Tuberous sclerosis physical examination: Difference between revisions
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====Skin | __NOTOC__ | ||
{{Tuberous sclerosis}} | |||
{{CMG}} | |||
==Physical Examination == | |||
===Skin=== | |||
[http://www.peir.net 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] | [http://www.peir.net 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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* [[Cafe-au-lait spots]] or flat brown marks | * [[Cafe-au-lait spots]] or flat brown marks | ||
* Poliosis | * 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 | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Genetic disorders]] | |||
[[Category:Disease]] | |||
[[Category:Neurology]] | |||
[[Category:Needs overview]] | |||
Revision as of 18:16, 27 February 2013
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Tuberous sclerosis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Tuberous sclerosis physical examination On the Web |
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American Roentgen Ray Society Images of Tuberous sclerosis physical examination |
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Risk calculators and risk factors for Tuberous sclerosis physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Physical Examination
Skin
-
Adenoma sebaceum.
-
Tuberous sclerosis; Subungual fibroma; Beneath the Left Index Nail
-
Tuberous sclerosis, Periungual Fibroma; Lateral Side of Left Great Toe Nail
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