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

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  Adenoma sebaceum.

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  Tuberous sclerosis; Subungual fibroma; Beneath the Left Index Nail

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  Tuberous sclerosis, Periungual Fibroma; Lateral Side of Left Great Toe Nail

Face

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

Extremities

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

Trunk

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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  Tuberous sclerosis. Adapted from Dermatology Atlas.

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
  • Coloboma
  • Angiofibromas of the eyelids
  • Papilledema (related to hydrocephalus)

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