätze für eine kausale Pharmakotherapie der TS.

scholarly journals Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

2013 ◽  
Vol 49 (4) ◽  
pp. 243-254 ◽  
Author(s):  
Hope Northrup ◽  
Darcy A. Krueger ◽  
Hope Northrup ◽  
Darcy A. Krueger ◽  
Steven Roberds ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Diagnostic Criteria ◽  
Tuberous Sclerosis Complex ◽  
Consensus Conference

scholarly journals Tuberous sclerosis in pregnancy: a rare genetic disease requiring multidisciplinary approach in pregnancy

2020 ◽  
Vol 9 (7) ◽  
pp. 3075
Author(s):  
Shikha Madan ◽  
Pardeep Kumar ◽  
Smriti Anand ◽  
Neetu Sangwan
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Phenotypic Variability ◽  
Genetic Disorder ◽  
Pathogenic Mutation ◽  
Consensus Conference ◽  
Tumour Suppressor Genes ◽  
Clinical Criteria ◽  
Complete Penetrance ◽  
In Pregnancy

Tuberous sclerosis complex (TSC) is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). Due to the wide phenotypic variability in TSC, the disease is often not recognized. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International tuberous sclerosis complex consensus conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumour suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. Authors present with a rare case report of a patient with TSC presenting at term.

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