1.1 Pathology of Skin (pt 1) Flashcards

1
Q

what is the deadliest of all skin cancers?

provide characterisitics!

A

malignant melanoma

strongly associated w/ sun exposure

inherently immunogenic (T-cell)

(mutation = cell cycle regulator: p16/INKa, CDK4), growth factor receptors - RAS, BRAF & telomerase)

= vary color, large, irregular, hetergenous, notched borders, pigment incontinence

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2
Q

what is mastocytosis

and what is an example

A

spectrum of rare disorders due to increased number of mast cels in skin & maybe other organs

-ex: urticaria pigmentosa: predominate in children; could be nodular, diffuse &/or multiple

10% of ind w/ mast cell dz have systemic dz (ex adults: kit mutation in systemic mastocytisis)

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3
Q

What are the ABCDEs of Melanoma

(what does a normal mole look like?)

A

A: asymmetry

B: border

C: color

D: diameter

E: evolving

normal mole = brown/tan, flat/raised, round/oval, <6mm

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4
Q

what is the difference btn papule and nodule

A

both - elevated dome shaped/ flat topped lesion

papule = 5 mm

nodule = >5mm

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5
Q

provide the following for Cowden syndrome:

inheritance pattern

chromosomal location/gene/protein

fxn/manifestation of loss

A

inheritance pattern: AD

chromosomal loaction/gene/protein: 10q23/ PTEN/PTEN

fxn/manifestation of loss = trichilemmomas (lipid phosphatase/benign follicular appendage tumor) & internal adenocarcinoma (breast & endometrial)

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6
Q

how common are skin conditions in the US?

A

very common!

affect 1/3 of US population

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7
Q

what are examples of tumors of the dermis

A

benign fibrous histocytoma (dermatofibroma)

Dermatofibrosarcoma protuberans

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8
Q

explain the difference btn epidermal ridges and demal papillae

A

epidermal ridges (aka rete ridges) that project into the dermis *look different based on location*

dermal papillae - project into the epidermis

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9
Q

What is dermatofibrosarcoma protuberans

A

= primary fibrosacroma of the skin

==> translocation COL1A1 (collagen 1A1) & PDGF-B –> overexpress PDGF-B –> tumor cells growth through an autocrine loop

= encapsulated, cellular (could involve fat), slow growing & locally aggresive - rarely metastasize

*Storiform pattern (last pic) ; closely packed fibroblasts arranged radially (pinwheel appearance)

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10
Q

This shows a stain that positively stained fro the melanocytic marker, what is the marker?

A

HMB-45

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11
Q

how do actinic keratosis present histologically

A

atypical basal cells- pink/red cytoplasm

Intercellular bridges present (not in BCC!)

Parakeratosis - thickened stratum corneum that retain their nuclei

Elastosis: thick, blue-gray elastic fibers of superficial dermis

BM intact (not in SCC!)

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12
Q

how does the basillar layer mature?

A

bottom to top

columnar cuboidal –> stellae

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13
Q

what is lentigo

A

localized, circumscribed melanocytic hyperplasia (linear, non-nested)

–>infancy & childhood

-DO NOT darken w/ sun

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14
Q

provide the following for familial melanoma syndrome:

inheritance pattern

chromosomal loaction/gene/protein

fxn/manifestation of loss

A

inheritance pattern: AD

chromosomal loaction/gene/protein: 9p21 - CDKN/p16/INK4 or CDKN2/p14/ARF

fxn/manifestation of loss: melanoma

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15
Q

what are the disorders of pigmentation and melanocytes

A

freckles (ephelis)

lentigo

melanocytic nevus

dysplastic nevi

melanoma

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16
Q

how do actinic keratosis present?

who is most suseptible

A

elderly

= prolif of keratin process make horn (aka hyperkeratosis)

=tan, brown, red or flesh colored < 1cm

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17
Q

what is the word for thickening of the stratum corneum bc qualitative abnormality of keratin

A

hyperkeratosis

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18
Q

provide the following for Tuberous sclerosis:

inheritance pattern

chromosomal loaction/gene/protein

fxn/manifestation of loss

A

inheritance pattern: AD

chromosomal loaction/gene/protein: 9p34/TSC1/hamartin & 16p13/TSC2/tuberin

fxn/manifestation of loss: (-)ly regulate mTor, angiofibroma, mental retardation

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19
Q

what is the morphology for acanthosis nigricans

A

epidermis and underlying enlarged dermal papillae undulate sharply and make numerous peaks/valleys

see hyperplasia, hyperkeratosis & slight basal cell layer hyperpigmentation

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20
Q

what is scale

A

dry, horny, platelike outgrowth

result from imperfect cornification

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21
Q

Describe the pathogenesis, morphology, presentation of BCC

*rmr BCC = most common invasive CA in humans & most common malignancy worldwide BUT metastasis is rare*

A

pathogenesis: uncontrolled hedgehog signaling - PTCH LOF mutation

morphology: basal cell prolif; 1. multifocal growth from epidermis & 2. nodular lesion growing downward into dermis ad cords and islands of basophilic cells w/ hyperchromic nuclei

palisading - cells in periphery of tumor cell islands tend to be arranged radially w/ long axes in parallel alignement

present: pearly papules w/ telangictasia, elevated & translucent w/ some sort of central umbilication

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22
Q

define/describe (presentation & microscopicaly):

seborrheic keratoses

A

= common, benign epidermal tumor; common in elderly

=pigmented or pale/irritated (only bc ppl pick at skin) ; mostly on the trunk, superficial, flat, round/coin-like

=waxy exophytic lesions (stucco keratosis) crumble/scrape off

pseudohorn cysts- keratin on surface- rete pegs proliferate and highly pigmented

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23
Q

what are the components of epidermis

A

(epidermis = most superficial)

=stratified squamous epithelium

squamous epithelial cells (keratinocytes)

melanocytes

dendritic cells

merkel cells

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24
Q

define excoriation

A

traumatic lesion breaking the epidermis - cause raw linear area

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25
Q

what is the pathogenesis and morphology of melanocytic nevus

A

pathogenesis: activating mutation in BRAF, less often NRAS

Morphology:

  1. junctional : flat; nest of nevus cells at dermoepidermal jxn (common in kids) - larger cells & produce melanin
  2. compound: rounded/raised; nests/cords of melanocytes that extend into underlying dermis - smaller, produce little pigment

older adults: intradermal nevi

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26
Q

what is onycholysis

A

separation of nail plate

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27
Q

what is Leser Trelat sign?

A

sudden appearance of multiple seborrheic keratosies & paraneoplastic syndrome

b/c keratnocyte stimulation via TGFalpha made by visceral cancers

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28
Q

what is the mnemonic for painful skin lesions

A

GLEN-DAB

Glomus tumor (typically under nail)

Leiomyoma (angio-type)

Eccrine spirademona

Neurofibroma

Dermatofibroma

Angiolipoma

Blue rubber bled nevus

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29
Q

describe the following for blue nevus

diagnostic architectural features,

cytologic feature

clinical significance

A

diagnostic architectural features: non-nested dermal inflitration, often have fibrosis

cytologic feature: highly dendritic, heavily pigmented cells

clinical significance: black/blue nodule; confused w/ melanoma CAN BE PAINFUL

30
Q

This shows vertical growth phase of a tumor, what are favorable factors in relation to this??

A

surface of skin to tumor depth < 1 mm = good!

31
Q

describe the following for spindle & epitheliod cells (spitz nevus):

diagnostic architectural features,

cytologic feature

clinical significance

A

diagnostic architectural features: fascicular growth

cytologic feature: large, plump, pink-blue cytoplasm; fusifrom cells

clinical significance: common in kids; confused w/ hemangioma (bc are red & pink nodules)

32
Q

what is benign fibrous histiocytoma (dermatofibroma)

A

= adults (esp legs of young/middle aged women)

-asymptomatic; increase/decrease in size over time

=indolent

*may have Hx of antecedent trauma –> abnormal response to injury/inflam –> increased ammount of altered collagen in hypertrophic scar or keloid

lenticular cells present on biopsy

33
Q

what is the word for thickened, rough skin (esp due to repeated rubbing)

A

lichenification

34
Q

what pigmented lesion is most common in children

how do they present?

A

freckles (epheis)

1-10mm tans-red-brown macules ==> fade depending on sun exposure

due to focal melanin overproduction w/i basal keratinocytes

35
Q

describe the following for congenital nevus:

diagnostic architectural features,

cytologic feature

clinical significance

A

diagnostic architectural features: deep dermal, maybe subQ growth around adnexa, neurovascular bundles and BV walls

cytologic feature: look like ordinary acquired nevi

clinical significance: present @ birth, increased melanoma risk

36
Q

provide the following for xeroderma pigmentosum:

inheritance pattern

chromosomal loaction/gene/protein

fxn/manifestation of loss

A

inheritance pattern: AR!!!

chromosomal loaction/gene/protein: 9q22 & others; XPA/XPA & others

fxn/manifestation of loss: melanoma & nonmelanoma skin cancer (malfxn of NER)

37
Q

what is vacuolization

A

vacuoles w/i or adjacent to cells

often = basal cell basement membrane zone area

38
Q

when do you usuallly see hydropic swelling (ballooning)

A

intracellular edema bc viral infxn

39
Q

what are adnexal (appendage tumors)

A

= hundreds of neoplasms arising from showing differentiation toward cutaneous appendages

ex: eccrine poroma, cylindroma, syringoma, sebaceous adenoma, pilomatricoma, etc

40
Q

why is it that some areas of the skin have 4 layers and others have 5

A

stratum lucidum - only seen in places w/ thick layers of skin (palm/soles)

layers mneumonic: “Come, Lets Get Sun Burned”

41
Q

what is a wheal

A

itchy, transient, elevated lesion w/ variable blanching & erythema formed as result of dermal edema

42
Q

what is the relationship of melanocytes and keratinocytes

A

melanocyte makes melanin and delivers it to keratinocytes

-melanin in keratinocyte help protect skin from UV

43
Q

what is darier sign

A

see in acute hypersensitivity rxn

-localized are of dermal edema & wheal when lesional skin is rubbed

44
Q

what is the function of keratinocytes

A

tough, durable physical layer

attached via desmosomes

make keratin: intermediate filaments proteins making up the cytoskeleton of cells (Ab in cytokeratine used to identify pathology in keratin)

make cytokines and defensins

45
Q

what are epithelial inclusion cysts

A

slight elevation & nodular cyst

“sebaceous cyst” = sebaceous material - can ooze if ruptured (foul smell)

“wen”

46
Q

provide the following for Muir-Torre Syndrome

inheritance pattern

chromosomal loaction/gene/protein

fxn/manifestation of loss

A

inheritance pattern: AD

chromosomal loaction/gene/protein: 2p22/MSH2/MSH2 & 3p21/MLH1/MLH1

fxn/manifestation of loss: sebaceous neoplasia( DNA match repair) & internal malignancy (colon & others)

47
Q

what are tumors of cellular migrants to the skin

A

mycosis fungoides (cutaneous T cell lymphoma)

mastocytosis

48
Q

what are the components of dermis

A

Connective tissue:

lymphocytes: (primarily T)

lymphatics

small BVs

afferent & sensory N. fibers

adnexal components (hair follicle, sebaceous glands, & sweat glands)

49
Q

what is dermatographism

A

dermal edema - looks like hives due to localized stroking or apparently normal skin w/ pointed instument

50
Q

what is the fxn of the arrector pili M

A

attached to hair shaft

-constrict and cause “goose bumps”

51
Q

what is Spongiosis

A

edema causing intercellular bridges btn cells to become prominent

52
Q

what are the types of benign epithelial tumors

A

=SAFE

Seborrheic keratoses

Acanthosis nigricans

Fibroepithelial polyps

Epithelial or follicular inclusion cyst

53
Q

what are warning signs of melanoma that don’t follow the ABCDE rule

A

sore that doesnt heal

spread of pigment from border of the spot to surrounding skin

redness/ new swelling beyond border

change in sensation (itchy, tender, pain)

change in surface (scaliness, oozing, bleeding, lump/bump)

54
Q

what is the word for elevated flat-topped lesion, >5 mm

A

plaque

55
Q

describe the following for dysplastic nevus

diagnostic architectural features,

cytologic feature

clinical significance

A
  • diagnostic architectural features: coalescent intraepigermal nests; larger than other nevi (>5mm)
  • cytologic feature: irregular shaped, dark stained nuclei= cytologic atypia &

lamellar fibrosis in dermis–> melanin incontinence (melanin lost and eaten by macrophage:

; lentiginous melanocyte hyperplasia

  • clinical significance: *potential precursor for melanoma*

_(_germline mutation of gene encoding cell cycle regulators - p16/INKa, CDK4 & telomerase)

56
Q

what are premalignant epidermal tumors

& what factors increase risk of getting these

A

actinic keratosis

outdoor,sun exposure & light skin

57
Q

describe the following for Halo nevus

diagnostic architectural features,

cytologic feature

clinical significance

A

diagnostic architectural features: lymphocytic infiltration around nevus cell

cytologic feature: like ordinary acquired nevus

clinical significance: host immune response against nevus cell &&& surrounding normal melanocytes

58
Q

Describe the pathogenesis and morphology of SCC

A

pathogenesis - come from precursor actinic keratosis; greater risk with sun exposure–> acquired mutation form UV light affect pyrimidine dimers; also associated w/ immunosuppression (chemo/organ transplant)

morphology: well demarcated, red, scaly plaque, solar elastosis (nodular and ulcerated) (BM lost)

59
Q

what is lentiginous

A

linear pattern of melanocyte proliferation w/i epidermal basal cell layer

60
Q

what is the difference btn macule and patch

A

both = circumscribed, flat lesion; distinguished by color

macule = 5 mm

patch = >5 mm

61
Q

what another word for subcutaneous tissue layer

A

hypodermis

62
Q

what are skin adnexa (appendages)

A

derived from skin and usually next to it - include hair follicle, sebaceous and sweat glands

macroscopic: appendages = specialized structures like nails of fingers and toes

63
Q

What is acanthosis nigricans & what causes it?

A

dark, thick skin in creases of flexual areas/ velvet like texture

80% - benign; acquired (obesity, DM, pineal/pituitary tumor, autoimmune endocrinopathy) & inherited (rare, auto dom)

20%- associated w/ malignancy - solid cancers (most common GI carcinoma); paraneoplastic phenomenon

64
Q

what is the difference btn erosin and exocytosis

A

erosion: discontinuity, complete loss of epidermis
exocytosis: infiltration of epidermis by inflam cells

65
Q

what is a fibroepithelial polyp and associated morphology

A

common sporadic, cutaneous lesion on (axilla & soft tissue) neck, trunk, face and intertriginous areas

morphology: soft flesh colored tumor attached by fibrovascular salk; covered in benign epidermis

may be associated w/ DM, obesity, intestinal polyposis & increase during pregnancy

66
Q

what is dyskeratosis

A

abn/premature keratinization w/i cells below stratum granulosum

67
Q

what is the word for diffuse epidermal hyperplasia

A

acanthosis

68
Q

differentiate vesicle, bulla and blister

A

all = fluid filled

vesicle: <5 mm
bulla: >5 mm
blister: either!

69
Q

What tumor may evolve and involve ceribroform nuclei?

describe presentation

A

mycosis fungoides = local T4 cutaneous lymphoma –> evolve to system lymphoma =sezary syndrome (express ceribroform nuclei)

(indolent –> aggressive)

> 40 yr

=scaly, red-brown patches, raised, scaling plaque

-prognosis depends on % body surface involved and progression of patch

(nodule –> plaque –> ulcerations)

70
Q

provide the following for nevoid BCC syndrome:

inheritance pattern

chromosomal location/gene/protein

fxn/manifestation of loss

A

inheritance pattern: AD

chromosomal location/gene/protein: 9q22/PTCH

fxn/manifestation of loss: multiple BCC, jaw cyst