Clinical manifestations of tuberous sclerosis complex

Yıl 2013, Cilt: 18 Sayı: 2, 52 - 57, 03.07.2013

Ahmet Engin Atay Halit Akbas Nafi Sakar Semir Pasa Seyhmus Ari Nazim Ekin

Öz

Abstract: Tuberous sclerosiscomplex (TSC) is an autosomal dominant syndrome or in sporadic formcharacterized by hamartamatous lesions in multiple organs. It affects severalsites such as skin, kidney, lung, heart, central nervous system and liver indiferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13,TSC2 gene). TSC1 and TSC2genes encode proteins called tuberin and hamartin; respectively. Although thepathogenetic mechanism is exactly unknown, a possible mechanism is aGTPase-activating protein against Rheb (Ras homolog enriched in brain),which  regulates mTOR (mammalian targetof rapamycin) signaling. The mammalian target of rapamycin (mTOR), is aserine-threonine kinase that increases cell proliferation and growth. We aimedto review the clinical manifestations and their predictive role on the course of disease.Keywords: Tuberous Sclerosis, autosomal dominant

Anahtar Kelimeler

Tuberous Sclerosis, autosomal dominant

Kaynakça

• 1. Siroky BJ, Yin H, Bissler JJ. Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease. Pediatr Nephrol 2010; 467: 1689-1695.
• 2. Araujo LJ, Lima LS, Alveranga TM, et al. Oral and neurocutaneous phenotypes of familial tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011; 111: 87-94.
• 3. Bourneville DM. Sclerose tubereuse des circonvolutions cerebrales: idiotie et cpilcpsic hemiplegique. Arch Neurol 1880; 1: 81-91.
• 4. Borkowska J, Schwartz RA, Kotulska K, Jozwiak S. Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol 2011; 50: 13-20.
• 5. Curatolo P. Tuberous Sclerosis Complex from Basic Science to Clinic Phenotypes. London, Mac Keith Pres. 2003.
• 6. Roach ES, Gomez MR, Northrup H. Tuberous Sclerosis Consensus Conference. revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624- 628.
• 7. Bradley P, Dixon John C, Hulbert John J. Bissler Tuberous Sclerosis Complex Renal Disease. Nephron Exp Nephrol 2011; 11: 15-20.
• 8. Henske EP. Tuberous sclerosis and the kidney. From mesenchyme to epiyhelium and beyond. Pediatr Nephrol 2005; 20: 854-857.
• 9. Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 2005; 14: 251-258.
• 10. Saito K, Fujii Y, Kasahara I, et al. Malignant clear cell ‘sugar’ tumor of the kidney: clear cell variant of epithelioid angiomyolipoma. J Urol 2002; 168: 2533-2534.
• 11. Carvalho-Neto A, Bruck I, Antoniuk SA, Marchiori E, Gasparetto EL. Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex. Arq Neuropsiquiatr 2008; 66: 303-307.
• 12. Mizuguchi M, Takashima S. Ncuropathology of tuberous sclerosis. Brain Dev 2001; 23: 508-515.
• 13. Curatolo P, Seri S, Verdecchia M, Bombardieri R. Infantile spasms in tuberous sclerosis complex. Brain Dev 2001; 23: 502-507.
• 14. Boer K, Jansen F, Nellist M, et al. Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex. Epilepsy Res 2008; 78: 7-21.
• 15. Grajkowska W, Kotulska K, Jurkiewicz E, Matyja E. Brain lesions in tuberous sclerosis complex. Review Folia Neuropathol 2010; 48: 139-149.
• 16. Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 2008; 38: 936-952.
• 17. Khanna PC, Godinho S, Pungavkar SA, Patkar DP. Ultrafast MRI in the prenatal diagnosis of Bourneville’s tuberous sclerosis. Neurol India 2005; 53: 349-350.
• 18. Gallagher A, Madan N, Stemmer-Rachamimov A, Thiele EA. Progressive calcified tuber in a young male with tuberous sclerosis complex. Dev Med Child Neurol 2010; 52: 1062-1065.
• 19. Jozwiak S, Migone N, Ruggieri M. The tuberous sclerosis complex. Phakomatoses and hamartoneoplastic syndromes. In: Ruggieri M, Pascual Castroviejo I, Di Rocco C, eds. Neurocutaneous Disorders. Vienna: Springer 2008: 181-227.
• 20. Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics and management. J Am Acad Dermatol 2007; 57: 189-202.
• 21. Curatolo P, Cusmai R, Cortesi F, et al. Neuropsychiatric aspects of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 8-16.
• 22. Raznahan A, Higgins NP, Griffiths PD, et al. Biological markers of intellectual disability in tuberous sclerosis. Psychol Med 2007; 37: 1293- 1304.
• 23. Tierney KM, McCartney DL, Serfontein JR, de Vries PJ. Neuropsychological Attention Skills and Related Behaviours in Adults with Tuberous Sclerosis Complex. Behav Genet 2010; 10: 9423- 9424.
• 24. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006; 355: 1345-1356.
• 25. Truchuelo T, Diaz-Ley B, Rios L, Alcantara J, Jaen P. Facial angiofibromas treated with topical rapamycin: An excellent choice with fast response. Dermatology Online Journal 2012; 18: 15-17.
• 26. Gomes AAR, Gomes YVR, Lima FB, Pessoa SGP. Multiple facial angiofibromas treated with highfrequency equipment. An Bras Dermatol 2011; 86: 186-189.
• 27. Rodrigues DA, Gomes CM, Costa IM. Tuberous sclerosis complex. An Bras Dermatol 2012; 87: 184-196.
• 28. Curatolo P, Bombardieri R, Jozwiak S. Tuberous Sclerosis. Lancet 2008; 372: 657-668.
• 29. Hofbauer GF, Marcollo-Pini A, Corsenca A, et al. The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol 2008; 159: 473-475.
• 30. Rai S, Kalakoti P, Syed MA, et al. An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report. J Med Case Rep 2011; 5: 267.
• 31. Torrelo A, Hadj-Rabia S, Colmenero I, et al. Folliculocystic and collagen hamartoma of tuberous sclerosis complex. J Am Acad Dermatol 2012; 66: 617-621.
• 32. Swaroop MR, Nischal KC, Rajesh Gowda CM, et al. Radiofrequency ablation of adenoma sebaceum. J Cutan Aesthet Surg 2008; 1: 89-91.
• 33. de Chadarevian JP, Legido A, Miles DK, Katsetos CD. Epilepsy, atherosclerosis, myocardial infarction, and carbamazepine. J Child Neurol 2003; 18: 150-151.
• 34. Patel U, Simpson E, Kingswood JC, Saggar-Malik AK. Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol 2005; 60: 665-673.
• 35. Adler J, Greweldinger J, Litzky G. "Macro" aneurysm in renal angiomyolipoma: two cases, with therapeutic embolization in one patient. Urol Radiol 1984; 6: 201-203.
• 36. Washecka R, Hanna M. Malignant renal tumors in tuberous sclerosis. Urology 1991; 37: 340-343. 37. Yates JRW. Tuberous sclerosis. Eur J Hum Genet 2006; 14: 1065-1073.
• 38. Franz DN, Brody A, Meyer C, et al. Mutational and radiographie analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneuniocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001; 164: 661-668.
• 39. Zhang X, Travis WD. Pulmonary Lymphangiomyomatosis. Arch Pathol Lab Med 2010; 134: 1823-1828.
• 40. Franz DN, Bissler JJ, McCormack FX. Tuberous Sclerosis Complex: Neurological, Renal and Pulmonary Manifestations. Neuropediatrics 2010; 41: 199-208.
• 41. Schiavina M, Di Scioscio V, Contini P, et al. Pulmonary lymphangioleiomyomatosis in a karyotypically normal man without tuberous sclerosis complex. Am J Respir Crit Care Med 2007; 176: 96-98.
• 42. Paramés F, Freitas I, Martins JD, et al. Cardiac tumors: the 17-year experience of pediatric cardiology department. Rev Port Cardiol 2009; 28: 929-940.
• 43. Ljungberg MC, Sunnen CN, Lugo JN, Anderson AE, D'Arcangelo G. Rapamycin suppresses seizures and neuronal hyphertrophy in a mouse model of cortical dysplasia. Dis Model Mech 2009; 2: 389-398.
• 44. Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006; 59: 490-498.
• 45. Lam C, Bouffet E, Tabori U, et al. Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. Pediatr Blood Cancer 2010; 54: 476-479.
• 46. Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.N Engl J Med 2008; 358: 140-151.
• 47. Wienecke R, Fackler I, Linsenmaier U, et al. Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex. Am J Kidney Dis 2006; 48: 27-29.