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16: derm Flashcards

1
Q

hypohidrotic ectodermal dysplasia genetics/inheritamce

A

chromosome Xq12 (X-linked)

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2
Q

hypohidrotic ectodermal dysplasia manifests as

A

reduced sweat glands, sparse hair, xerostomia, periocular hyperpigmentation, midface hypoplasia, protuberant lips

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3
Q

white sponge nevus genetics/inheritance

A

AD, keratin 4 or 13

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4
Q

pachyonychia congenita universal lesions

A

thick nails, palmar plantar keratosis, hyperhidrosis

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5
Q

pachyonychia congenita with white plaques in mouth

A

lateral and dorsal tongue

keratin 6a

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6
Q

pachyonychia congenita with neonatal teeth

A

keratin 17

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7
Q

old irrelevant eponyms for pachyonychia congenita

A

jadassohn-lewandowsky
type 1
white oral plaques
6a and 16

jackson-lawler
type 2
neonatal teeth
keratin 17

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8
Q

dyskeratosis congenita aka, inheritance, mutation and function

A

aka Cole-Engman syndrome
x-linked
DKC1 mutation - disrupts telomerase

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9
Q

dyskeratosis congenita major malignancies

A

premalignant oral leukoplakia, 30% –> cancer

aplastic anemia

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10
Q

xeroderma pigmentosum major malignancies

A

SCC of lips and tip of tongue (sun damage)

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11
Q

hereditary mucoepithelial dysplasia manifests

A

fiery-red erythema of hard palate, giingiva, tongue
can develop lung dz
sparse hair and affected vision

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12
Q

fiery-red erythema of hard palate, giingiva, tongue
can develop lung dz
sparse hair and affected vision

A

hereditary mucoepithelial dysplasia

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13
Q

incontinentia pigmenti aka, gender predilection, mutation, manifestations

A

aka Block-Sulzberger syndrome
37:1 F:M
Nemo gene mutation (x28)
affects Klinefelter males or those w mosaicism (2+ populations of cells w different phenotype) for Nemo

eyes, skin, CNS

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14
Q

incontinentia pigmenti stages

A

vesicular, verrucous, hyperpigmentation, atrophy

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15
Q

Darier’s dz aka, mutation, histo look

A

Dyskeratosis follicularis
mutation in Calcium pump (SERCA2)
ATP2A2

test tube rete ridges
two types of dyskeratotic cells (corps rounds and grains)

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16
Q

Peuth Jeghers mutation

A

STK11 (LKB1) on chr19

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17
Q

STK11

A

Peuth Jeghers chr19

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18
Q

LKB1

A

Peuth Jeghers chr19

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19
Q

SERCA2

A

Darier’s dz

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20
Q

nemo gene

A

incontinentia pigmenti

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21
Q

Block-Sulzberger

A

incontinentia pigmenti

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22
Q

DKC1

A

dyskeratosis congenita

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23
Q

thick nails, palmar plantar kertosis, hyperhidrosis

A

pachyonychia congenita

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24
Q

HHT =

types and manifests

A

hereditary hemorrhagic telangiectasia

type 1 - ENG (endoglin) mutation, lung involvement
type 2 - ALK1, liver

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25
Q

diagnostic criteria for HHT

A

at least 3:

epistaxis, telangiectasias, AV malformations, family history HHT

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26
Q

ENG mutation

A

HHT1, lungs affected

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27
Q

ALK1 mutation

A

HHT2, liver affected

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28
Q

ATP2A2

A

SERCA2 Ca pump Darier’s

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29
Q

abnormal collagen syndrome

A

ehlers danlos

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30
Q

most commonly affected collagen in ehlers danlos

A

5

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31
Q

ehlers danlos classic symptoms

A

joint laxity, easy bruising, skin elasticity, papyraceous skin scarring

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32
Q

joint laxity, easy bruising, skin elasticity, papyraceous skin scarring

A

ehlers danlos

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33
Q

gorlin sign

A

50% of ehlers danlos pts can touch tip of nose w tongue

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34
Q

touch tip of nose w tongue

A

gorlin sign

50% of ehlers danlos pts

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35
Q

tuberous sclerosis mutation and manifests

A

TSC1/2
mental retardation, seizures, multiple hamartomas, caridac rhabdomyaomas, renal angiomyolipoma, angiofibromas of skin, desmoplastic fibromas jaw

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36
Q

cardiac rhabdomyomas

A

tuberous sclerosis

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37
Q

facial angiofibromas

A

tuberous sclerosis

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38
Q

renal angiomyolipoma

A

tuberous sclerosis

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39
Q

shagreen patches

A

hamartomas on skin of trunk of tuberous sclerosis

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40
Q

hamartomas on skin of trunk of tuberous sclerosis

A

shagreen patches

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41
Q

ash leaf spots

A

ovoid hypopigmentation tuberous sclerosis

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42
Q

ovoid hypopigmentation tuberous sclerosis

A

ash leaf spots

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43
Q

potato like hamartomas of CNS in tuberous sclerosis

A

tubers

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44
Q

tubers in tuberous sclerosis

A

potato like hamartomas

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45
Q

Cowden syndrome mutation and chromosome

A

PTEN on chr10

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46
Q

PTEN

A

chr 10

Cowden syndrome

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47
Q

Cowden diagnostic criteria

A

need 2 of:
trichilemmomas
oral papules
acral keratosis

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48
Q

Cowden similar findings which three syndromes

A

Proteus-like syndrome
Bannayan-Riley-Ruvalcaba
Lhermitte-Duclos

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49
Q

Epidermolysis bullosa 4 types

A

simplex
junctional (dental)
dystrophic (dominant or recessive; oral lesions)
hemidesmosomal

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50
Q

oral lesions which epidermolysis bullosa

A

dystrophic

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51
Q

recessive dystrophic epidermolysis bullosa characteristic lesion

A

mittenlike deformity

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52
Q

mittenlike deformity

A

recessive dystrophic epidermolysis bullosa

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53
Q

types of pemphigus (4)

A

vulgaris and vegetans affect mouth, attack desmoglein 3

erythematous and foliaceous – attack desmoglein 1 only

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54
Q

which pemphigus attacks desmoglein 3

A

vulgaris and vegetans

parabasal epidermis and mouth –> parabasal cleft

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55
Q

which pemphigus attacks desmoglein 1

A

erythematous and foliaceous

superficial epidermis –> superficial cleft

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56
Q

which desmoglein in mouth

which component

A

3 – vegetans and vulgaris

parabasal epidermis and mouth –> parabasal cleft

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57
Q

desmoglein 1 where

A

superficial epidermis –> superficial cleft

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58
Q

parabasal cleft

A

desmoglein 3 (oral; PV)

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59
Q

superficial cleft

A

desmoglein 1

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60
Q

pemphigus direct IF ABs

A

IgG, IgM, C3

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61
Q

paraneoplastic pemphigus conditions

A

leukemia, lymphoma, thymoma

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62
Q

paraneoplastic pemphigus manifests

A

lip crusting like EM
skin lesions like LP
conjunctival scarring like MMP

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63
Q

MMP ABs

A

against basement membrane (180, 230)

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64
Q

adhesion of palpebra

A

symblepharon – MMP

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65
Q

entropion

A

scarring –> eyelid turns inward

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66
Q

eyelid turns inward

A

entropion, 2/2 scarring; mmp

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67
Q

eyelashes rub against cornea

A

trichiasis

mmp

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68
Q

trichiasis

A

eyelashes rub against cornea

mmp

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69
Q

mmp indirect fluorescence

A

negativ

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70
Q

pv indirect fluorescence

A

positive

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71
Q

mmp direct fluorescence ABs

A

IgG and C3

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72
Q

linear IgA bullous dermatosis where

A

IgA deposits in BM

most skin lesions

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73
Q

blood filled vesciles in soft palate

A

angina bullosa hemorrhagica

hx of trauma or corticoid

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74
Q

epidermolysis bullosa acquisita

A

autoAB against collagent type 7

oral and skin lesions

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75
Q

autoAB against collagent type 7

A

epidermolysis bullosa acquisita

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76
Q

artificial bulla formed when skin incubated in salt solution

A

epidermolysis bullosa acquisita

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77
Q

IHC epidermolysis bullosa acquisita

A

IgG on connective tissue

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78
Q

most common autoimmune blistering condition

A

bullous pmephigoid

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79
Q

bullous pemphigoid vs MMP

A

bullous limited clinical course, MMP progressive

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80
Q

erythema multiforme precipitated by

A

50% infection (herpes or mycoplasma pneumoniae) or drugs (abx/analgesics)

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81
Q

reiter sybdrome aka and triad

A

reactive arthritis
nongonococcal urethritis, arthritis, conjunctivitis

seen in HIV+

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82
Q

geographic tongue on penis

A

balanitis circinata

reiter’s

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83
Q

chronic ulcerative stomatitis ABs

A

autoAB against p63-like protein

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84
Q

autoAB against p63-like protein

A

chronic ulcerative stomatitis

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85
Q

urethritis, arthritis, conjunctivitis

A

reactive arthritis aka reiters

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86
Q

HLA B27

A

reactive arthritis aka reiters

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87
Q

balanitis circinata

A

geographic tongue on penis

reiter’s

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88
Q

chronic ulcerative stomatitis vs lichen planus

A

CUS similar to ELP but does not respond to steroids

responds to antimalarials (eg hydroxychloroquiine)

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89
Q

chronic ulcerative stomatitis tx

A

antimalarials (hydroxychloroquine)

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90
Q

discoid lupus aka

A

chronic cutaneous

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91
Q

butterfly malar rash and ddx

A

systemic lupus erythematosis

ddx from erysipelas and melasma

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92
Q

lupus and heart

A

libman sacks pericarditis - warty lesions of valves

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93
Q

warty lesions of valves

A

libman sacks pericarditis in lupus

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94
Q

libman sacks pericarditis

A

warty lesions of valves in lupus

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95
Q

lupus cheilitis

A

vermilion lower lip

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96
Q

lupus categories of signs (4)

A

systemic, musculoskeletal, skin, hematologic

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97
Q

lupus DIF ABs

A

IgM, IgG, C3

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98
Q

positive lupus band test

A

normal skin DIF+

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99
Q

systemic sclerosis aka and basic reason

A

aka scleroderma

dense collagen depostier in excess amts

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100
Q

scleroderma aka and basic reason

A

aka systemic sclerosis

dense collagen depostier in excess amts

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101
Q

acroosteolysis

A

resorption of terminal phalanges
contracture –> claw-like fingers
(scleroderma)

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102
Q

resorption of terminal phalanges

A

acroosteolysis (scleroderma)

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103
Q

hands in scleroderma

A

resorption of terminal phalanges (acroosteolysis)

contracture –> claw-like fingers

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104
Q

claw-like fingers 2/2 contracture

A

scleroderma

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105
Q

face in scleroderma

A

mask like facies (stiff) or mouse facies (atrophy of nasal alae)

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106
Q

mouse facies

A

(atrophy of nasal alae)

scleroderma

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107
Q

mask like facies

A

scleroderma

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108
Q

oral scleroderma 4 manifestations

A

microstomia, purse-string appearance, gingival recession, xerostomia

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109
Q

purse string mouth

A

scleroderma

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110
Q

xray scleroderma

A

diffuse PDL widening, resporption of bone from collagen deposit pressure

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111
Q

localized scleroderma

A

coup de sabre

patch of skin

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112
Q

slceroderma ABs

A

anti-scl-70 (topoisomerase)

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113
Q

anti-scl-70

A

topoisomerase

scleroderma

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114
Q

CREST syndrome components

A

calcinosis cutis (subQ deposition of Ca salts), Raynaud’s phenomenon, Esophageal dysfx, sclerodactyly, telangiectasia

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115
Q

CREST vs HHT

A

CREST anti-centromere AB

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116
Q

anti-centromere AB

A

CREST

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117
Q

acanthosis nigricans three forms/reasons

A

benign
malignant (GI cancers)
pseudo (obesity)

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118
Q

acanthosis nigricans associations

A

diabetes, Addison’s, hypothyroidism, acromegaly, Crouzon, corticoids, contraceptives

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119
Q

ectodermal dysplasia

A

2+ ectodermal structures fail to develop (skin, hair, nails, teeth, sweat glands)

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120
Q

hypohidrotic ectodermal dysplasia genetics

A

Xq12 - X linked, mostly men

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121
Q

features of hypohidrotic ectodermal dysplasia

A

reduced sweat glands, heat intolerance, sparse hair, xerostomia, periocular hyperpigmentation, midface hypoplasia (with protuberant lips)

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122
Q

teeth in hypohidrotic ectodermal dysplasia

A

a/oligo/hypodontia
incisors tapered crown
reduced molar diameter

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123
Q

ectodermal dysplasia all four ectodermal structures

A

odonto-onychodermal dysplasia

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124
Q

histo of ectodermal dysplasia

A

decreased number of sweat glands and hair follicles

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125
Q

decreased number of sweat glands and hair follicles in skin

A

ectodermal dysplasia

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126
Q

Xq12

A

hypohidrotic ectodermal dysplasia

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127
Q

WSN genetics inheritance

A

AD, keratin 4 or 13 (spinous layer of epithelium)

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128
Q

WSN where

A

white plaques cheeks, genital, nasal, anal

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129
Q

characteristic histo feature of WSN

A

perinuclear eosinophilic condensation - tangled mass of keratin tonofilaments

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130
Q

WSN histo picture

A

prominent hyperparak
acanthosis
clearing of c/pl of cells in spinous layer
~ leukoedema and HBID

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131
Q

tangled masses of keratin tonofilamtents

A

WSN - perinuclear eosinophilic condensation

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132
Q

HBID inheritance

A

AD - North Carolina

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133
Q

HBID manifests

A

oral lesions (~WSN) and eye lesions (thick plaques)

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134
Q

cell within a cell

A

HBID

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135
Q

HBID characteristic histo

A

cell within a cell

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136
Q

north carolina epithelial phenomenon

A

hereditary benidn intraepithelial dyskeratosis

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137
Q

lifted nails with accumulated keratin

A

pachyonychia congenita

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138
Q

non-nail manifestations of pachyonychia congenita

A

palmar plantar keratosis with callus, hyperhidrosis, blisters in soles of feet

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139
Q

oral white plaques in pachyonychia which keratins

A

6a or 16

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140
Q

neonatal teeth which pachyonychia keratins

A

6b or 17, no oral white lesions

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141
Q

pachyonychia histo

A

hyperparakeratosis and acanthosis with perinuclear clearing of epithelial cells

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142
Q

reticular skin pigmentation and dysplastic nails

A

dyskeratosis congenita

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143
Q

oral dyskeratosis conhenita

A

bullae on tongue and buccal mucosa –> erosions –> leukoplakia

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144
Q

malignant risks of dyskertoasis congenita

A

aplastic anemia and 30% SCC transformation of tongue and cheek leukoplakia in 10-30 years

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145
Q

aplastic anemia + premalignant oral leukoplakias

A

dyskeratosis conhenita

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146
Q

xeroderma pigemntosum inheritance and mechanism

A

AR trait, DNA repair gene defect

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147
Q

xeroderma pigmentosum skin lesions

A

many cutaneous malignancies at a very early age (1000x)
actinic keratosis – BCC – BCC
melanoma in 5%

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148
Q

oral squamous cell Ca in XP

A

lips, tip of tongue

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149
Q

hereditary mucoepithelial dysplasia inheritance

A

AD

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150
Q

hereditary mucoepithelial dysplasia non-oral manifestations

A

alopecia (eyebrows an dlashes), cataracts in childhood, impaired vision

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151
Q

histo hereditary mucoepithelial dysplasia

A

disorganized epithelial maturation, grayish c/pl vacuoles

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152
Q

fiery red mucosa

A

hereditary mucoepithelial dysplasia – esp palate

also gingiva and tongue

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153
Q

fiery red palate

A

hereditary mucoepithelial dysplasia

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154
Q

incontinentia pigmenti sex and genetics

A

37:1 F:M
lethal in males
surviving M are either Klinefelter (XXY) or mosaic for NEMO (X;28)

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155
Q

NEMO

A

X;28

incontinentia pigmenti

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156
Q

stages of incontinentia pigmenti

A

vesicular - 4 months, bullae on skin
verrucous - 6 month, plaques on limbs
hyperpigmentation (until puberty - swirling macules)
atrophy and depigmentation

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157
Q

swirling hyperpigmentation

A

incontinentia pigmenti

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158
Q

oral incontinentia pigmenti

A

oligo/hypodontia
delayed eruption
small cone shaped teeth

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159
Q

Darier manifests

A

papules on trunk/scalp
excess keratin w foul odor
palmoplantar keratosis nail changes

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160
Q

ddx for palatal lesions of darier

A

inflammatory papillary hyperplasia and nicotine stomatitis

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161
Q

mechanism of darier

A

mutation in SERCA2 (Ca pump)

lack of cohesion of epithelial cells

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162
Q

darier histo

A

dyskeratosis, keratin plug overlying epithelium w a suprabasilar cleft

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163
Q

cleft in darier

A

suprabasilar

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164
Q

histo buzzwords for darier

A

test tube rete ridges

two types of dyskeratotic cells (corps ronds and grains)

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165
Q

test tube rete ridges

A

darier dz

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166
Q

warty dyskeratoma aka (x3)

A

focal acantholytic dyskeratosis
follicular dyskeratoma
isolted Darier’s

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167
Q

warty dyskeratoma vs darier (histo)

A

not prominent corps ronds and grains

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168
Q

PEUTZ JEGHERS MUTATION

A

stk11/lkb1 ON CHR 19

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169
Q

stk1/lkb11

A

chr 19

peutz jeghers

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170
Q

lesions in peutz jeghers distribution

A

periorificial (mouth, nose, anus, genital)

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171
Q

GI issues in peutz jeghers

A

intussusception (proximal telescopes into distal)

hamartomas

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172
Q

malignancy in peutz jeghers

A

GI, breast, panc, F GU, ovary Ca

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173
Q

hereditary hemorrhagic telangiectasia:

aka, types w sites and mutations

A

osler weber rendu
hht1 - ENG - endoglin - lung and CNS (AV fistulas)
hht2 - ALK1 (ACVRL1) - liver (AV fistulas)

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174
Q

metenier sign

A

easy eversion of upper eyelid in ehlers danlos

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175
Q

cigarette paper scarring

A

papyraceous in ehlers danlos

176
Q

ehlers danlos w marked perio dz

177
Q

tuberous sclerosis triad

A

mental retardations, seizures, facial angiofibromas

178
Q

tuberous sclerosis aka (x2)

A

epiloia

bourneville-pringle

179
Q

tuberous sclerosis mutations

A 
TSC1 (chr 9)
TSC 2 (chr 16)
180
Q

angiofibromas in tuberous sclerosis location

A

multiple papules, most in nasolabial fold areas

181
Q

fibromas near nails

A

ungual/periungual fibromas
similar to angiofibromas
around or under margins of nails
tuberous sclerosis

182
Q

ovoid hypopigmentations

A

ash leaf spots
3+ reqd for tuberous sclerosis
better seen w UV light

183
Q

potato like CNS hamartomas

A

tubers of tuberous sclerosis

184
Q

minor features of tuberous sclerosis

A 
multiple enamel pits
gingival fibromas
desmoplastic fibromas
renal cysts
hamartomatous rectal polyps
185
Q

tuberous sclerosis diagnostic criterais

A

2 major or 1 major and 2 minor

186
Q

multiple hamartoma sybdrome aka and genetics

A

Cowden
PTEN hamartoma tumor syndrome
PTEN mutation (chr 10)
high incidence of malignancies

187
Q

similar to Cowden

A

Proeus-like, Bannayan-Riley-Ruvalcaba, and Lhermitte-Duclos

188
Q

Cowden skin findings

A

skin trichilemmomas (around mouth, nosem ears)
acral keratosis (warty growth on dorsal hand)
palmar plantar keratosis
cutaneous hemangiomas/neuromas/lipomas/xanthomas

189
Q

organ findings in cowden

A

thyroid dz (follicaular adenoma/Ca), fibrocystic breast, breast Ca, benign GI polyps

190
Q

oral findings cowden

A

multiple fibromas on gingiva, dorsal tongue, buccal mucosa

191
Q

multiple trichilemmomas

192
Q

diagnostic criteria cowden

A

2 of the 3:
trichilemmomas
oral papules
acral keratosis

193
Q

4 types of epidermolysis bullosa and assoc mutations

A

simplex (ker 5/14)
junctional (laminin; has dental findings; death at birth)
dystrophic (collagen VII, oral lesions)
hemidesmosomal (attachment proteins)

194
Q

oral findings which epidermolysis bullosa

A

junctional and dystrophic

195
Q

keratin 5/14 mutation

A

epidermolysis bullosa simplex

196
Q

oral fingins in dominant dystrophic epidermolysis bullosa

A

gingival erythema na drecession, scarring of vestibule

197
Q

mittenlike deformity

A

recessive dystrophic epidermolysis bullosa

198
Q

oral finsings in recessive dystrophic epidermolysis bullosa

A

scarring –> microstomia and ankyloglossia

199
Q

subepithelial clefting at level of lamina lucida

A

junctional epidermolysis bullosa

200
Q

which desmoglein in mouth

201
Q

hailey hailey what is

A

chronic benign familial pepmhigus
genetic
oral lesions rare

202
Q

age, sex, location for pemphigus

A

M=F
50 avg
mediterranean, south asian, jewish

203
Q

skin bullae in pemphigus

A

flaccid, quickly rupture

204
Q

rounded acantholytic epithelial cells

205
Q

direct IF for pemphigus: reactants and look

A

IgG, IgM, C3 chickenwire intercellular

206
Q

circulating AB in pemphigus

A

shown w indirect IF

correlate w dizsease activity

207
Q

paraneoplastic pemhigus conditions

A

leukemia, lymphoma, Castleman, thymoma

often before tumor identification

208
Q

paraneoplastic pemphigus mechanism

A

IL6 stimulates autoAB

T cells also

209
Q

findings in paraneoplastic pemphigus

A

lip ctrusting like EM, skin lesions like LP, conjunctival scarring like pemphogoid

210
Q

histo in paraneoplastic pemphigus

A

varies – msot cases intra or subepithelial celft

211
Q

substrate for indirect IF for paraneoplastic pemphigus

A

transitional epithelium, rat bladder

212
Q

DIF in paraneoplastic pemhipgus

A

weak

IgG/complement intercellularly or linear at BM

213
Q

targets of paraneoplastic pemphigus

A

envoplakin, periplakin, desmoplakin, desmogelin

214
Q

mucous membrane pemphigoid aka

A

cicatricial pemphigoid

215
Q

age sex for MMP

A

F>M

50-60yo

216
Q

blisters of pemphigoid

A

thicker and tauter than PV

217
Q

eyes in MMP vs PV

A

MMP scarring and symblepharon (adhesion of bulbar and palpebral conjunctivae), entropion (eyelid turns inward), trichiasis (eyelashes rub against cornea and globe)

PV conjunctivitis but no scarring

218
Q

entropion

A

inverted eyelid 2/2 scarring in MMP

219
Q

trichiasis

A

rubbing eyelashes on cornea in MMP

220
Q

pain on intercourse due to vaginal lesions

A

dyspareunia – vaginal lesions of MMP

221
Q

MMP DIF

A

linear band at BM against laminin 5

222
Q

MMP indirect IF

A

does not work well

low levels of circulating ABs

223
Q

linear IgA deposits

A

bullous dermatosis
IgA depostic in basement membrane
skin lesions only, in childhood

224
Q

linear band against laminin

225
Q

plakins are a target in

A

paraneoplastic pemphigus

226
Q

desmoglein 1 is a target in

A

foliaceous and erythematosus pemphigus

227
Q

desmoglein 3 is a target in

A

vegetans and vulgars pemphigus

228
Q

oral lesions which desmoglein

229
Q

cleft location w desmoglein 3

A

parabasilar

230
Q

blood filled vesilces in soft palate

A

angina bullosa hemorrhagica

hx of trauma or corticaoid

231
Q

epidermolysis bullosa acquisita mechanism

A

autoAB against collagen type 7

oral and skin lesions

232
Q

autoAB against collagen type 7

A

epidermolysis bullosa acquisita

oral and skin lesions

233
Q

hx of trauma or corticaoid

blood filled vesilces in soft palate

A

angina bullosa hemorrhagica

234
Q

testing for epidermolysis bullosa acquisita

A

skin incubated in salt solution –> artificial bulla
IgG IHC postiive on connective tissue side of bulla
(vs MMP)

235
Q

gG IHC postiive on connective tissue side of bulla

A

epidermolysis bullosa acquisita

236
Q

most common autoimmune blistering condition

A

bulloud pemphigoid

237
Q

clinical course MMP vs bullous pemphigoid

A

bullous mostly skin and limited course

238
Q

bullous pemphigoid mechanism

A

autoAB against BM component

239
Q

direct IF in bullous pemphigoid

A

IgG and C3 in continuous linear band at BM

BP1 (180) and BP2 (230)

240
Q

indirect IF in bullous pemphigoid

  • vs MMP
  • vs PV
A

positive unlike MMP

no correlation to activity unlike PV

241
Q

erythema multiforme triggers

A 
50% preceded by infx (herpes or mycoplasma pneumoniae)
or drugs (abx/analgesics)
242
Q

age, duration, recurrence of EM

A

20-30yo
self limited 2-6 weeks
20% recurrent

243
Q

skin lesions in EM

A

target-like

244
Q

EM eyes

A

symblepharon

245
Q

toxic epidermal necrolysis age

A

older people, F>M

246
Q

histo EM

A

sub or intraepithelial vesicle necrotic basal cells

mixed perivasc inflammation

247
Q

DIF in EM

A

not helpful

but granular C3 around blood vessels highly suggestive

248
Q

granular C3 around blood vessels highly suggestive of

249
Q

erythema migrans assoc w

A

fissured tongue

and psoriasis

250
Q

erythema mugrans histo

A 
psoriasiform mucositis
Munro abscesses (collections of n/ph in epith)
251
Q

Munro abscesses

A

collections of n/ph in epith

erythema mugrans and psoriasis

252
Q

erythema migrans genetics

A

HLA-CW6

both erythema migrans and psoriasis

253
Q

psoriasis genetics

A

HLA-CW6

both erythema migrans and psoriasis

254
Q

reactive arthritis aka and triad

A

reiter’s syndrome

nongonococcal urethritis, arthritis, conjunctivitis

255
Q

triggers and genetics of reactive arthritics

A

dysentery or STD
HLA-B27
seen in HIV+
9:1 M:F

256
Q

erythema migrans on glans penis

A

balanitis circinata

in Reiter’s

257
Q

glans penis in reiters

A

balanitis circinata (similar to erythema migrans)

258
Q

balanitis circinata

A

erythema migrans on glans penis in Reiter’s

259
Q

skin in reiter’s

A

psoriasiform lesions

260
Q

oral lesions in reiters

A

varied: papules, painless ulcers, geographic tongue

261
Q

histo of oral lesions in reiters

A

~ psoriasis (with munro abscesses)

262
Q

purple pruritic polygonal papules

A

lichen planus

flexor surfaces of extremities

263
Q

4 histo features of lichen planus

A 
hydropic degeneration (destruction of basal cells), infiltrate of T cells, 
CIvatte (colloid, cytoid, hyaline) bodies: degenerating keratinocytes in epith/CT interface
saw tooth rete ridges
264
Q

lichen planus DIF and IIF

A

DIF: deposition of fibrinogen in BM
IIF: negative

both nonspecific

265
Q

lichen sclerosus et atrophicus possible association and cause

A

cause unknown

could be assoc w thyroid dz

266
Q

lichen sclerosus et atrophicus look and demographic

A

white patches on skin, which may cause scarring on and around genital skin

10:1 F:M, esp after menopause

267
Q

white patches on skin, which may cause scarring on and around genital skin

A

lichen sclerosus et atrophicus

268
Q

lichenoid infiltratem sclerosis of connective tissue (~ amyloidosis or scleroderma), edema of upper dermis, hydropic degeneration of cells and atrophy of epithelium

A

lichen sclerosus et atrophicus

269
Q

chronic ulcerative stomatitis AB and look

A

autoAB against p63-like protein

similar to ELP but no striae

270
Q

chronic ulcerative stomatitis tx

A

does not respond to corticoids

responds to antimalarials (hydroxychloroquine)

271
Q

DIF chronic ulcerative stomatitis

A

speckled finely granular IgG in nuclei of basal and parabasal cells (basal 1/3)

272
Q

speckled finely granular IgG in nuclei of basal and parabasal cells on DIF

A

chronic ulcerative stomatitis

273
Q

indirect IF chronic ulcerative stomatitis

A

SES-ANA+ in basal and parabasal

in SLE and scleroderma ANA + in entire epithelium

274
Q

SES-ANA+ in basal and parabasal

A

chronic ulcerative stomatitis IIF

in SLE and scleroderma ANA + in entire epithelium

275
Q

dermatitis herpetiformis aka and assoc

A

Duhring-Brocq dz
90% of pts have gluten-sensitive enteropathy
15-25% of pts w celiac dz develop dermatitis herpetiformis

276
Q

dermatitis herpetiformis clinical

A

grouped excoriations
erythematous urticarial plaques
papules w vesicles

277
Q

grouped excoriations and erythematous urticarial plaques in pt w celiac

A

dermatitis herpetiformis

278
Q

dermatitis herpetiformis histo

A

n/ph in dermal papillae
fibrin deposition and edema
papillary microabscesses form and progress to subepidermal vacuolization and vesicle formation

279
Q

n/ph in dermal papillae –> microabscesses

A

dermatitis herpetiformis

280
Q

dermatitis herpetiformis DIF

A

IgA in a granular pattern in upper papillary dermis

281
Q

IgA in a granular pattern in upper papillary dermis DIF

A

dermatitis herpetiformis

282
Q

GVHD who prone and why

A

recipients of bone marrow transplants (for leukemia, lymphoma, MM, aplastic anemia, thalassemia, and sickle cell anemia)

engrafted cells attack host even w use of immunosuppressive drugs (cell mediated)

283
Q

cyclosporine target, origin, mechanism

A

acts primarily on T cells
natural fungal metabolite
inhibits cell mediated immunity

284
Q

acute vs chronic GVHD

timeline and presentation similar to

A

acute: <100 days, ~TEN

chronic 100+ days, ~SLE, SS, or cirrhosis

285
Q

oral GVHD similar to and other notes

A

~ LP
may form ulcers (r/o HSV, SCC)
xerostomia

286
Q

GVHD immunomodulating prevention

A

AB against CD52 (depletes T lymphocytes)

287
Q

action of anti-CD52 AB

A

depletes T lymphocytes

used for GVHD prevention

288
Q

psoriasis what is and contributing factors

A

increased proliferation of keratinocytes

T lymphocytes and genetic contribute

289
Q

symmetric erythematous plaques w silvery scale

290
Q

psoriasis locations

A

symmetric erythematous plaques w silvery scale

scalp, elbows, knees

291
Q

TMJ involvement in psoriasis

A

psoriatic arthritis

292
Q

psoriatic arhritis how common

A

in 10% of pts

including TMJ

293
Q

small pinpoint bleeding when scales are removed

A

Auspitz sign – psoriasis

294
Q

Auspitz sign

A

small pinpoint bleeding when psoriatic scales are removed

295
Q

most common collagen vascular or connective tissue dz in US

A

lupus erythematosus

296
Q

types of lupus erythematosus

A

systemic, chronic cutaneous (discoid), and subacute cutaneous

297
Q

systemic lupus erythematosus demographic

A

10x females, ~30yo

298
Q

classic face of lupus erythematosus

A

butterfly rash over malar and nose

ddx erysipelas, melasma

299
Q

most common cause of death in lupus

A

kidney failure

300
Q

heart in lupus

emboli?

A

libman-sacks endocarditis
warty lesions of valves 2/2 accumulation of immune complexes and mononucler cells
only rarely cause emboli

301
Q

oral SLE similar to

A

ELP

non specific and granulomatous

302
Q

lupus involving lip - where?

A

lupus cheilitis - vermilion lower lip

303
Q

signs of systemic lupus

A

systemic: fatigue, weight loss
musculoskeletal (arthralgia
skin: rashes, oral lesions
hematologic: anemia, leukopenia

304
Q

CCLE manifest and aka

A

limited to skin or mucosa
erythematous patches on sun-exposed skin
heal w scarring and hypopigmentation and them migrate

aka discoid lupus

305
Q

oral CCLE similar to and different how

A

oral lesions similar to ELP but almost always also have skin lesions

306
Q

subacute LE vs others

A

intermediate bw SLE and CCLE
skin lesions in sun exposed areas but no scarring or pigmentation
no renal damage
may be triggered by meds?

307
Q

lupus skin histo

A

keratin follicular plugging
degeneration of basal layer
aggregates of inflammation in CT, perivascular in deeper CT

308
Q

oral lupus histo vs LP

A

similar but has PAS+ material in basement membrane, subepithelial edema (may form vesicle) and more diffuse, deep inflammatory infiltrate (often perivascular)

309
Q

DIF lupus

A

IgM, IgG, C3 in shaggy or granular band at BM

310
Q

positive lupus band test

A

normal skin with positive lupus DIF
also seen in rheum arthritis, systemic sclerosis, and sjogrens
not in all pts

311
Q

indirect IF lupus

A

95% ANA+ (>640) - sensitive but not specific
dsDNA+
Sm (SLE specific)

312
Q

SLE speicific AB

313
Q

systemic sclerosis aka, what is, demographics

A

aka scleroderma, Hide-Bound dz
excessive dense collagen deposited in tissues
5x F

314
Q

Raynaud’s phenomenon

A

vasoconstriction triggered by stress or cold

315
Q

acro-osteolysis

A

resorption of terminal phalanges and contracture –> claw like fingers
ulceration of finger tips
think scleroderma

316
Q

resorption of terminal phalanges and contracture

A

acro-osteolysis

think scleroderma

317
Q

face of systemic sclerosis

A

mask like (stiff skin) or mouse (atrophy of nasal alae)

318
Q

what gives mouse face

A

atrophy of nasal alaw in systemic sclerosis

319
Q

lungs in systemic sclerosis

A

pulmonar fibrosis –> pulm HTN and heart failure –> death

320
Q

GI in systemic sclerosis

A

esophageal dysfx –> GE reflux

321
Q

oral systemic sclerosis

A

microstomia (lip rigidity), purse-strong appearance, gingival recession, xerostomia, SG enlargement and dysphagia
collagen deposition in tongue –> firm in immobile

322
Q

systemic sclerosis radiology

A

diffuse widening of PDL
resorption of bone (post MD, coronoid process, condyle, chin) 2/2 collagen deposits pressure
also tooth resorption

323
Q

localized scleroderma aka and look

A

morphea
affects only a single patch of skin
en coup de sabre scar

324
Q

en coup de sabre scar

A

localized scleroderma aka morphea

affects only a single patch of skin

325
Q

histo scleroderma and ddx

A

diffuse collage depostiion

ddx: amyloidosis and plasminogen deficiency

326
Q

systemic sclerosis lavs

A

anti-sc170 (topoisomerase I)

327
Q

anti-sc170 aka and what

A

systemic sclerosis

topoisomerase I

328
Q

topoisomerase I

A

systemic sclerosis

anti-sc170

329
Q

tx for systemic sclerosis

A

no optimal

penicillamine to inhibit collagen

330
Q

inhibiting collagen w systemic sclerosis

A

penicillamine

331
Q

CREST vs morphea

A

CREST = limited scleroderma

morphea - localized

332
Q

localized vs limited scleroderma

A

CREST = limited scleroderma

morphea - localized

333
Q

CREST components

A

Calcinosis cutis (Ca salts subQT, multiple nodules)
Raynaud’s (hands/feet in cold become white (vasospasm), bluish (venous stasis), dusky red (return of blood) – may be painful
esophageal dysfx - abnormal collagen deposition
sclerodactyly - stiff smooth fingers, claw like; abnormal collagen in dermis
telangiextasia: facial skin and lips

334
Q

CREST dx

A

anticentromere AB if telangiectasias present and no other signs or history

335
Q

anticentromere AB

A

CREST dx if telangiectasias present and no other signs or history

336
Q

systemic risks of CREST

A

pulmonary HTN and cirrhosis

337
Q

forms of acanthosis nigricans

A

benign
malignant (GI adenoCa, usually simult)
pseudo (obese ppl)

338
Q

benign acanthosis nigricans conditions (7)

A

diabetes, Addison’s, hypothyroid, acromegaly, Crouzon, corticoids, contraceptives

339
Q

location and look of acanthosis nigricans

A

leathery texture, flexural areas

340
Q

oral acanthosis nigricans when and where

A

esp in malignant form

diffuse finely papillary areas, often tongue and upper lip

341
Q

acanthosis nigricans histo

A

hyperorthokeratosis and papillomatosis
skin – melanin but little acanthosis
oral - acanthosis but little melanin

342
Q

ectodermal dysplasia and assoc genetic hypothesis

A

X linked

Lyon hypothesis – inactivation

343
Q

high fever baby no infx

A

consider reduced sweat glands 2/2 ectodermal dysplasia

344
Q

HBID vs WSN

A

HBID gelationous plaques of bulbar conjunctiva adjacent to cornea

345
Q

hyperhidrosis inherited reason

A

pachyonychia congenita

346
Q

meissner corpuscles receptor for

A

touch (tactoid bodies)

347
Q

touch mechanoreceptors

348
Q

pacinian corpuscles receptor for

349
Q

pressure mechanoreceptors

350
Q

free nerve endings receptors for

351
Q

pain mechanoreceptors in skin

A

free nerve endings

352
Q

dyskeratosis congenita injertiance

353
Q

skin pigmentation on face, neck, upper chest and premalignant leukoplakias

A

dyskeratosis congenita

354
Q

skin in dyskeratosis congenita

A

pigmentation on face, neck, upper chest

355
Q

xeroderma pigmentosum inheritance and mechanism

A

AR

excision repair or post replication repair mechanism of DNA

356
Q

excision repair or post replication repair mechanism of DNA

A

xeroderma pigmentosum

357
Q

risks of xeroderma

A

10,000x more prone to malignancy

actinic keratosis, BCC< SCC before 20yo

358
Q

SCC of xeroderma

A

lower lip and tip of tongue

359
Q

fiery red erythema of palate

A

hereditary mucoepithelial dysplasia

360
Q

hereditary mucoepithelial dysplasia inheritance

361
Q

incontinentia pigmenti inheritance and demographic

A

X linked dominant

mostly F or mosaic/Klinefelters M

362
Q

incontinentia pigmenti affects three organs/systems:

A

skin, eye, CNS

363
Q

darier dz in mouth sites

A

hard palate and alveolar ridge

364
Q

peutz jeghers inheritance, genetics and genetic product

A

ad

stk11 (lkb1) - encodes serine/threonine kinase on chr 19

365
Q

stk11 aka, chromosome, gene product, condition

A

aka lkb1
serine/threonine kinase on chr 19
peutz jeghers

366
Q

lkb1 aka, chromosome, gene product, condition

A

aka stk11
serine/threonine kinase on chr 19
peutz jeghers

367
Q

peutz jeghers freckles in the sun

368
Q

crippled cigar skin in response to trauma

A

papyraceous scarring, ehlers danlos

369
Q

tongue reaches nose

A

gorlin sign, ehlers danlose

370
Q

location of angiofibromas in tuberous sclerosis

A

nasolabial fold

371
Q

angiofibromas in nasolabial folds

A

tuberous sclerosis

372
Q

shark skin hamartoma

A

shagreen patch, tuberous sclerosis – TRUNK

373
Q

ash leaf spot and test

A

hypopigmentation in tuberous sclerosis

wood’s lamp (UV) test

374
Q

5 minor criteria for tuberous sclerosis

A 
enamel pits
gingival fibromas (partly 2/2 phenytoin)
bone cysts
renal cysts
rectal hamartoma polyps
375
Q

criteria for tuberous sclerosis diagnosis

A

2 major

1 major + 2 minor

376
Q

cowden genetics and product

A

PTEN on chr 10

phosphate and tensin homolog deletion

377
Q

PTEN location and condition

A

chr 10
phosphate and tensin homolog
cowden syndrome

378
Q

bronchiolitis obliterans

A

in paranoplastic pemphigus, lung epithelium sloughing and occlusion

379
Q

non neoplastic condition w paraneoplastic pemphigus

A

angiofollicular lymph node hyperplasia - Castelman disease

380
Q

basement membrane cleft at lamina lucida

A

junctional epidermolysis bullosa

381
Q

VII collagen defect

A

epidermolysis bullosa dystrophic and acquisita

382
Q

mittenlike scarring

A

epidermolysis bullosa recessive dystrophic

383
Q

keratin 4/15 defect

A

epidermolysis bullosa simplex

384
Q

type XVII collagen defect

A

epidermolysis bullosa junctional

385
Q

what is kindlin

A

hemidesmosomal attachment protein

kindler epidermolysis bullosa

386
Q

which epidermolysis increased SCC risk

A

epidermolysis bullosa recessive dystrophic

387
Q

cytokine of paraneoplastic pemhipgus

388
Q

artificial bulla in saline test for what

A

epidermolysis bullosa acquisita

collagen VII lights up on connective tissue side of artificial bulla

389
Q

immunoreactants for severe MMP

390
Q

primary DIF immunoreactants of MMP

A

IgG and C3

IgM and IgA also poss

391
Q

3 ocular terms in MMP

A

symblepharon (adhesion in eye)
trichiasis – eyelids rub against each other
entropion eyelids invert

392
Q

bullous pemphigoid molecular targets and location

A

bp180 (upper portion of lamina lucida)

bp230

393
Q

bp180

A

bullous pemphigoid target

394
Q

most common autoimmune blistering condition

A

bullous pemphigoid

395
Q

toxic epidermal necrolysis aka

A

Lyell’s syndrome

396
Q

Lyell’s syndrome

A

toxic epidermal necrolysis

397
Q

munro abscesses seen in

A

geographic tongue and psoriasis

398
Q

brooke spiegler syndrome aka, triad, inheritance, genetics

A

(Multiple familial trichoepithelioma=MFT)

1) Trichoepithelioma 2) Cylindroma 3) Spiradenoma

AD
MFT 1 - chr16 q12-q13
MFT2 - chr 9 p21

399
Q

1) Trichoepithelioma 2) Cylindroma 3) Spiradenoma

A

brooke spiegler syndrome aka Multiple familial trichoepithelioma=MFT

400
Q

seronegative spondylartropathies (6)

A

Group of disorders +Positive HLA-B27, -negative RF, ANA

 Ankylosing Spondylitis
 Reactive Arthritis (Reiter Syndrome)
 IBD/Crohn’s
 Psoriatic Arthritis
 Juvenile Idiopathic Arthritis
 Undifferentiated Spondyloarthropathy
401
Q

Group of disorders +Positive HLA-B27, -negative RF, ANA

A

seronegative spondylartropathies

402
Q

butterfly rash

A

50% of SLE

spareas nasolabial fold

403
Q

follicular plugging

A

CCLE skin lesions – keartin in follicle orifices

404
Q

Libman-Sacks endocarditis:

A

50% in SLE have warty vegetations affecting heart valves

405
Q

warty vegetations affecting heart valves

A

Libman-Sacks endocarditis:

50% of SLE pts

406
Q

lupus cheilitis location

A

lower vermillion lip

407
Q

discoid lupus

408
Q

positive lupus band test

A

DIF
Shaggy granular at basement membrane zone IgM, IgG, C3
SLE, RA , Sjogren Syndrome, Systemic Sclerosis (Scleroderma)

409
Q

most specific AB in lupus

A

Sm - 30% of pts are positive

410
Q

how many lupus pts are ANA+

A

95% but not v specific

411
Q

how many SLE pts are anti-dsDNA +

412
Q

pinched ala of nose

A

mouse facies

systemic sclerosis

413
Q

purse string

A

limited mouth opening

systemic sclerosis

414
Q

acro-osteolysis

A

Resorption of terminal phalanges

systemic sclerosis

415
Q

morphea

A

Localized scleroderma

En coup de sabre: scar like

416
Q

limited vs diffuse cutaneous systemic sclerosis

A

limited: skin changes in hands and feet, face, lower portion of limbs

diffuse: Skin involvement in TRUNK and PROXIMAL limbs
 Fibrosis of lungs, kidney, GI, heart

417
Q

CREST components

A 
Calcinosis cutis
Raynaud phenomenon
Esophageal dysfunction
Sclerodactyly
Telangiectasia
418
Q

acanthosis nigricans nature, location, oral location

A

Acquired / Flexure areas / lip, tongue , BM

419
Q

what is malignant acanthosis nigricans

A

usually GI cancer

420
Q

benign acanthosis nigricans seen with (x6)

A 
o DI
o Addison
o Acromegaly
o Hypothyroidism
o Crouzon syndrome
o Drugs (steroids, contraceptices)
421
Q

pachyonychia malignant potential and inheritance

A

none (leukoplakias w type 6a)

AD

422
Q

dyskeratosis congenita malignant potential and inheritance

A

yes, leukoplakias

XLR –> M

423
Q

xeroderma malignant potential and inheritance

A

10,000 more prone to non-melanoma skin ca
melanoma in 5%
AR

424
Q

hereditary mucoepithelial dysplasia malignant potential an dinheritance

425
Q

incontinentia pigmenti malignant potential and inheritance

A

no

XLD –> F

426
Q

age for Darier vs warty dyskeratoma

A

Darier 1-2 decade

Warty >40yrs M

427
Q

peutz jeghers malignant potential, inheritance, genetics

A

10-18x more common but not from the hamartomatous polyps
STK11/LKB1 tumor suppressor serine/threonine kinase

Chr 19p13.3

428
Q

HHT types and genetics

A 
1 = pulm and cerebral = EGL/endoglin on Chr 9
2 = liver (starts later) - ALK1/ACVRL2 on Chr 12

MADH4 - rare
+ juvenile polyposis –> recatal carcinoma

al AD

429
Q

HHT diagnostic criteria

A 
Criteria : Must have 3 out of 4
1- Recurrent spontaneous Epistaxis
2- AV in lungs, liver, CNS
3- Telangiectasia
4- Family Hx HHT
430
Q

HHT malignant potential and inheritance

A

rectal carcinoma if with juvenile polyposis

all types AD

431
Q

which ehlers danlos has perio problems

432
Q

which tuberous sclerosis has more severe expression

A

TSC2 - Chr 16

433
Q

PTEN chromosome

434
Q

cancers in Cowden

A

at least thyroid and breast (benign and malignant hamartomas)

435
Q

inheritance of dystrophic epidermolysis bullosa

A

both AD and AR

recessive most severe

436
Q

inheritance of epidermolysis bullosa types:

A

simplex AD
junctional AR
dystrophic AD and AR

OP - Yield (19 decks)

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