Tuberous Sclerosis

Question 1

what is it?

Answer 1

a common genodermatose [genetic skin disease] (though rare in general) which causes benign tumours to develop in different parts of the body

Question 2

what causes it?

Answer 2

autosomal dominant

new ‘de novo’ mutations are common though

Question 3

how does it present?

Answer 3

infantile seizures (especially if No high temperature as high temp is most common reason for infant seizure)

earliest cutaneous sign = ash-leaf macule
angiofibromas start developing in the first few years of life
shagreen patches
enamel pitting on teeth
longitudinal ridging on nails

Question 4

tumours associated with TS

Answer 4

Periungal fibromas [around the nail]
Facial angiofibromas [adenoma sebaceum]
Hamartomas [tissue is normal but there’s too much of it, e.g. angiomyolipomas]
Bone cysts
Cortical tubers and/or calcification of falx cerebri may cause epilepsy/seizures/mental impairment

Question 5

How is it diagnosed?

Answer 5

ash leaf macules (and other depigmented macules) - detected with a Wood’s lamp
(UV light which makes white things more white)
bone cysts can be seen on x-ray

Question 6

how is it treated?

Answer 6

topical rapamycin

Question 7

what is the genetic inheritance?

Answer 7

can be from different genes - genetic heterogeneity 
mendelian disorder (mutation in a single gene can cause it)