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SBL Exam 2 > 1.1 Pathology of Skin (pt 1) > Flashcards

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
what is the pathogenesis and morphology of melanocytic nevus
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
26
what is onycholysis
separation of nail plate
27
what is Leser Trelat sign?
_sudden appearance of multiple seborrheic keratosies_ & paraneoplastic syndrome b/c keratnocyte stimulation via _TGFalpha_ made by **_visceral cancers_**
28
what is the mnemonic for painful skin lesions
GLEN-DAB Glomus tumor (typically under nail) Leiomyoma (angio-type) Eccrine spirademona Neurofibroma Dermatofibroma Angiolipoma Blue rubber bled nevus
29
describe the following for blue nevus diagnostic architectural features, cytologic feature clinical significance
**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
This shows vertical growth phase of a tumor, what are favorable factors in relation to this??
surface of skin to tumor depth \< 1 mm = good!
31
describe the following for spindle & epitheliod cells (spitz nevus): diagnostic architectural features, cytologic feature clinical significance
**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
what is benign fibrous histiocytoma (dermatofibroma)
= 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
what is the word for thickened, rough skin (esp due to repeated rubbing)
lichenification
34
what pigmented lesion is most common in children how do they present?
freckles (epheis) 1-10mm tans-red-brown macules ==\> fade depending on sun exposure due to focal melanin overproduction w/i basal keratinocytes
35
describe the following for congenital nevus: diagnostic architectural features, cytologic feature clinical significance
**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
provide the following for xeroderma pigmentosum: inheritance pattern chromosomal loaction/gene/protein fxn/manifestation of loss
inheritance pattern: **_AR!!!_** chromosomal loaction/gene/protein: **9q22** & others; **XPA/XPA** & others fxn/manifestation of loss: **melanoma & nonmelanoma skin cancer** (malfxn of NER)
37
what is vacuolization
vacuoles w/i or adjacent to cells often = basal cell basement membrane zone area
38
when do you usuallly see hydropic swelling (ballooning)
intracellular edema bc _viral infxn_
39
what are adnexal (appendage tumors)
= hundreds of neoplasms arising from showing differentiation toward cutaneous appendages ex: eccrine poroma, cylindroma, syringoma, sebaceous adenoma, pilomatricoma, etc
40
why is it that some areas of the skin have 4 layers and others have 5
stratum lucidum - only seen in places w/ thick layers of skin (palm/soles) layers mneumonic: "Come, Lets Get Sun Burned"
41
what is a wheal
itchy, transient, elevated lesion w/ variable blanching & erythema formed as result of dermal edema
42
what is the relationship of melanocytes and keratinocytes
melanocyte makes melanin and delivers it to keratinocytes -melanin in keratinocyte help protect skin from UV
43
what is darier sign
see in acute hypersensitivity rxn -localized are of dermal edema & wheal when lesional skin is rubbed
44
what is the function of keratinocytes
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
what are epithelial inclusion cysts
slight elevation & nodular cyst "sebaceous cyst" = sebaceous material - can ooze if ruptured (foul smell) "wen"
46
provide the following for Muir-Torre Syndrome inheritance pattern chromosomal loaction/gene/protein fxn/manifestation of loss
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
what are tumors of cellular migrants to the skin
mycosis fungoides (cutaneous T cell lymphoma) mastocytosis
48
what are the components of dermis
Connective tissue: lymphocytes: (primarily T) lymphatics small BVs afferent & sensory N. fibers adnexal components (hair follicle, sebaceous glands, & sweat glands)
49
what is dermatographism
dermal edema - looks like hives due to localized stroking or apparently normal skin w/ pointed instument
50
what is the fxn of the arrector pili M
attached to hair shaft -constrict and cause "goose bumps"
51
what is Spongiosis
edema causing intercellular bridges btn cells to become prominent
52
what are the types of benign epithelial tumors
=SAFE Seborrheic keratoses Acanthosis nigricans Fibroepithelial polyps Epithelial or follicular inclusion cyst
53
what are warning signs of melanoma that don't follow the ABCDE rule
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
what is the word for elevated flat-topped lesion, \>5 mm
plaque
55
describe the following for dysplastic nevus diagnostic architectural features, cytologic feature clinical significance
* **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
what are premalignant epidermal tumors & what factors increase risk of getting these
actinic keratosis outdoor,sun exposure & light skin
57
describe the following for Halo nevus diagnostic architectural features, cytologic feature clinical significance
**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
Describe the pathogenesis and morphology of SCC
_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
what is lentiginous
linear pattern of melanocyte proliferation w/i epidermal basal cell layer
60
what is the difference btn macule and patch
both = circumscribed, flat lesion; distinguished by color macule = 5 mm patch = \>5 mm
61
what another word for subcutaneous tissue layer
hypodermis
62
what are skin adnexa (appendages)
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
What is acanthosis nigricans & what causes it?
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
what is the difference btn erosin and exocytosis
erosion: discontinuity, complete loss of epidermis exocytosis: infiltration of epidermis by inflam cells
65
what is a fibroepithelial polyp and associated morphology
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
what is dyskeratosis
abn/premature keratinization w/i cells below stratum granulosum
67
what is the word for diffuse epidermal hyperplasia
acanthosis
68
differentiate vesicle, bulla and blister
all = fluid filled vesicle: \<5 mm bulla: \>5 mm blister: either!
69
What tumor may evolve and involve ceribroform nuclei? describe presentation
**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
provide the following for nevoid BCC syndrome: inheritance pattern chromosomal location/gene/protein fxn/manifestation of loss
inheritance pattern: AD chromosomal location/gene/protein: 9q22/PTCH fxn/manifestation of loss: multiple BCC, jaw cyst

SBL Exam 2 (8 decks)

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