Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria:

Published on Dec 1, 1998in Journal of Child Neurology2.09
· DOI :10.1177/088307389801301206
E.S. Roach6
Estimated H-index: 6
(UTSW: University of Texas Southwestern Medical Center),
Manuel Gómez Pallarés58
Estimated H-index: 58
(Mayo Clinic),
Hope Northrup34
Estimated H-index: 34
(University of Texas at Austin)
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to reflect both new clinical information about tuberous sclerosis complex and an improved understanding of the disorder derived from molecular genetic studies. Based on this new information, some clinical signs once regarded as pathognomonic for tuberous sclerosis complex are now known to be less specific. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for tuberous sclerosis complex. Accordingly, the clinical and radiographic features of tuberous sclerosis complex have now been divided into major and minor categories based on the apparent degree of specificity for tuberous sclerosis complex of each feature. A definitive diagnosis of tuberous sclerosis complex now requires two or more distinct types of lesions, rather than multiple lesions of the same type in ...
  • References (30)
  • Citations (841)
Published on Jun 28, 2008in Clinical Genetics4.10
David Webb8
Estimated H-index: 8
(Cardiff University),
John P. Osborne1
Estimated H-index: 1
(Royal Hospital for Sick Children),
Antonia Clarke3
Estimated H-index: 3
(Royal Hospital for Sick Children)
Thirty patients with tuberous sclerosis (from 29 different families) were examined for evidence of macroscopically visible pitted enamel hypoplasia. Of 23 patients with permanent teeth, 11 (48%) showed multiple enamel pits (mean 4.6 pits, range 3–9), but none were seen in six patients with deciduous teeth. Five of 563 controls (0.88%) had similar pitted enamel hypoplasia. Simple dental examination may be a useful adjunct in the assessment of patients with permanent teeth when a diagnosis of tube...
Published on Jun 28, 2008in Clinical Genetics4.10
N. A. Lygidaias1
Estimated H-index: 1
(University of Oxford),
R. H. Lindenbaum2
Estimated H-index: 2
(Churchill Hospital)
Thirty-six families with tuberous sclerosis (TS) including 49 affected persons and 68 apparently unaffected first-degree relatives were examined for dental abnormality. Fifty unrelated controls were similarly examined. Clinically observed multiple enamel pits (pitted enamel hypoplasia) were noted in 71% of persons with typical TS and in one out of 10 “atypical” cases. Enamel pits were rarely seen, and in small numbers only, in the control series, and they were rare in the otherwise apparently no...
Published on Jul 1, 1998in The Journal of Urology5.65
David H. Ewalt11
Estimated H-index: 11
(UTSW: University of Texas Southwestern Medical Center),
Eugene Sheffield2
Estimated H-index: 2
(UTSW: University of Texas Southwestern Medical Center)
+ 2 AuthorsE. Steve Roach22
Estimated H-index: 22
(UTSW: University of Texas Southwestern Medical Center)
AbstractPurpose: Renal lesions, including angiomyolipoma, renal cysts (simple and polycystic kidney disease) and renal cell carcinoma, develop in patients with tuberous sclerosis complex. While there is limited information that these lesions may grow in adults with tuberous sclerosis complex, the incidence, characterization and growth rate in children have not been reported. Also, the age at which these lesions first appear, thus providing insight into their natural history, is unknown. We prese...
Published on Apr 1, 1998in American Journal of Human Genetics9.92
Teresa Smolarek6
Estimated H-index: 6
(UC: University of Cincinnati),
Lisa L. Wessner3
Estimated H-index: 3
(Fox Chase Cancer Center)
+ 3 AuthorsElizabeth P. Henske60
Estimated H-index: 60
(Fox Chase Cancer Center)
Summary Lymphangiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Lung transplantation is the only consistently effective therapy for LAM. Microscopically, LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other disease (referred to as "sporadic LAM") or in association with tuberous sclerosis complex (TSC). TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures, mental reta...
Published on Apr 1, 1998in Journal of Child Neurology2.09
Orlando A. Torres1
Estimated H-index: 1
(Children's Medical Center of Dallas),
E.S. Roach1
Estimated H-index: 1
(Texas Scottish Rite Hospital for Children)
+ 4 AuthorsDerek A. Bruce49
Estimated H-index: 49
We present 19 patients with tuberous sclerosis complex and subependymal giant cell astrocytoma. The mean age at the time of tumor diagnosis was 9.4 years (range, 1.5 to 21 years). Computed cranial tomography (CT) or cranial magnetic resonance imaging (MRI) identified the lesion which was resected in all cases. Seven patients had hydrocephalus and there was an interval increase in the tumor size or a large tumor without hydrocephalus in 12 patients. Surgical criteria included: (1) presence of hyd...
Published on Apr 1, 1998in Journal of Investigative Dermatology6.29
Svetlana Pack45
Estimated H-index: 45
Maria L. Turner56
Estimated H-index: 56
+ 5 AuthorsThomas N. Darling32
Estimated H-index: 32
Multiple endocrine neoplasia type 1 (MEN1), the heritable tendency to develop tumors of the parathyroid, pituitary, and entero-pancreatic endocrine tissues, is the consequence of a germline mutation in the MEN1 gene. Endocrine tumors in these patients result when the mutant MEN1 allele is accompanied by loss of the normal MEN1 allele. Recently it was reported that MEN1 patients also exhibit several cutaneous tumors, including multiple angiofibromas, collagenomas, and lipomas. The purpose of this...
Published on Dec 1, 1997in Human Molecular Genetics4.54
John R.W. Yates53
Estimated H-index: 53
(University of Cambridge),
Inge van Bakel3
Estimated H-index: 3
(University of Cambridge)
+ 4 AuthorsAndrew Green72
Estimated H-index: 72
(University of Cambridge)
We have investigated a family in which three siblings with the autosomal dominant disorder tuberous sclerosis had unaffected parents. The family were typed for polymorphic markers spanning the two genes known to cause tuberous sclerosis located at 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding a mutation in TSC1 as the cause of the disease. For the TSC2 markers all the affected children had the same maternal and pate...
Published on Aug 8, 1997in Science41.04
Marjon van Slegtenhorst19
Estimated H-index: 19
(EUR: Erasmus University Rotterdam),
Ronald de Hoogt1
Estimated H-index: 1
(EUR: Erasmus University Rotterdam)
+ 38 AuthorsJanet M. Young28
Estimated H-index: 28
(UCL: University College London)
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). TheTSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-tw...
Published on Jul 1, 1997in Archives of Dermatology
Thomas N. Darling32
Estimated H-index: 32
(NIH: National Institutes of Health),
Monica C. Skarulis56
Estimated H-index: 56
(NIH: National Institutes of Health)
+ 3 AuthorsMaria L. Turner56
Estimated H-index: 56
(NIH: National Institutes of Health)
Objective: To evaluate patients with multiple endocrine neoplasia type 1 (MEN1) for cutaneous manifestations. Design: Survey during a 3-year period. Setting: The National Institutes of Health, a tertiary referral research hospital in Bethesda, Md. Patients: A consecutive sample of 32 individuals with previously diagnosed MEN1 who were not preselected for the presence of skin lesions were examined for cutaneous abnormalities. None of the patients or family members were diagnosed as having tuberou...
Published on Jul 1, 1997in American Journal of Human Genetics9.92
R.R. Angell16
Estimated H-index: 16
(Edin.: University of Edinburgh)
Summary Reject oocytes from in vitro—fertilization patients are currently the only practical source of human oocyte material available for meiotic studies in women. Two hundred clearly analyzable second meiotic (MII) metaphase oocytes from 116 patients were examined for evidence of first meiotic (MI) division errors. The chromosome results, in which 67% of oocytes had a normal 23, X chromosome complement but none had an extra whole chromosome, cast doubt on the relevance, to human oocytes, of th...
Cited By841
Published on Jul 1, 2019in Pediatric Neurology2.33
Sergiusz Jozwiak19
Estimated H-index: 19
Monika Słowińska14
Estimated H-index: 14
+ 8 AuthorsKamil Sijko
Abstract Backgroud. Drug-resistant epilepsy is the main risk factor for future intellectual disability in patients with tuberous sclerosis complex (TSC). Clinical epileptic seizures are often preceded by electroencephalographic changes that provide an opportunity for preventive treatment. The study aimed to evaluate neuropsychological and epilepsy outcomes at school age in tuberous sclerosis complex children who received preventive antiepileptic treatment in infancy. Methods A prospective, non-r...
Published on Jul 19, 2018in Nephrology Dialysis Transplantation4.20
John J. Bissler29
Estimated H-index: 29
(St. Jude Children's Research Hospital),
Klemens Budde50
Estimated H-index: 50
+ 7 AuthorsAntonia Ridolfi5
Estimated H-index: 5
Published on May 1, 2019in European Journal of Ophthalmology1.72
Aya Kato1
Estimated H-index: 1
Akira Obana11
Estimated H-index: 11
+ 2 AuthorsHiroyuki Sasano2
Estimated H-index: 2
Purpose:To describe the optical coherence tomography findings of retinal astrocytic hamartoma of tuberous sclerosis and to confirm the association between the type of retinal astrocytic hamartoma and systemic manifestations in Japanese patients.Study Design:A retrospective observational case series.Methods:The medical records of 35 patients with tuberous sclerosis who underwent ophthalmological examination were reviewed. The retinal astrocytic hamartomas were classified into four types based on ...
Published on Feb 1, 2019in Journal of Obstetrics and Gynaecology Research1.12
Hikari Yoshizawa (Fujita Health University), Satoshi Kawai2
Estimated H-index: 2
(Fujita Health University)
+ 3 AuthorsTakuma Fujii17
Estimated H-index: 17
(Fujita Health University)
Published on Jan 1, 2019in Brain & Development1.76
Masashi Mizuguchi35
Estimated H-index: 35
(UTokyo: University of Tokyo),
Hiroko Ikeda18
Estimated H-index: 18
+ 6 AuthorsMasaya Kubota23
Estimated H-index: 23
Abstract Background Epilepsy and autism spectrum disorder (ASD) are the common neurological manifestations of tuberous sclerosis complex (TSC). EXIST-3 study has recently demonstrated that everolimus reduces seizures in patients with TSC and refractory epilepsy. Here we report the efficacy and safety of everolimus for treatment-refractory seizures in Japanese patients of EXIST-3, along with the exploratory analysis evaluating the everolimus effect on comorbid ASD symptoms in these patients. Meth...
Published on Dec 1, 2018in Acta radiologica short reports
Dolores Ferrara , Gianfranco Vallone + 4 AuthorsMassimo Imbriaco23
Estimated H-index: 23
Tuberous sclerosis (TS) is a relatively rare multi-organ disorder generally diagnosed in infancy and described as a clinical triad of sebaceous adenoma, mental retardation, and seizures. Angiomyoli...
Published on Dec 1, 2018in Orphanet Journal of Rare Diseases3.69
Mann L2
Estimated H-index: 2
(Saarland University),
Martin Poryo4
Estimated H-index: 4
(Saarland University)
+ 8 AuthorsSascha Meyer4
Estimated H-index: 4
(Saarland University)
Background Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In 2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are limited.
Published on Dec 1, 2018in Annales De Dermatologie Et De Venereologie0.70
M. Battini , E. Casassa1
Estimated H-index: 1
+ 2 AuthorsJ. Mazereeuw-Hautier23
Estimated H-index: 23
Resume But Decrire dans une large cohorte pediatrique les caracteristiques des macules hypopigmentees ou completement depigmentees (hypo- ou achromiques) qui n’ont pas de diagnostic evident, mais pourraient faire suspecter une sclerose tubereuse de Bourneville (STB). Methodes Il s’agit d’une etude retrospective monocentrique realisee entre 2010 et 2017 dans un centre de reference des maladies rares de la peau, incluant tout enfant consultant pour des macules hypo- ou achromiques multiples. Une a...