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Tuberous Sclerosis (Examination (Skin (Ash-leaf macule: hypopigmented…
Tuberous Sclerosis
Examination
Skin
Facial adenoma sebaceum: perinasal angiofibromata
Periungual fibromas: hands and feet
Shagreen-patch: roughened leathery skin over sacrum
Ash-leaf macule: hypopigmented macule on trunk
Fluoresce w/ UV/Wood’s lamp
Café-au-lait spots
Extras
Fundus: retinal phakomas (dense white patches)
Lungs: cystic lung disease
Abdomen
Renal enlargement secondary to cysts
Transplanted kidney
Signs of phenytoin use (80% are epileptic)
Gingival hypertrophy
Hisutism
Viva
Epidemiology
Autosomal dominant
Chr 16
Ix
Skull films: railroad track calcification
CT/MRI brain: tuberous masses in cortex
Abdo US: renal cysts
Echo: cardiomyopathy