Tuberous sclerosis Flashcards
1
Q
Presentation
A
Salmon coloured papules and nodules over face in a butterfly distribution - adenoma sebaceum
Periungal fibroma
Shagreen patches - thickened plaques on the lumbosacral region
Ash leaf macules- hypopigmented
Molloscum fibrosum pendulum - pedunculated nodules in the flexural areas/axilla
Cafe au lait spots
2
Q
Genetics
A
AD - chromosome 9 and 16
Uncontrolled cellular differentiation and hamartoma formation
3
Q
Multsystem involvement
A
Eyes - retinal hamartoma
Heart - cardiac rhabdomyoma
Brain - mental retardation, seizures
Lungs - cysts, pneumothoraces
Kidneys - renal hamartomas
Vascular - aneurysms
Abdomen - hamartomas of the GI tract
