Derm genetics

Question 1

occurence of malignant melanoma in one or more 1st degree relatives
50+ melanocytic nevi

Answer 1

dysplastic nevi

syndrome

Question 2

displastic nevis syndrome inheritance

Answer 2

AD, incomplete penetrance

Question 3

mutation in displastic nevis syndrome

Answer 3

CDKN2A (9p21)

Question 4

risk of melanoma in displastic nevis syndrome

Answer 4

100%

Question 5

nevis shows bridging of adjecent nests, increased singe malanocytes along basal layer, papillary dermal fibrosis

Answer 5

displastic nevis syndrome

Question 6

nevoid basal cell carcinoma syndrome inheratice

Answer 6

AD

Question 7

gene defect in nevoid basal cell carcinoma syndrome

Answer 7

PTCH 9q22

Question 8

gene type involved in PTCH

Answer 8

sonic hedgehog

Question 9

other than skin findings in nevoid basal cell carcinoma syndrome

Answer 9

medulloblastoma, ovarian fibroma, odontogenic keratocyst, rib abnormalities, palmar pits

Question 10

palmar pits

Answer 10

nevoid basal cell carcinoma syndrome

Question 11

odontoenic karatocyst

Answer 11

nevoid basal cell carcinoma syndrome

Question 12

histology of nevoid basal cell carcinoma syndrome

Answer 12

proliferation of basolid cells extending down from overlying epidermis
peripheral palisading
stomal clefting

Question 13

cafe au lait, axillary freckling and lish nodules found in

Answer 13

Neurofibromatosis type 1

Question 14

Neurofibromatosis type 1 gene defect

Answer 14

17q11

Question 15

Neurofibromatosis inheritance

Answer 15

AD (both)

Question 16

Neurofibromatosis type 2 gene defect

Answer 16

22q

Question 17

bilateral schannomas, multiple meningiomas, cafe au lait

Answer 17

Neurofibromatosis type 2

Question 18

unencapulated, well demarcated proliferation of spindle cells

Answer 18

neurofibromas

Question 19

muir-torre inheritance

Answer 19

AD

Question 20

gene defect in muir-torre

Answer 20

defect in DNA mismatch repair

Question 21

bejin and malignant sebacous tumors

Answer 21

muir-torre

Question 22

muir-torre has a high risk of:

Answer 22

underlying adenocarcinoma, usually gastrointestinal

Question 23

yellow-pink tumors on head and neck

Answer 23

sebacous tumor

Question 24

multivaculated cytoplasm, basaloid proliferation, mitosis, necrosis

Answer 24

sebacous carcinoma

Question 25

cowden’s syndrome inheritance

Answer 25

AD

Question 26

cowden’s syndrome gene defect

Answer 26

10q22,

Question 27

PTEN

Answer 27

cowden’s syndrome

Question 28

multiple mamattomas and benign follicular neoplasms

Answer 28

cowden’s syndrome

Question 29

internal malignacies with cowdens;

Answer 29

carcinoma of breast and thyroid, ovarian cysts, neuromas, GI polyps

Question 30

dermal nodule composed of cells with clear cytoplasm, with no mitosis or atypia

Answer 30

trichilemmoma

Question 31

inheritance of xeroderma pigmentosa

Answer 31

AR

Question 32

extreme photosensitivity

Answer 32

xerodoma pigmentosa

Question 33

tuberous sclerosis gene defect

Answer 33

TCS1/2

Question 34

protein defects in tuberous sclerosis

Answer 34

hamartin and tuberin

Question 35

internal malignancies with tuberous sclerosis

Answer 35

renal, CNS tumors

Question 36

mental retardatiom, seizures and skin findings

Answer 36

tuberous sclerosis

Question 37

multiple facial angiofibromas, ash leaf macules, shagreen patch

Answer 37

tuberous sclerosis

Question 38

genetic defect in an elemsnt responsible for skin integrity

Answer 38

epidermolysis bullosa

Question 39

autoimmune disease that can be aquired later resulting in blistering

Answer 39

epidermolysis bullosa