Tuberous Sclerosis

 

 

Uploaded: 2007-11-17, Updated: 2007-11-17

 

CLINICAL FEATURES

 

GENETIC MUTATIONS

 
  • TSC1: chromosome 9q34; gene product, hamartina, may function as a tumor suppressor;

  • TSC2: more common, chromosome 16p13.3; gene product, tuberin,  with homology to a GTPase-activating protein.

DIAGNOSTIC FEATURES

 

Major features

 
 

Minor features

 
  • Multiple randomly distributed pits in dental enamel

  • Hamartomatous rectal polyps

  • Cysts: liver, kidneys, bone and pancreas

  • Cerebral white matter radial migration lines

  • Gingival fibromas

  • Nonrenal hamartoma

  • Retinal achromic patch

  • Confetti skin lesions

 

Diagnosis

 
  • Definite tuberous sclerosis complex is diagnosed by the presence of either 2 major features or 1 major feature plus 2 minor features.

  • Probable tuberous sclerosis complex is indicated by 1 major feature plus 1 minor feature.

  • Possible tuberous sclerosis complex is indicated by either 1 major feature or 2 or more minor features.

PATHOLOGY FINDINGS

 

Skin lesions (70-80% of cases)

 
 

Neurologic findings

 
 

Ocular findings

 
 

Findings in other organs

 

REFERENCES

 
  • Robbins & Cotran Pathologic Basis of Disease, 7th edition.

  • AFIP, tumor of the central nervous system, series 4.

  • www.emedicine.com/derm/topic438.htm.