Tuberous sclerosis physical examination: Difference between revisions

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Latest revision as of 17:56, 23 June 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2] José Eduardo Riceto Loyola Junior, M.D.[3]

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

Adenoma sebaceum.
Tuberous sclerosis; Subungual fibroma; Beneath the Left Index Nail
Tuberous sclerosis, Periungual Fibroma; Lateral Side of Left Great Toe Nail

Skin

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, which may cause blindness.
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

References

↑ ^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".

[Dermatology_Atlas-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".

[1]

@@ Line 1: / Line 1: @@
-====Skin====
+__NOTOC__
+{{Tuberous sclerosis}}
+{{CMG}}; {{AE}} {{KS}} {{Jose}}
+==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]
@@ Line 10: / Line 16: @@
 </div>
+====Face====
+<gallery>
+Image:Tuberous sclerosis01.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis02.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis03.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis04.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis05.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis06.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis07.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis08.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis09.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis10.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis11.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis14.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis15.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis16.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis20.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis21.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis22.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis23.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis24.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis25.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis26.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis27.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis28.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis29.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis30.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis32.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis33.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis34.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis35.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis36.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis37.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis38.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis39.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+</gallery>
+====Nails====
+<gallery>Image:Tuberous sclerosis31.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis18.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+</gallery>
+====Trunk====
+<gallery>
+Image:Tuberous sclerosis40.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis41.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis12.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis13.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+Image:Tuberous sclerosis17.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+</gallery>
+====Oral cavity====
+<gallery>
+Image:Tuberous sclerosis19.jpg|Tuberous sclerosis. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
+</gallery>
+=== Skin ===
 The skin is examined under a [[Wood's lamp]].  The most common skin abnormalities include:
-* Facial angiofibromas
+* Facial [[Angiofibroma|angiofibromas]]
 * Ungual or subungual fibromas
 * Hypomelanic [[macules]] ("ash leaf spots")
@@ Line 18: / Line 119: @@
 * Molluscum fibrosum or skin tags
 * [[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]], which may cause [[blindness]].
+* Non-retinal lesions associated with [[TSC]] include
+**[[Coloboma]]
+**[[Angiofibromas]] of the eyelids
+**[[Papilledema]] (related to hydrocephalus)
+===Heart===
+* A heart [[Heart murmur|murmur]] can be heard due to the obstruction of blood flow by [[rhabdomyomas]].
+===Lungs===
+* Coarse [[Rales/Crackles|rales]] are heard when lung [[Parenchymal|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]]
+==References==
+{{Reflist|2}}
+[[Category:Genetic disorders]]
+[[Category:Disease]]
+[[Category:Neurology]]
+[[Category:Needs overview]]

Tuberous sclerosis physical examination: Difference between revisions

Latest revision as of 17:56, 23 June 2020

Physical Examination

Skin

Face

Nails

Trunk

Oral cavity

Skin

Head

Eyes

Heart

Lungs

Extremities

Neurologic

References

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