Tuberous sclerosis

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Tuberous sclerosis, also tuberous sclerosis complex (abbreviated TSC), is an autosomal dominant syndrome associated with an increased risk of hamartomas.

Historically described as:[1]

  1. Epilepsy.
  2. Mental retardation.
  3. Adenoma sebaceum (angiofibromas).

General

  • Autosomal dominant with variable penetrance.[2]
  • Majority (60-70%) are de novo mutations.[2]

Associations

Pathologic:

Note:

  • The same genes (TSC1, TSC2) are implicated in PEComas.

Mnemonic SALSA HEART:[4]

Genes

Incidence

~1 in 10,000 population.[1]

See also

References

  1. 1.0 1.1 URL: http://emedicine.medscape.com/article/1177711-overview. Accessed on: 13 February 2011.
  2. 2.0 2.1 2.2 2.3 2.4 Guo, J.; Tretiakova, MS.; Troxell, ML.; Osunkoya, AO.; Fadare, O.; Sangoi, AR.; Shen, SS.; Lopez-Beltran, A. et al. (Nov 2014). "Tuberous Sclerosis-associated Renal Cell Carcinoma: A Clinicopathologic Study of 57 Separate Carcinomas in 18 Patients.". Am J Surg Pathol 38 (11): 1457-67. doi:10.1097/PAS.0000000000000248. PMID 25093518.
  3. Grajkowska, W.; Kotulska, K.; Jurkiewicz, E.; Roszkowski, M.; Daszkiewicz, P.; Jóźwiak, S.; Matyja, E. (2011). "Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas.". Folia Neuropathol 49 (1): 39-46. PMID 21455842.
  4. URL: http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html. Accessed on: 20 October 2011.
  5. URL: http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html. Accessed on: 18 February 2012.
  6. Online 'Mendelian Inheritance in Man' (OMIM) 605284
  7. Online 'Mendelian Inheritance in Man' (OMIM) 191092