Autosomal dominant disorder with multiorgan hamartomas
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
Angiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Salussolia CL et al: Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet. 20:217-40, 2019
Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
Henske EP et al: Tuberous sclerosis complex. Nat Rev Dis Primers. 2:16035, 2016
Strowd RE et al: Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings. Semin Oncol. 43(3):401-7, 2016
DiMario FJ Jr et al: Tuberous sclerosis complex. Pediatr Clin North Am. 62(3):633-48, 2015
Li P et al: Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex. Am J Med Genet A. 167A(11):2755-7, 2015
Lew PP et al: Imaging of disorders affecting the bone and skin. Radiographics. 34(1):197-216, 2014
Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
Avila NA et al: CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 254(3):851-7, 2010
Ess KC: Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 23(2):189-93, 2010
Orlova KA et al: The tuberous sclerosis complex. Ann N Y Acad Sci. 1184:87-105, 2010
Salerno AE et al: Vascular involvement in tuberous sclerosis. Pediatr Nephrol. 25(8):1555-61, 2010
Lin DD et al: Neuroimaging of phakomatoses. Semin Pediatr Neurol. 13(1):48-62, 2006
Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report-part I. Spine (Phila Pa 1976). 30(7):844, 2005
Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report--part II. Spine (Phila Pa 1976). 30(8):992-3, 2005
Erbay SH et al: Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis. AJNR Am J Neuroradiol. 25(1):36-8, 2004
Gasparetto EL et al: Tuberous sclerosis and fibrous dysplasia. AJNR Am J Neuroradiol. 24(5):835-7, 2003
Borman P et al: Osteopoikilosis: report of a clinical case and review of the literature. Joint Bone Spine. 69(2):230-3, 2002
Jonard P et al: Tc-99m HDP bone scan showing bone changes in a case of tuberous sclerosis or Bourneville's disease. Clin Nucl Med. 26(1):50-2, 2001
Roach ES et al: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 14(6):401-7, 1999
Roach ES et al: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 13(12):624-8, 1998
Autosomal dominant disorder with multiorgan hamartomas
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
Angiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Salussolia CL et al: Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex. Annu Rev Genomics Hum Genet. 20:217-40, 2019
Randle SC: Tuberous sclerosis complex: a review. Pediatr Ann. 46(4):e166-71, 2017
Henske EP et al: Tuberous sclerosis complex. Nat Rev Dis Primers. 2:16035, 2016
Strowd RE et al: Cutaneous manifestations in neuro-oncology: clinically relevant tumor and treatment associated dermatologic findings. Semin Oncol. 43(3):401-7, 2016
DiMario FJ Jr et al: Tuberous sclerosis complex. Pediatr Clin North Am. 62(3):633-48, 2015
Li P et al: Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex. Am J Med Genet A. 167A(11):2755-7, 2015
Lew PP et al: Imaging of disorders affecting the bone and skin. Radiographics. 34(1):197-216, 2014
Krueger DA et al: Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):255-65, 2013
Northrup H et al: Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 49(4):243-54, 2013
Avila NA et al: CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis. Radiology. 254(3):851-7, 2010
Ess KC: Tuberous sclerosis complex: a brave new world? Curr Opin Neurol. 23(2):189-93, 2010
Orlova KA et al: The tuberous sclerosis complex. Ann N Y Acad Sci. 1184:87-105, 2010
Salerno AE et al: Vascular involvement in tuberous sclerosis. Pediatr Nephrol. 25(8):1555-61, 2010
Lin DD et al: Neuroimaging of phakomatoses. Semin Pediatr Neurol. 13(1):48-62, 2006
Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report-part I. Spine (Phila Pa 1976). 30(7):844, 2005
Stosic-Opincal T et al: Spine MRI findings in a patient with tuberous sclerosis: a case report--part II. Spine (Phila Pa 1976). 30(8):992-3, 2005
Erbay SH et al: Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis. AJNR Am J Neuroradiol. 25(1):36-8, 2004
Gasparetto EL et al: Tuberous sclerosis and fibrous dysplasia. AJNR Am J Neuroradiol. 24(5):835-7, 2003
Borman P et al: Osteopoikilosis: report of a clinical case and review of the literature. Joint Bone Spine. 69(2):230-3, 2002
Jonard P et al: Tc-99m HDP bone scan showing bone changes in a case of tuberous sclerosis or Bourneville's disease. Clin Nucl Med. 26(1):50-2, 2001
Roach ES et al: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol. 14(6):401-7, 1999
Roach ES et al: Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 13(12):624-8, 1998
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