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Flashcards in Derm genetics Deck (39):
1

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

dysplastic nevi
syndrome

2

displastic nevis syndrome inheritance

AD, incomplete penetrance

3

mutation in displastic nevis syndrome

CDKN2A (9p21)

4

risk of melanoma in displastic nevis syndrome

100%

5

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

displastic nevis syndrome

6

nevoid basal cell carcinoma syndrome inheratice

AD

7

gene defect in nevoid basal cell carcinoma syndrome

PTCH 9q22

8

gene type involved in PTCH

sonic hedgehog

9

other than skin findings in nevoid basal cell carcinoma syndrome

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

10

palmar pits

nevoid basal cell carcinoma syndrome

11

odontoenic karatocyst

nevoid basal cell carcinoma syndrome

12

histology of nevoid basal cell carcinoma syndrome

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

13

cafe au lait, axillary freckling and lish nodules found in

Neurofibromatosis type 1

14

Neurofibromatosis type 1 gene defect

17q11

15

Neurofibromatosis inheritance

AD (both)

16

Neurofibromatosis type 2 gene defect

22q

17

bilateral schannomas, multiple meningiomas, cafe au lait

Neurofibromatosis type 2

18

unencapulated, well demarcated proliferation of spindle cells

neurofibromas

19

muir-torre inheritance

AD

20

gene defect in muir-torre

defect in DNA mismatch repair

21

bejin and malignant sebacous tumors

muir-torre

22

muir-torre has a high risk of:

underlying adenocarcinoma, usually gastrointestinal

23

yellow-pink tumors on head and neck

sebacous tumor

24

multivaculated cytoplasm, basaloid proliferation, mitosis, necrosis

sebacous carcinoma

25

cowden's syndrome inheritance

AD

26

cowden's syndrome gene defect

10q22,

27

PTEN

cowden's syndrome

28

multiple mamattomas and benign follicular neoplasms

cowden's syndrome

29

internal malignacies with cowdens;

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

30

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

trichilemmoma

31

inheritance of xeroderma pigmentosa

AR

32

extreme photosensitivity

xerodoma pigmentosa

33

tuberous sclerosis gene defect

TCS1/2

34

protein defects in tuberous sclerosis

hamartin and tuberin

35

internal malignancies with tuberous sclerosis

renal, CNS tumors

36

mental retardatiom, seizures and skin findings

tuberous sclerosis

37

multiple facial angiofibromas, ash leaf macules, shagreen patch

tuberous sclerosis

38

genetic defect in an elemsnt responsible for skin integrity

epidermolysis bullosa

39

autoimmune disease that can be aquired later resulting in blistering

epidermolysis bullosa