Genetics

Question 1

What is this?

Answer 1

Periungual Fibromata

Question 2

What is this sign called?

Answer 2

Longitudinal ridging

Question 3

What is the diagnosis?

Answer 3

Tuberose Sclerosis

Question 4

What kinds of things do people with Tuberose Sclerosis get?

Answer 4

Infantile seizures

Ash leaf macules

Periungual fibromas

Facial angiofibromas

Hamartomas and bone cysts

Question 5

How is Tuberose Sclerosis passed on?

Answer 5

Autosomal Dominant

Question 6

What is the Diagnosis ?

Born at term, some skin loss noted on delivery

24 hrs later widespread blistering and skin loss which progressed to extensive skin loss with any movement or handling of the baby

Answer 6

Epidermolysis Bullosa

Question 7

What are the thee main types of Epidermolysis Bullosa?

Answer 7

Simplex ( Epidermis only)

Junctional (Dermo-epidermal Junction)

Dystrophic (Dermis)

Question 8

Whats the diagnosis ?

greater than 5 Cafe au lait macules

Axillary freckles

Answer 8

Neurofibromatosis type 1