Misc genetic conditions

Question 1

aetiology of vitiligo

Answer 1

autoimmune loss of melanocytes

Question 2

presentation of vitiligo

Answer 2

loss of melanocytes = black person with white patches on skin

Question 3

aetiology of albinism

Answer 3

genetic loss of pigment production

Question 4

presentation of albinism

Answer 4

fair skinned

Question 5

aetiology of nelsons syndrome

Answer 5

genetic problem/removal of adrenal glands due to cushings = causes pituitary to produce excess ACTH = stimulates melanin production

Question 6

presentation of nelsons syndrome

Answer 6

dark skin (either abnormally dark at birth, or increasing darkness after adrenal gland removal)

Question 7

what is an angioma

Answer 7

a benign tumour in blood vessels = problem with blood flow to the skin

Question 8

presentation of angioma

Answer 8

bleeding
purple rash on skin
strawberry navei in children
small blueish lesion

Question 9

treatment of angioma

Answer 9

self limiting

laser therapy

Question 10

aetiology of ichthyosis (scaling of skin)

Answer 10

x linked

steroid-sulphatase deficiency

Question 11

presentation of ichthyosis

Answer 11

fish scale skin
darker area than rest of skin

location - on extensor surfaces
(look at a pic)