skin pathology Flashcards

1
Q

excoriation

A

traumatic lesion breaking the epidermis and causing a raw linear area

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2
Q

lichenification

A

thickened and rough skin usually d/t rubbing/scratching

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3
Q

macule/patch

A

circumscribed flat lesion distinguished from surrounding tissue by color
macule 5mm

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4
Q

onycholysis

A

separation of nail from bed

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5
Q

papule/nodule

A

elevated dome-shaped or flat topped lession

papule 5mm

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6
Q

plaque

A

elevated flat topped lesion usually >5mm

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7
Q

pustule

A

discrete pus filled raised lesion

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8
Q

scale

A

dry, horny, platelike excrescence

usually result of imperfect cornification

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9
Q

blister/vesicle/bulla

A

blister- any fluid-filled raised lesion

vesicle 5mm

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10
Q

wheal

A

itchy, transient, elevated lesion w/variable blanching and erythema

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11
Q

acantholysis

A

loss of intracellular cohesion btwn keratinocytes

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12
Q

acanthosis

A

diffuse epi hyperplasia

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13
Q

dyskeratosis

A

abnormal permature keratinization w/in cells below stratum granulosum

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14
Q

erosion

A

discontinuity of skin showing incomplete loss of epi

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15
Q

exocytosis

A

infiltration of epi by inflammatory cells

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16
Q

hydropic swelling

A

intracellular edema of keratinocytes

often seen in viral infections

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17
Q

hypergranulosis

A

hyperplasia of stratum granulosum

often d/t intense rubbing

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18
Q

hyperkeratosis

A

thickening of stratum corneum

often associated with qualitative abnormality of keratin

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19
Q

lentiginous

A

a linear pattern of melanocyte proliferation w/in epi basal cell layer

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20
Q

papillomatosis

A

surface elevation caused by hyperplasia and enlargement of contiguous dermal papillae

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21
Q

parakeratosis

A

keratinization w/retained nuclei in stratum corneum

on mucous membranes parakeratosis is normal

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22
Q

spongiosis

A

intracellular edema of epidermis

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23
Q

ulceration

A

discontinuity of skin showing complete loss of epidermis revealing dermis or subcutis

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24
Q

vacuolizaton

A

formation of vacuoles w/in adjacent to cells often refers to basal cell BM membrane zone area

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25
Q

fibroepithelial polyps (FEP)

A

aka: skin tags, acrochordon, fibroma molle, squamous papilloma
occur usually 30+ more in obese
associated with areas of rubbing of clothes

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26
Q

epithelial inclusion cyst aka

A

epithelial cyst
follicular cyst
wen

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27
Q

epithelial inclusion cyst

A
  • common
  • occur on face, scalp, and upper trunk where there are a lot of hair follicles
  • caused by obstruction of hair follicle above infundibulum
  • filled with keratinous debris and lined by squamous granular cells
  • if ruptured provoke chronic inflammation rxn w/ granuloma
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28
Q

seborrheic keratosis

A
proliferation of epidermal basal cells
common in middle-aged and older
'postage stamp' appearance 
slightly elevated plaque
on non-sun exposed areas
removed b/c can sometimes lead to malignant melanoma
many have mutations in FGFR3
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29
Q

sign of lesser-trelat

A

acute onset of SKs w/malignancies (GI)

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30
Q

seborrheic keratosis aka

A

horn cysts

pseudocysts

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31
Q

acanthrosis nigricans

A

hyperpigmentation flexural regions
epidermal hyperplasia of stratum spinosum
80% benign

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32
Q

benign acanthrosis nigricans

A

occurs in childhood or puberty
AD w/variable penetrance
associated with obesity or endocrine issues

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33
Q

malignant acanthrosis nigricans

A

underlying malignant adenocarcinoma stimulates epi to undergo hyperplasia
arises in middle-aged and older
usually GI adenocarcinoma

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34
Q

adnexal neoplasms

A

overwhelming majority 99% are benign
arise from ductal and glandular epi cells in:
-sweat glands and ducts
-hair-bulb germinal epi and sebaceous glands
-apocrine glands and ducts

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35
Q

benign adnexal tumors

A

symmetrical
small (<1cm)
superficial
vertical in orientation

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36
Q

malignant adnexal tumors

A

asymetrical, large, deep, wide

sebaceous carcinoma most common

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37
Q

what are the 4 adnexal tumors that arise from hair follicles

A

trichoepithelioma
trichofolliculoma
tricholemmoma
pilomatricoma

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38
Q

hair follicle adnexal tumors clinical

A

cowden syndrome:

-multiple tircholemmomas w/dominant inheritance usually have multiple GI tumors as well

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39
Q

sebaceous adnexal tumors

A

sebaceous adenoma

sebaceous epithelioma

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40
Q

sebaceous gland tumors histo

A

cytoplasmic lipid vacuoles

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41
Q

sebaceous gland tumors clinical

A

muir-torre syndrome
sebaceous adenomas w/associated colorectal malignancy
variant of Lynch syndrome
rounded nodule can appear yellowish

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42
Q

syringocystadenoma papilliferum

A

apocrine gland tumor

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43
Q

syringocystadenoma papilliferum clinical

A

may develop in mixed epidermal-adenexal hamartomas of face and scalp termed nevus sebaceous

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44
Q

eccrine gland tumors

A

syringioma (lower eyelids)
cylindroma (forehead and scalp)
poroma (palmar or plantar region)

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45
Q

eccrine gland tumors histo

A

eccrine ducts lined by membrnaous eosinophilic cuticles tadpole like epi structures

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46
Q

eccrine gland tumors clinical

A

may be confused with basal cell carcinoma

turban tumor

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47
Q

pilomatrixma

A

anucleate ‘ghost cells”

no granular layer

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48
Q

hemangiomas in kid

A

infants have extra mitotic activity and tumors can be very cellular, but usually regress

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49
Q

benign fibrous histocytoma/dermatofibroma

A
  • benign soft tissue neoplasm seen in adults, frequently on legs of young-middle aged women
  • tan-brown papules which are usually small (>1cm) and may be tender
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50
Q

increased melanin in keratinocytes w/NO increase in number of melanocytes

A

sun tan
freckles
cafe au lait spots
melasma

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51
Q

increased melanin in keratinocytes and small increase in number of melanocytes

A

solar lentigo

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52
Q

loss of melanin in keratinocytes

A

vitiligo, acute transient

albinism

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53
Q

loss of melanocytes permanent

A

vitiligo, chronic

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54
Q

sun tan

A

tanning d/t UV exposure increase melanin in keratinocytes w/o increasing # of melanocytes
increased protection against solar radiation

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55
Q

melasma/cholasma/mask of prego

A

hypermelanosis characterized by development of sharply demarcated blotchy, brown macules on face
symmetrical distribuation
d/t increased E
can also be seen in OCPs and menopause

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56
Q

solar lentigo/lentigo senilis/lentigo simplex

A

benign discrete hyperpigmented macule occuring on chronically sun exposed skin in adults
increased melanin pigmetn in kertinocytes with variable increase in # of jnx melanocytes

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57
Q

lentigo maligna

A

name given to an in situ melanoma arising in sun exposed skin of face

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58
Q

acute vitiligo

A

loss of melanin in keratinocytes

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59
Q

albinism

A

loss of melanin in keratinocytes
defect in tyrosine
an enzyme necessary for melanin production

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60
Q

chronic lack or loss of melanocytes

A

chronic vitiligo

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61
Q

melanocytic nevi

A

benign neoplams of melanocytes

acquired mutation in RAS: NRAD and BRAF

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62
Q

junctional nevi

A

maculopapular visible appearance

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63
Q

compound nevi

A

papular visible appearance

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64
Q

intradermal nevi

A

frequently nodular visible appearance

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65
Q

congenital nevus

A

deep dermal and sometimes subQ growth around adnexa, NV bundles

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66
Q

clinical significance of congenital nevus

A

present at birth

large variants have increased melanoma risk

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67
Q

blue nevus

A

non nested dermal infiltration often with associated fibrosis

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68
Q

blue nevus cytological features

A

highly dendritic

heavily pigmented nevus

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69
Q

blue nevus clinical significance

A

black-blue nodule

often confused w/melanoma

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70
Q

spindal and epithelioid cell nevu aka spitz nevus

A

fasicular growth
large pump cells cel pink-blue cyto
fusiform cells

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71
Q

spitz nevus clinical

A

common kin kids
red-pink nodule
often confused w/melanoma and hemangiomas

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72
Q

halo nevus

A

lymphocytic infiltration surrounding nevus cells

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73
Q

halo nevus clinical

A

host immune response against nevus cells and surrounding normal melanocytes

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74
Q

dysplastic nevus

A

coalescent intraepi nests

cytological atypia

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75
Q

dysplastic nevus clinical

A

potenitla marker/precursor of melanoma

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76
Q

blue nevus

A

thin delicate melanocytes that may be in a dense fibrotic stroma with abundant melanin pigment
completely benign with no increased risk for melanoma

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77
Q

Dysplastic nevus

A
sporadic not prone to malignancy
familial: AD dysplastic nevus syndrome
gross appearance worrisome if 
-asymmetric
-border irregular
-color uneven
-diameter >6mm
occurs on sun or non-sun areas
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78
Q

familial dysplastic nevus syndrome

A

AD
CDKN2A and CDK4 mutations
50% chance of CA by 60

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79
Q

histo of dysplastic nevus

A

prominent proliferation of melanocytes arranges in nests at tips of rete ridges
rete tips often ‘bridged’
papillary dermis frequently has increased fibrosis

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80
Q

malignant melanoma

A

derived from cells capable of forming melanin
may occur in any part of body (eye, mucous membranes)
primarily in adults (3rd decade+)
aggressive with significant mortality

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81
Q

subtypes of malignant melanoma

A

lentigo maligna (in situ sun exposed areas)
lengitgo maligna melanoma (invasive)
superficial spreading (in situ or invasive with mostly horizontal growth)
nodular (invasive mostly vertical)
acral lentifinous (palms, soles, and subungual; non-caucasian, in situ, invasive)

82
Q

familial melanomas

A

10-15%
many have dysplastic nevi
increased telomerase activity from mutated TERT gene
KIT mutations in non-sun areas
P16 disinhibition by CDKN2A and CDK4 mutations

83
Q

ABCD

A

asymmetry
border irregularity
color variation
diameter (>6mm)

84
Q

solar lentigo

A

focal autonomous overproduction of melanosomes with resultant sustained increase in melanin keratinocytes

85
Q

solar elastosis

A

‘sailor or farmer’ skin

permanent incremental damage to reticular collagen (elastosis) with loss of texutre (leathery skin) and wrinkling

86
Q

actinic keratosis

A

neoplastic proliferation of keratinocytes that have not yet involved the full thickness; characterized by increased keratin production (scaling) and underlying dermal increase in vascularity (redness)

87
Q

actinic keratosis clinical

A

precancerous
scalp, face, dorsum of forearms, and hands
aka solar or senile keratosis
45-65
erythematous, reddish-brown macules, or mininmally elevated papules with overlying cales
mm-cms
may be tender

88
Q

cutaneous horn

A

severe actinic keratosis

89
Q

squamous cell carcinoma

A

malignant proliferation of epidermal keratinocytes which has potential for mets to regional nodes or distant sites if its not sun related
penetrates into dermis

90
Q

Bowen disease

A

SCC in situ

91
Q

SCC etiology

A

long term sun exposure risk

immunosupression increases incidence

92
Q

causes of SCC

A

HPV
chronic ulcers and draining fistulas (osteomyelitis)
burns/radiation
chimney sweepers (scrotal CA)
chemicals (tars, arsenic, tabacco and betel nut)
genetic syndromes

93
Q

syndromes associated with SCC

A
epidermodysplasia verruciformis (HPV 5&8)
xeroderma pigmentosa (nucleotide excision repair pathway)
94
Q

SCC clinical

A

sun exposed areas
early invasive SCC is usually small, firm, skin-colored, or red nodule with indistinct margins)
may be granular and bleed
may be smooth, verrucous, or papillomatous
become invasive and central ulceration may occur
low mortality

95
Q

keratoacanthoma

A
rapidly growing (days-wks) neoplasm
occurs on sun-exposed areas of older adults 
M>W
often clears spontaneously 3-4 months
grade I, but should still be removes
96
Q

keratoacanthoma histo

A

idenitcal to SCC so aka SCC keratoacanthoma type

97
Q

BCC

A

several types of skin neoplasms originating from basal epi of epidermis that virtually never metastasizes

98
Q

types of BCC

A

nodular
sclerosing
both have potential for local invasion and destruction of adjacent dermis
show preference for hair-bearing skin with sun exposure

99
Q

gorlin syndrome

A
nevoid basal cell carcinoma syndrome
AD
multiple BCCs before 20
palms and soles
odontofenic keratocyts
medulloblastomas
ovarian fibromas
100
Q

BCC clinical

A

85% head and neck
remainder on trunks and limbs
rodent ulcers

101
Q

nodular BCC

A

traditional or classic appearance
dome-shaped pearly papule/nodule
prominant surface dilated dermal vessels (telangiectasia)
easily Tx with excision

102
Q

sclerosing BCC

A
morpheafoam
face
rodult ulcers
porrly defined margins
difficult to excise, high recurrence rate
MOHS surgery
103
Q

superficial BCC

A

mutlifocal erythmatous scaly plaque, elevated rolled edges
non-sun exposed areas on proximal limbs or trunk
dermal-epi jnx
easily excised, but frequently recur
do not invade or met
may be confused with malanoma

104
Q

dermatofibrosarcoma protuberans

A

malignant superficial fibroblastic neoplams
locally aggressive, but rare mets
translocation of COL1A1 & PDGFB -> increased PDGFB

105
Q

bednar tumor

A

is pigmented variant of dermatofibrosarcoma protuberans

106
Q

cutaneous T-cell lymphomas

A

erythematous plaques with scaling and ulceration

infiltrate of atypical lymphocytes that accumulates beneath and invades epi

107
Q

T-cell subtypes

A

mycosis fungoides

sezary syndrome

108
Q

mycosis fungoides

A

CD4+ T cell lymphoma of skin
CLA, CCR4, & CCR10
aggressive neoplasm with medial survival 8-9yrs
M>F

109
Q

phases of mycosis fungoides

A
  • inflammatory erythrodermic pre-mycotic patch
  • plaque
  • tumor
110
Q

sezary syndrome

A

variant which skin involvement is manifest as generalized exfoliative erythroderma
cerebriform nuclei Sezary cells- survival <3yrs

111
Q

mastocytosis

A

numerous ovoid cells with uniform centrally located nuclei in dermis
giemsa stain- purple metachromatic granules w/in cyto of mast cells

112
Q

acute inflammatory dermatoses

A

urticaria (hives)
eczema
erythema multiforme

113
Q

chronic inflammatory dermatoses

A
seborrheic dermatitis
psoriasis
lichen simplex chronicus
lichen planus
discoid lupus erythematosus
rosacea
114
Q

blistering/bullous diseases

A

pemphigus
bullous pemphigoid
dermatitis herpetiformis

115
Q

panniculitis dermatoses

A

erythema nodosum

erythema induratum

116
Q

infectious dermatoses

A

viral: verrucae and molluscum
bacterial: acne and impetigo
superficial fungal infections: tinea

117
Q

infestations dermatoses

A

ticks
chiggers
lice
mites

118
Q

non-inflammatory dermatoses

A

ichthyosis
epidermolysis bullosa
porphyrias

119
Q

acute urticaria mast cell and IgE dependent

A

acute allergic rxn- med emergency
most common onset 20-40
acute onset- minuntes
severe discomfort profound itching

120
Q

acute urticaria mast cell dependent and IgE independent

A

usually drug ro other substance triggers mast cells directly

opiates, contrast media

121
Q

acute urticaria mast cell independent and IgE independent

A

aspirin induced vasodilation

hereditary angioneurotic edema (C1-inhibitor deficiency)

122
Q

all types of acute urticarias

A

systemic anaphylaxis
laryngeal edema
Tx with anti-histamines, subQ epi, and IM injection, corticosteroids
or if C1 inhibitor deficiency Tx with C1 inhibitor, kallikrein inhibitor, or fresh frozen plasma)

123
Q

acute urticaria classic skin lesion

A

abrupt appearance of wheal with intesete pruitis

usually resoves in 24hrs, but can persist for months

124
Q

eczema aka

A

spongiotic dermatitis

125
Q

eczema

A

epidermal edema with prominant lymphocytes in dermis and epi
most common in kids
acute onset of red, papulovesicular lesions with ‘boiling over’ appearance which may ooze or crust
T cell mediated type IV

126
Q

erythema mulitforme

A

IV rxn to drugs
infections
malignancy
collagen vascular disorders

127
Q

infections which cause erythema mulitforme

A

herpes simplex
deep fungal (histo)
salmonella typii
leprosy

128
Q

drugs which cause erythema mulitforme

A

abx
salicylates
anti-malarias

129
Q

erythema mulitforme

A

mutliforme b/c wide variety of clinical presentations

characteristic target lesions

130
Q

stevens-johnson syndrome

A

severe, systemic febrile form of erythema mulitforme with mucosal involvement

131
Q

toxic epidermal necrolyssi

A

is form of erythema mulitforme with diffuse necrosis and sloughing of skin and mucosae

132
Q

seborrheic dermatitis

A

chronic dermatitis more common than psoriasis
involves skin regions with high density of sebaceous glands (scalp, nasolabial folds, skin of auditory canal, intergluteal folds)
excessive dandruff of scalp
not d/t sebaceous gland abnormality

133
Q

seborrheic dermatitis Tx

A

antifungals -> therefore infection with superficial mallassezia furfur may be underlying pathology

134
Q

psoriasis

A

chronic skin condtion
assocaited with arthritis occuring over affected joints
elbows, knees, scalp, lumbosacral area, intergluteal cleft and glans penis

135
Q

koeber phenomonon

A

trauma can induce psoriatic lesions in predisposed peopl

136
Q

typical psoriasis lesion

A

well demarcated pink-salmon plaque

many different clinical presentations

137
Q

what HLA is assocaitedw ith psoriasis

A

HLA-Cw*0602

increased CDE sensitized cells

138
Q

lichen simplex chronicus

A

d/t chronic rubbing or scratching

if nodular= pruigo nodularis

139
Q

lichen planus

A

self-limiting chronic inflammatory condition of skin and mucous membranes
usually spontaneously resolves 1-2 yrs
multiple plaques that are symmetrically distributed

140
Q

lichen planus buzz words

A

wickham striae
sawtoothing
civatte bodies
koebner phenomenon

141
Q

discoid lupus erythematosus

A

localized cutaneous manifestations of SLE w/no systemic manifestations and usually does not progress to systemic SLE
1/3 of pts with skin manifestations will have systemic SLE
malar erythema and discoid (coin-like) scaling plaques

142
Q

lupus erythmatosus clinical

A

chronic plaques showing thinned and glistening epidermis and ears with dilated tortuous dermal vessels
central hypopigmentaton with peripheral hyperpigmentation

143
Q

lupus erythmatosus histo

A

infiltrate of lymphocytes w/in superficial and deep dermis, marked thinning of epidermis w/loss of normal rete ridges and hyperkeratosis

144
Q

band tests

A

granular deposits of immunoglobulin (IgG) and C’3 at dermal-epidermal jnx
lupus erythematosus

145
Q

rosacea

A
females 30-60
uncertain pathophys (numerous triggers, abnormal cathelicindin may cause inflammation)
146
Q

stages of rosacea

A

pre-rosacea (flushing)
erythematotelengiectatic
papulopustular
phymatous

147
Q

blistering/bullous diseases

A

common friction blister
immune-mediated
genetic-congenital

148
Q

common friction blister

A

intraepidermal blister, usually benath granulosum with scant or not inflammation in papillary dermis

149
Q

immune mediated

A

pemphigus group
bellous pehmphigoid
dermatitis herpetiformis

150
Q

genetic-congenital

A

epidermolysis blullosa

porphyrias

151
Q

pemphigus group of disease

A

autoimmune skin disease

IgG autoabs to desmosomes (spinous processes) of squamous epi cells

152
Q

types of pemphigus group of disease

A
pemphigus vulgaris
pemphigus vegetans
pemphigus foliaceus
pemphigus erythematosus
paraneoplastic pemphigus
153
Q

pemphigus vulgaris

A

80%
involves mucosa, scalp, face, axilla, groin and other pressure points
Abs against Dsg1&3 -> deep suprabasal epi
reticular/fishnet pattern of Ab deposition

154
Q

pemphigus vegetans

A

rare
verrucous plaques instead of blisters
axilla, groin, flexural surfaces

155
Q

pemphigus foliaceus

A

more benign course
face, scalp, chest, back, spares mucous membranes
epidemic in south america
Abs only against Dsg1 -> superficial subcorneal blister

156
Q

pemphigus erythematosus

A

mild form of foliaceus which primarily involves malar area of face

157
Q

paraneoplastic pemphigus

A

with malignancies, usually lymphoma

158
Q

bullous phemphigoid

A

Abs against BPAG1&2 component of hemidesmosomes -> blisters at lamina lucinda of BM
linear deposition of Abs
blisters look like friction blisters, but larger and burst easier

159
Q

dermatitis herpetiformis

A

IgA Abs against fibrils that anchor hemidesmosomes to dermis

160
Q

dermatitis herpetiformis

A

IgA to gliadin attacks reticulin in dermal papillae fibrils
rare
M>F
3-4th decades

161
Q

dermatitis herpetiformis is associated with what?

A

celiacs disease

anti-gliadin Abs x-react with reticuin in anchoring fibrils in dermal papillae

162
Q

dermatitis herpetiformis clincal

A

intensetly pruitic plaques and vesicles

extensor surfaces, elbows, knees, upper back, buttocks

163
Q

panniculitis

A

inflammation of Sub-Q fatty tissue

septal or lobular

164
Q

types of panniculitis

A
erythema nodosum
erythemia induratum
weber-christian disease
factitial panniculitis
lupus
165
Q

erythema nodosum

A

acute septal inflammation associated with infection by many agents: strep, TB, sarcoidosis, IBS, malignacies, drugs (sulfonamides, oral contraceptives)

166
Q

erythema induratum

A

uncommon lobular panniculitis of unknown etiology

167
Q

weber-christian disease

A

relapsing febrile nodular panniculitis in kids and adults

168
Q

factitial panniculitis

A

self-induced lobular panniculitis traumatic injury

169
Q

verruca vulgaris

A

common in kids and adolescents

generally self-limited (6months-3yrs)

170
Q

verruca vulgaris etiology

A

HPV:
cutaneous 2/4
anogenital 6/11

171
Q

verruca vulgaris clinical

A

distinct gray-white to tan
.1-1cm papules
firm consistency ‘cobble-stone’ roughed surface, firm to palpation

172
Q

condyloma plantaris and palmis

A

on sole of foot or palm of hand

tend to be elongated broad and flat larger 1-2cm plauqes

173
Q

condyloma acuminatums

A

anogenital

cauliflower like

174
Q

molluscum contagiosum

A

common self-limited viral disease caused by poxvirus
spread by direct contact
.2-.4 nodules on face, trunk, and anogenital area

175
Q

acne vulgaris

A

chronic smoldering infection of the hair follicle by lipase producing propionibacterium acnes

176
Q

Tx for acne vulgaris

A

retin-A and abx

retin-A alters chemical composition of sebum and P.acnes cannot thrive and completely eradicated by abx

177
Q

Impetigo

A

common superficaial infection of skin
highly contagious
hands and face

178
Q

forms of impetigo

A
impetigo contagiosa (non-bullous)
impetigo bullosa
179
Q

etiology of impetigo

A

staph aureus can cause both types
bacterial toxins cleabe desmoglein1
honey colored crust highly infectious
historically beta-strep caused contagiosa and S. aureus was bullosa

180
Q

superficial fungal infections

A

infections by dermatophyte species of fungi
infections confined to corneum of epi
thrive in keratin of cornified layer

181
Q

predisposing condition for superficial fungal infections

A
high moisture content of immediate skin environment
lack of exposure to sunlight
increased temp in skin region
enclosed space such as shoes or groin
use of communal showers
182
Q

tinea

A

superficial fungal infections of skin

183
Q

tinea capitis

A

scalp in kids

184
Q

tinea corporis

A

ringworm

185
Q

tinea cruris

A

inguinal skin adjacent to genitalia

obese men in hot weather

186
Q

tinea pedis

A

athletes foot

187
Q

tinea barbae

A

beard in men

188
Q

onychomycosis

A

fungal infection of nail beds

189
Q

tinea versicolor

A

yeast

malassezia furfur infection

190
Q

direct injurious effect/insect part/sections

A

mosquitoes

chigger

191
Q

acute or delayed hypersensitivity rxn

A

bee

wasp

192
Q

direct toxin effect

A

brown recluse spider

193
Q

vectors for disease

A

mosquitoes: malaria, west nile, dengue
ticks: lyme, RMSF

194
Q

non-inflammatory dermatoses

A

ichthyosis
epidermolysis bullosa
porphyrias

195
Q

ichthyosis

A

ususally genetic abnormalitiy leading to hyperkeratosis

196
Q

epidermolysis bullosa

A

genetic abnormalities in structural proteins -> massive bullae

197
Q

porphyrias

A

usually AD
defects in heme synthesis -> increased intermediates somehow causing urticaria and subepidermal vesicles
worse with sun exposure

198
Q

types of epiderolysis bullosa

A

simplex
junctional
dystrophic
mixed

199
Q

simplex type of epiderolysis bullosa

A

keratin 14 or 5 mutations leads to suprabasalar lesions

200
Q

junctional type of epiderolysis bullosa

A

defect at lamina lucinda

201
Q

dystrophic types of epiderolysis bullosa

A

anchoring fibril defect leading to problems at lamina densa

202
Q

types of porphyrias

A
  • acute neurovisceral with GI and neural symptoms
  • acute neurovisceral with cutaneous problems
  • non-acute cutaneous with light induced lesion