Tuberous sclerosis physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2]

Physical Examination

Skin

Images of the nail shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

Face

Nails

Trunk

Oral cavity

The skin is examined under a Wood's lamp. The most common skin abnormalities include:

  • Facial angiofibromas
  • Ungual or subungual fibromas
  • Hypomelanic macules ("ash leaf spots")
  • Forehead plaques
  • Shagreen patches
  • Molluscum fibrosum or skin tags
  • Cafe-au-lait spots or flat brown marks
  • Poliosis

Head

  • Pitted tooth enamel
  • Rubbery growths on the tongue or gums

Eyes

  • Retinal lesions - astrocytic hamartomas
  • Non-retinal lesions associated with TSC include

Heart

  • A heart murmur can be heard due to the obstruction of blood flow by rhabdomyomas.

Lungs

  • Coarse rales are heard when lung parenchyma is involved.
  • Bronchial breathing and bronchophony are heard on auscultation when multiple cysts occur in the lungs.

Extremities

  • Rough growths under or around the fingernails and toenails

Neurologic

  • Abnormal size of head in children - due to hydrocephalus
  • Low IQ
  • Learning difficulties
  • Intellectual disability
  • Troubled communication and social interaction

References

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 1.18 1.19 1.20 1.21 1.22 1.23 1.24 1.25 1.26 1.27 1.28 1.29 1.30 1.31 1.32 1.33 1.34 1.35 1.36 1.37 1.38 1.39 1.40 "Dermatology Atlas".

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