Tuberous Sclerosis, MedPix™ : 754 - Medical Image Database and Atlas

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Tuberous Sclerosis
Topic 754 - Created: 1999-10-26 08:23:08-04 - Modified: 2007-03-19 12:57:31-04

ACR Index: 1.6

Tuberous Sclerosis is an autosomal dominant disorder producing systemic lesions. Two genes are associated: TSC1 (9q) and TSC2 (16p). TSC1 codes for a protein "hamartin" of 130 kD, expressed in brain, kidney and heart. TSC2 codes for "tuberin".

The most commonly affected organ systems include:
Skin - angiofibroma, ash leaf macule
Brain - cortical tubers, subependymal nodules
Kidney - angiomyolipoma, cysts, rarely renal cell Ca
Bone - bone islands, cystic lucencies
Heart - rhabdomyoma
Lung - lymphangioleiomyomatosis

Remember PRINGLE's Snack can:
Mild (inconstant) mental retardation
Facial angiofibroma (Pringle's Rash)
Seizures (shake the can)
Tubers (hard potatoes ground into potato flour)

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Tuberous Sclerosis. Angiomyolipoma.

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Tuberous Sclerosis Subependymal gian ...

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Subependymal giant cell astrocytoma.

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Subependymal giant cell astrocytoma

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Tuberous Sclerosis, Lung

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Cardiac Rhabdomyoma

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Subependymal nodule

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Bone islands in Tuberous Sclerosis

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Title: Tuberous Sclerosis ::

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Location: Generalized	Sublocation: none selected	Category: Congenital, genetic
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