Results 11 to 20 of about 358,265 (351)
Vestnik Dermatologii i Venerologii, 2018 Aetiology, pathogenesis, clinical and patomorphological criteria for diagnosis of tuberous sclerosis diagnosis are described in this paper. Clinical case of long undiagnosed tuberous sclerosis is presented.
K. N. Monahov +6 more
doaj +3 more sources
Journal of the Royal Society of Medicine, 1991 Tuberous sclerosis (epiloia, Bourneville-Pringle syndrome) is an inherited disease with an autosomal pattern. Both sexes are affected equally with varied expression in successive generations. Two cases of this unusual disorder in siblings are reported. They illustrate heredofamilial nature, dissimilar expression, mutations, and oral manifestations.
H H, Tillman, F, De Caro
+8 more sources
Dermatology Online Journal, 2008 A 46-year-old woman presented with multiple, skin-colored, hyperpigmented, dome-shaped facial papules. Histopathologic examination was consistent with angiofibromas. Clinical history and examination were consistent with tuberous sclerosis. The clinical manifestations, pathogenesis, evaluation, and treatment of tuberous sclerosis are discussed.
Frank Gaillard
openalex +5 more sources
Epilepsia, 2021 To evaluate the long‐term safety and efficacy of add‐on cannabidiol (CBD) in patients with seizures associated with tuberous sclerosis complex (TSC) in the open‐label extension (OLE) of the randomized, placebo‐controlled phase 3 trial GWPCARE6 ...
E. Thiele +7 more
semanticscholar +1 more source
Onychopapilloma and Ungual Fibroma Revealing Late-Diagnosed Tuberous Sclerosis [PDF]
Balkan Med JBurç Dağtaş B, Leblebici C.
europepmc +2 more sources
BMC Neurology, 2021 Background Subependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently available for treating SEGA: surgical resection or pharmacotherapy using mammalian target of rapamycin ...
Kyoichi Tomoto +12 more
doaj +1 more source
Renal Cell Carcinoma in Tuberous Sclerosis Complex
Genes, 2021 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which renal manifestations are prominent. There are three major renal lesions in TSC: angiomyolipomas, cysts, and renal cell carcinoma (RCC).
E. Henske, K. Cornejo, Chin-Lee Wu
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Tuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders, resulting in a high burden of illness for individuals and a substantial impact on their caregivers.
Hanna Skrobanski +7 more
doaj +1 more source
Annals of Neurology, 2021 Tuberous sclerosis complex (TSC) is highly associated with autism spectrum disorder (ASD). Objectives of the study were to characterize autistic features in young children with TSC.
Jamie K. Capal +12 more
semanticscholar +1 more source
Tuberous sclerosis complex for the pulmonologist
European Respiratory Review, 2021 Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either the TSC1 or TSC2 gene leading to ...
Yasmine Rebaine +4 more
semanticscholar +1 more source