Genetics and Skin Disease

Question 1

what is a genodermatosis

Answer 1

inherited skin condition

Question 2

tuberous sclerosis

Answer 2

benign tumours grow in brain and other organs

Question 3

TS - brain CF

Answer 3

cortical tubers/calcification of falx cerebri

may present as infantile seizures, intellectual disability

Question 4

TS inheritance

Answer 4

Au D

Question 5

TS CF nails

Answer 5

periungual fibromata and longitudinal ridging

Question 6

TC CF cutaenous

Answer 6

ash leaf macule - depigmented macule

Question 7

how can ash leaf macules be seen better

Answer 7

under woods lamp

Question 8

TS CF

Answer 8

bone cyst

facial angiofibroma

shagreen patches

Question 9

TS CF teeth

Answer 9

enamel pitting

Question 10

what do shagreen patches occur in

Answer 10

tuberous sclerosis

Question 11

what happens to sperm the older the father is

Answer 11

the more mutations they acquire

Question 12

TS - mutation in which genes

Answer 12

TSC1 or TSC2 (heterogeneity and exhibit mendelian inheritance)

Question 13

what type of inheritance does TS exhibit

Answer 13

mendelian

Question 14

what chromosome does TSC1 code to

Answer 14

9q34 - tuberin

Question 15

what chromosome does TSC2 code to

Answer 15

16p13.3 (hamartin)

Question 16

what is the penetrance like in TS

Answer 16

variable but high - some people dont show features of the disease

Question 17

what genetic deficiency causes seizures through the same pathway as TS and what can t be treated with

Answer 17

STRADA deficiency treated with mTOR inhibitors

Question 18

Epidermolysis Bullosa

Answer 18

group of different skin fragility conditions, with varying severity

Question 19

Epidermolysis Bullosa does blistering at birth determine prognosis

Answer 19

no

Question 20

Epidermolysis Bullosa how is it classified

Answer 20

by where the skin splits - junctional, simplex and dystrophic

Question 21

simplex Epidermolysis Bullosa

Answer 21

abnormality in keratinocyte integrity split occurs in epidermis

Question 22

junctional Epidermolysis Bullosa

Answer 22

strong blisters that heal wtih a scar split occurs in DEJ

Question 23

dystrophic Epidermolysis Bullosa

Answer 23

induces scarring split occurs in dermis

Question 24

Epidermolysis Bullosa acquista

Answer 24

a rare condition that is not inherited and usually presents in adult life

tense blisters appear at sites of trauma

Question 25

define haploinsufficiency

Answer 25

only one working copy of the gene and so reduced protein production leading to abnormal or diseased state

Question 26

define dominant negative

Answer 26

expression of abnormal protein interferes with normal protein

Question 27

define gain of function

Answer 27

mutant protein gains a new function, affecting cell processes

Question 28

define complete loss of protein

Answer 28

Au R 2 faulty copies of the gene product no protein

Question 29

Neurofibromatosis type I CF

Answer 29

cafe au lait macules neurofibromas axillary or inguinal freckling optic glioma \>2 lisch nodules

Question 30

what disease is this seen in

Answer 30

neurofibromatosis type 1 | (axillary or inguinal freckling)

Question 31

Neurofibromatosis type I - genetics

Answer 31

caused by mutation in Ras GAP - targeted therapy for MEK inhibitors

Question 32

Answer 32

neurofibromas - neurofibromatosis type 1

Question 33

Answer 33

lisch nodule - neurofibromata