Tuberous sclerosis history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]

History and Symptoms


Symptoms develop in almost all patients with TSC and include:[1]

  • Ungual fibromas;
  • Facial angiofibromas (may demand treatment and may worsen with UV exposure);
  • Shagreen patches (oval-shaped lesions, generally skin-colored but can be sometimes pigmented, may be crinkled or smooth);
  • Hocal hypopigmented macules (ash-leaf spots);
  • Dental enamel pits (present in 100% of the patients);
  • Oral fibromas;


  • Retinal astrocytic hamartomas (tumors of the retinal nerve);
  • Retinal achromic patches (light or dark spots on the eye).[1]




These manifestations are one of the major causes of morbidity in patients with TSC.


Rhabdomyomas may be present, being intramural or intracavitary in its distribution along the myocardium. May be detected in utero on fetuses and is associated with cardiac failure. Often disappear spontaneously in later life.[1] 80% of children under two-years-old with TSC have at least one rhabdomyoma, and about 90% of those will have several.[6]



  1. 1.0 1.1 1.2 1.3 1.4 1.5 Henske, Elizabeth P., et al. "Tuberous sclerosis complex." Nature reviews Disease primers 2.1 (2016): 1-18.
  2. 2.0 2.1 2.2 Crino PB, Nathanson KL, Henske EP (September 2006). "The tuberous sclerosis complex". The New England Journal of Medicine. 355 (13): 1345–56. doi:10.1056/NEJMra055323. PMID 17005952.
  3. Song, Xue, et al. "Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma." Current medical research and opinion 33.7 (2017): 1277-1282.
  4. Henske EP (December 2003). "Metastasis of benign tumor cells in tuberous sclerosis complex". Genes, Chromosomes & Cancer. 38 (4): 376–81. doi:10.1002/gcc.10252. PMID 14566858.
  5. Gupta, Ajay, et al. "Epilepsy and neurodevelopmental comorbidities in tuberous sclerosis complex: a natural history study." Pediatric Neurology (2020).
  6. Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (November 2014). "Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group". Journal of the American Heart Association. 3 (6): e001493. doi:10.1161/JAHA.114.001493. PMC 4338742. PMID 25424575.
Tuberous sclerosis skin lesion - Angiofibromas - image taken from:
Tuberous sclerosis skin lesion - Ash-leaf spot - image taken from:
Tuberous sclerosis skin lesion - Ungual fibroma - image taken from: