Difference between revisions of "Tuberous sclerosis"

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Mnemonic '''SALSA HEART''':<ref>URL: [http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html]. Accessed on: 20 October 2011.</ref>
Mnemonic '''SALSA HEART''':<ref>URL: [http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html]. Accessed on: 20 October 2011.</ref>
*'''S'''hagreen patches.
*'''S'''hagreen patches.
**''Connective-tissue nevi'' composed on collagen (collagenoma).<ref>URL: [http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html]. Accessed on: 18 February 2012.</ref>
**Shagreen patch = ''connective-tissue nevus'' composed of collagen, i.e. ''collagenoma''.<ref>URL: [http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html]. Accessed on: 18 February 2012.</ref>
*'''A'''sh '''L'''eaf spots.
*'''A'''sh '''L'''eaf spots.
*'''S'''EGA.
*'''S'''EGA.

Revision as of 21:13, 18 February 2012

Tuberous sclerosis, also tuberous sclerosis complex - abbreviated TSC, is genetic thingy associated with increased risk of hamartomas.

Historically described as:[1]

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

Associations

Pathologic:

Note:

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

Mnemonic SALSA HEART:[3]

  • Shagreen patches.
    • Shagreen patch = connective-tissue nevus composed of collagen, i.e. collagenoma.[4]
  • Ash Leaf spots.
  • SEGA.
  • Angiofibroma.
  • Hamartomas.
  • Epilepsy.
  • Angiomyolipoma.
  • Rhabdomyoma.
  • Tubers.

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. 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.
  3. URL: http://www.usmle-forums.com/usmle-step-1-mnemonics/303-tuberous-sclerosis.html. Accessed on: 20 October 2011.
  4. URL: http://dermatology-s10.cdlib.org/1611/articles/3_2009-11-17/batra.html. Accessed on: 18 February 2012.
  5. Online 'Mendelian Inheritance in Man' (OMIM) 605284
  6. Online 'Mendelian Inheritance in Man' (OMIM) 191092