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Tuberous Sclerosis

Smirniotopoulos, M.D. JGSM - MedPix (1999)

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Affiliation: Uniformed Services University

ABSTRACT

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

No MeSH data available.


Lymphangiomyomatosis in Tuberous Sclerosis. Lung, close-up gross photograph.
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Related In: Results  -  Collection

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MPX2653_synpic278: Lymphangiomyomatosis in Tuberous Sclerosis. Lung, close-up gross photograph.


Tuberous Sclerosis

Smirniotopoulos, M.D. JGSM - MedPix (1999)

Lymphangiomyomatosis in Tuberous Sclerosis. Lung, close-up gross photograph.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX2653&req=5

MPX2653_synpic278: Lymphangiomyomatosis in Tuberous Sclerosis. Lung, close-up gross photograph.

View Article: MedPix Image - MedPix Topic

Affiliation: Uniformed Services University

ABSTRACT

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

No MeSH data available.