genes

Question 1

Type VII collagen mutation (COL7A1).

Answer 1

Epidermolysis Bullosa: dystrophic type

Question 2

TP53

Answer 2

SCC

Question 3

Loss of CDKN2A (encodes p16/INK4a) which leads to CDK4 activation

Answer 3

• dysplastic nevi

- melanoma

Question 4

HLA-C

Answer 4

psoriaisis

Question 5

CYLD

Answer 5

cylindroma

Question 6

TERT

Answer 6

• dysplastic nevi

- melanoma

Question 7

CDKN2A –> affecting p14/ARF

Answer 7

-melanoma

Question 8

CTNNB1

Answer 8

Pilomatrixomas

Question 9

notch signaling

Answer 9

SCC

Question 10

Mutation of keratin 5 or 14

Answer 10

Epidermolysis Bullosa: simplex type

Question 11

mutation at laminin subunit

Answer 11

Epidermolysis Bullosa: junctional type

Question 12

p16/INK4a accumulation

Answer 12

arrests grth so melanocytic nevus not turn into melanoma

Question 13

t(17;22) = COL1A1 (collagen 1A1) and PDGFB (platelet derived GFβ).

Answer 13

Dermatofibrosarcoma Protuberans

Question 14

CDKN2A –> affecting p15/INK4b

Answer 14

-melanoma

Question 15

FGFR3

Answer 15

seborrheic keratosis

Question 16

NF1

Answer 16

-melanoma

Question 17

uncontrolled hedgehog signaling

Answer 17

BCC

Question 18

TLR2

Answer 18

roseaca

Question 19

P13K/AKT

Answer 19

-melanoma

Question 20

activating mutations of Ras signaling: BRAF or NRAS

Answer 20

• melanocytic nevus
• dysplastic nevi
• melanoma
• SCC (just RAS)

Question 21

IGFR1

Answer 21

acanthosis nigricans

Question 22

KIT

Answer 22

systemic mastocytosis

Question 23

PTCH LoF

Answer 23

• BCC

- Nevoid Basal Cell Carcinoma (NBCC) AKA: basal cell nevus, Gorlin syndrome.