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Contributor: James G. Smirniotopoulos, M.D. - Uniformed Services University
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More Like This ? Tuberous Sclerosis
Factoid 754 - Created: 1999-10-26 08:23:08-04 - Modified: 2007-03-19 12:57:31-04
ACR Codes: 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)

More about AML:
http://www.rsna.org/REG/publications/rg/afip/privateM/1997/0017/0001/0155/1.htm#topAnchor
Reference(s):
; Accepted by jsmirnio
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Prepared by: James G. Smirniotopoulos, M.D.
Affiliation: Uniformed Services University - || - Author Profile
Approved by: James G. Smirniotopoulos, M.D.
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