An approach to the tuberous sclerosis complex
DOI:
https://doi.org/10.18203/2320-6012.ijrms20222544Keywords:
Tuberous sclerosis, Bourneville pringle, Epiloia, Hamartoma, AngiomyolipomaAbstract
Tuberous sclerosis is an autosomal dominant disorder with complete penetrance that is characterized by the formation of benign tumors in multiple organs, such as hamartomas in the skin, angiomyolipoma in the kidney, retina, heart, lungs and infratentorial brain tumors, conditioning alterations of neurological type, which condition repercussion on the quality of life of patients.
References
Brigo F, Lattanzi S, Trinka E, Nardone R, Bragazzi NL, Ruggieri M, et al. First descriptions of tuberous sclerosis by Désiré‐Magloire Bourneville (1840-1909). Neuropathology. 2018;38(6):577-82.
Rayer PFO. Traité Théorique et Pratique des Maladies de la Peau. 2nd ed. Paris: JB Baillière; 1835.
Recklinghausen F. Ein Herz von einem Neugeborene welches mehrere theils nach aussen, theils nach den Hohlen promimirende Tumoren (Myomen) trug. Monatschr Geburtsheilkd. 1862;20:1-2.
Bourneville DM. Contribution à l’étude de l’idiotie. Arch Neurol (Paris). 1880;1:69-90.
Pringle JJ. A case of congenital adenoma sebaceum. Br J Dermatol. 1890;2:1-14.
Vogt H. Zur Pathologie und pathologischen Anatomie der verschiedenen Idiotieformen. Monatsschr Psychiatr Neurol. 1908;4:106-50.
Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet. 2019;20:217-40.
Orlova KA, Crino PB. The tuberous sclerosis complex. Ann N Y Acad Sci. 2010;1184:87-105.
DiMario FJ, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am. 2015;62(3):633-48.
Ng KH, Ng SM, Parker A. Annual review of children with tuberous sclerosis. Arch Dis Child Educ Pract Ed. 2015;100(3):114-21.
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9(2):88-100.
Vries PJ, Wilde L, Vries MC, Moavero R, Pearson DA, Curatolo P. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018;178(3):309-20.
Hyman MH, Whittemore VH, National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000;57(5):662-5.
O’Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998;351(9114):1490.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, Vries PJ, Frost MD, et al. Updated International Tuberous Sclerosis Complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021;123:50-66.
Northrup H, Krueger DA. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013;49(4):243-54.
Fakhari D, Mann LL, Poryo M, Graf N, Kries RV, Heinrich B, et al. Incidence of tuberous sclerosisand age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis. 2018;13(1):117.
Uysal SP, Şahin M. Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci. 2020;50(2):1665-76.
Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MC. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018;93(3):323-31.
Sadowski K, Kotulska K, Schwartz RA, Jówiak S. Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review. J Eur Acad Dermatol Venereol. 2016;30(4):586-94.
Jacks SK, Witman PM. Tuberous sclerosis complex: an update for dermatologists. Pediatr Dermatol. 2015;32:563-70.
MacKeigan JP, Krueger DA. Differentiating the mTOR inhibitors everolimu and sirolimus in the treatment of tuberous sclerosis complex. Neuro Oncol. 2015;17:1550-9.
Dibble CC, Elis W, Menon S, Qin W, Klekota J. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Molecular Cell. 2012;47(4):535-46.
Mills JD, Iyer AM, Scheppingen J, Bongaarts A, Anink JJ, Janssen B, et al. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2017;7(1):8089.
Sampson JR. Therapeutic targeting of mTOR in tuberous sclerosis. Biochem Soc Trans. 2009;37(1):259-64.
Kim DH, Sarbassov DD, Ali SM, Latek RR, Guntur KV, Erdjument-Bromage H, et al. GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTOR. Mol Cell. 2003;11(4):895-904.
LoPiccolo J, Blumenthal GM, Bernstein WB, Dennis PA. Targeting the PI3K/Akt/mTOR pathway: effective combinations and clinical considerations. Drug Resist Updat. 2008;11(1-2):32-50.
Ebrahimi-Fakhari D, Meyer S, Vogt T, Pföhler C, Müller CSL. Dermatological manifestations of tuberous sclerosis complex (TSC). J Dtsch Dermatol Ges. 2017;15(7):695-700.
Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus G. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:243-54.
Teng JM, Cowen EW, Wataya-Kaneda M, Gosnell ES, Witman PM, Hebert AA, et al. Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements. JAMA Dermatol. 2014;150(10):1095-101.
Xia Y, Darling TN. Rapidly growing collagenomas in multiple endocrine neoplasia type I. J Am Acad Dermatol. 2007;56(5):877-80.
Wong M. The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex. J Neurodev Disord. 2019;11(1):30.
Schitine C, Nogaroli L, Costa MR, Hedin-Pereira C. Astrocyte heterogeneity in the brain: from development to disease. Front Cell Neurosci. 2015;9:76.
Sosunov AA, Wu X, McGovern RA, Coughlin DG, Mikell CB, Goodman RR, et al. The mTOR pathway is activated in glial cells in mesial temporal sclerosis. Epilepsia. 2012;53(1):78-86.
Zeng LH, Ouyang Y, Gazit V, Cirrito JR, Jansen LA, Ess KC, et al. Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex. Neurobiol Dis. 2007;28(2):184-96.
Schafer DP, Stevens B. Microglia function in central nervous system development and plasticity. Cold Spring Harb Perspect Biol. 2015;7:020545.
Boer K, Jansen F, Nellist M, Redeker S, van den Ouweland AM, Spliet WG, et al. Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex. Epilepsy Res. 2008;78(1):7-21.
Zhang B, Zou J, Han L, Rensing N, Wong M. Microglial activation during epileptogenesis in a mouse model of tuberous sclerosis complex. Epilepsia. 2016;57(8):1317-25.
Scholl T, Muhlebner A, Ricken G, Gruber V, Fabing A, Samueli S, et al. Impaired oligodendroglial turnover is associated with myelin pathology in focal cortical dysplasia and tuberous sclerosis complex. Brain Pathol. 2017;27(6):770-80.
Dimou L, Simons M. Diversity of oligodendrocytes and their progenitors. Curr Opin Neurobiol. 2017;47:73-9.
Hoz L, Simons M. The emerging functions of oligodendrocytes in regulating neuronal network behaviour. Bioessays. 2015;37(1):60-9.
Mizuguchi M, Ohsawa M, Kashii H, Sato A. Brain symptoms of tuberous sclerosis complex: Pathogenesis and treatment. Int J Mol Sci. 2021;22(13):6677.
Wataya-Kaneda M, Tanaka M, Hamasaki T, Katayama I. Trends in the prevalence of tuberous sclerosis complex manifestations:An epidemiological study of 166 Japanese patients. PLoS One. 2013;8(5):63910.
Curatolo P. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14(7):733-45.
Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013;381(9861):125-32.
Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E. Brain lesions in tuberous sclerosis complex. Review. Folia Neuropathol. 2010;48(3):139-49.
Baskin HJ. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol. 2008;38(9):936-52.
Isac VM, Silva MR, Beck AL, da Cruz PR, Carvalho ER, de Azevedo AE, Andrade JM. Renal angiomyolipoma with cardiac extension in patient with tuberous sclerosis complex. Circulation. 2011;124(23):e736-8.
Vega-Castro R, García-Vasquez RA, Arriaga-Aguilar J, López-Chente-Casado J, Avechuco-Carrillo ZG, Blas-Reina A, et al. Angiomiolipoma renal múltiple bilateral asociado a esclerosis tuberosa. Reporte de caso y revisión de la literatura. Rev Mex Urol. 2014.
Garcia-Rojo D, Prera A, Abad C, Golan G, Bensaid P, Kitrey ND, et al. Renal angiomyolipoma. Relationships between tumour size and clinical features. A long-term follow-up. Eur Urol. 2009;55(5):1155-61.
O’Callaghan FJ, Noakes MJ, Martyn CN, Osborne JP. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 2004;94(6):853-7.
Lince R, Gómez C, Arteaga A, Montoya JH, Vásquez LM. Cardiac rhabdomyoma as manifestation of tuberous sclerosis. Presentation of two cases and literature review. Rev Colom Cardiol. 2009;16(5):5.
Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCM. Tuberous sclerosis complex: review based on new diagnostic criteria Anais Brasileiros de Dermatologia. 2018;93(3):32-31.
Rodrigues DA, Gomes CM, Costa, IM. Tuberous sclerosis complex Esclerose tuberosa. An Bras Dermatol. 2012;87(2).
Bouwmeester S, Hellemond IEG, Vlaar PJ, Post JC. (2021). Clinical Picture Cardiac findings in tuberous sclerosis complex. Clin Picture. 2021;398(10307):1256.
AlKindi HN, Ibrahim AM, Roshdy M, Abdelghany BS, Yehia D, Masoud AN, et al. Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis. Cardiol Young. 2021;31(8),1297-305.
Stuart C, Fladrowski C, Flinn J, Öberg B, Peron A, Rozenberg M, et al. Beyond the guidelines: how we can improve healthcare for people with tuberous sclerosis complex around the world. Pediatr Neurol. 2021;123:77-84.
Ebrahimi-Fakhari D, Stires G, Hahn E, Krueger D, Franz DN. Prenatal sirolimus treatment for rhabdomyomas in tuberous sclerosis. Pediatr Neurol. 2021;125:26-31.
Campo A, Martínez A, Candelaria P. Esclerosis Tuberosa identificada mediante evaluación oftalmológica. Rev Ciencias Médicas. 2018; 22(5):981-6.
Wan MJ, Chan KL, Jastrzembski BG, Ali A. Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives. Eye Brain. 2019;11:13-23.
Albakr A, Hamad MH, Alwadei AH, Bashiri FA, Hassan HH, Idris H, et al. Idiopathic intracranial hypertension in children: diagnostic and management approach. Sudan J Paediatr. 2016;16(2):67-76.
Sabat SB, Cure J, Sullivan J, Gujrathi R. Tuberous sclerosis with multiple intracranial aneurysms: atypical tuberous sclerosis diagnosed in adult due to third nerve palsy. Acta Neurol Belg. 2010;110(1):89-92.
Yi JL, Galgano MA, Tovar-Spinoza Z, Deshaies EM. Coil embolization of an intracranial aneurysm in an infant with tuberous sclerosis complex: a case report and literature review. Surg Neurol Int. 2012;3:129.
