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16: derm Flashcards

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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
diagnostic criteria for HHT
at least 3: | epistaxis, telangiectasias, AV malformations, family history HHT
26
ENG mutation
HHT1, lungs affected
27
ALK1 mutation
HHT2, liver affected
28
ATP2A2
SERCA2 Ca pump Darier's
29
abnormal collagen syndrome
ehlers danlos
30
most commonly affected collagen in ehlers danlos
5
31
ehlers danlos classic symptoms
joint laxity, easy bruising, skin elasticity, papyraceous skin scarring
32
joint laxity, easy bruising, skin elasticity, papyraceous skin scarring
ehlers danlos
33
gorlin sign
50% of ehlers danlos pts can touch tip of nose w tongue
34
touch tip of nose w tongue
gorlin sign | 50% of ehlers danlos pts
35
tuberous sclerosis mutation and manifests
TSC1/2 mental retardation, seizures, multiple hamartomas, caridac rhabdomyaomas, renal angiomyolipoma, angiofibromas of skin, desmoplastic fibromas jaw
36
cardiac rhabdomyomas
tuberous sclerosis
37
facial angiofibromas
tuberous sclerosis
38
renal angiomyolipoma
tuberous sclerosis
39
shagreen patches
hamartomas on skin of trunk of tuberous sclerosis
40
hamartomas on skin of trunk of tuberous sclerosis
shagreen patches
41
ash leaf spots
ovoid hypopigmentation tuberous sclerosis
42
ovoid hypopigmentation tuberous sclerosis
ash leaf spots
43
potato like hamartomas of CNS in tuberous sclerosis
tubers
44
tubers in tuberous sclerosis
potato like hamartomas
45
Cowden syndrome mutation and chromosome
PTEN on chr10
46
PTEN
chr 10 | Cowden syndrome
47
Cowden diagnostic criteria
need 2 of: trichilemmomas oral papules acral keratosis
48
Cowden similar findings which three syndromes
Proteus-like syndrome Bannayan-Riley-Ruvalcaba Lhermitte-Duclos
49
Epidermolysis bullosa 4 types
simplex junctional (dental) dystrophic (dominant or recessive; oral lesions) hemidesmosomal
50
oral lesions which epidermolysis bullosa
dystrophic
51
recessive dystrophic epidermolysis bullosa characteristic lesion
mittenlike deformity
52
mittenlike deformity
recessive dystrophic epidermolysis bullosa
53
types of pemphigus (4)
vulgaris and vegetans affect mouth, attack desmoglein 3 | erythematous and foliaceous -- attack desmoglein 1 only
54
which pemphigus attacks desmoglein 3
vulgaris and vegetans | parabasal epidermis and mouth --> parabasal cleft
55
which pemphigus attacks desmoglein 1
erythematous and foliaceous | superficial epidermis --> superficial cleft
56
which desmoglein in mouth | which component
3 -- vegetans and vulgaris | parabasal epidermis and mouth --> parabasal cleft
57
desmoglein 1 where
superficial epidermis --> superficial cleft
58
parabasal cleft
desmoglein 3 (oral; PV)
59
superficial cleft
desmoglein 1
60
pemphigus direct IF ABs
IgG, IgM, C3
61
paraneoplastic pemphigus conditions
leukemia, lymphoma, thymoma
62
paraneoplastic pemphigus manifests
lip crusting like EM skin lesions like LP conjunctival scarring like MMP
63
MMP ABs
against basement membrane (180, 230)
64
adhesion of palpebra
symblepharon -- MMP
65
entropion
scarring --> eyelid turns inward
66
eyelid turns inward
entropion, 2/2 scarring; mmp
67
eyelashes rub against cornea
trichiasis | mmp
68
trichiasis
eyelashes rub against cornea | mmp
69
mmp indirect fluorescence
negativ
70
pv indirect fluorescence
positive
71
mmp direct fluorescence ABs
IgG and C3
72
linear IgA bullous dermatosis where
IgA deposits in BM | most skin lesions
73
blood filled vesciles in soft palate
angina bullosa hemorrhagica | hx of trauma or corticoid
74
epidermolysis bullosa acquisita
autoAB against collagent type 7 | oral and skin lesions
75
autoAB against collagent type 7
epidermolysis bullosa acquisita
76
artificial bulla formed when skin incubated in salt solution
epidermolysis bullosa acquisita
77
IHC epidermolysis bullosa acquisita
IgG on connective tissue
78
most common autoimmune blistering condition
bullous pmephigoid
79
bullous pemphigoid vs MMP
bullous limited clinical course, MMP progressive
80
erythema multiforme precipitated by
50% infection (herpes or mycoplasma pneumoniae) or drugs (abx/analgesics)
81
reiter sybdrome aka and triad
reactive arthritis nongonococcal urethritis, arthritis, conjunctivitis seen in HIV+
82
geographic tongue on penis
balanitis circinata | reiter's
83
chronic ulcerative stomatitis ABs
autoAB against p63-like protein
84
autoAB against p63-like protein
chronic ulcerative stomatitis
85
urethritis, arthritis, conjunctivitis
reactive arthritis aka reiters
86
HLA B27
reactive arthritis aka reiters
87
balanitis circinata
geographic tongue on penis | reiter's
88
chronic ulcerative stomatitis vs lichen planus
CUS similar to ELP but does not respond to steroids | responds to antimalarials (eg hydroxychloroquiine)
89
chronic ulcerative stomatitis tx
antimalarials (hydroxychloroquine)
90
discoid lupus aka
chronic cutaneous
91
butterfly malar rash and ddx
systemic lupus erythematosis ddx from erysipelas and melasma
92
lupus and heart
libman sacks pericarditis - warty lesions of valves
93
warty lesions of valves
libman sacks pericarditis in lupus
94
libman sacks pericarditis
warty lesions of valves in lupus
95
lupus cheilitis
vermilion lower lip
96
lupus categories of signs (4)
systemic, musculoskeletal, skin, hematologic
97
lupus DIF ABs
IgM, IgG, C3
98
positive lupus band test
normal skin DIF+
99
systemic sclerosis aka and basic reason
aka scleroderma | dense collagen depostier in excess amts
100
scleroderma aka and basic reason
aka systemic sclerosis | dense collagen depostier in excess amts
101
acroosteolysis
resorption of terminal phalanges contracture --> claw-like fingers (scleroderma)
102
resorption of terminal phalanges
acroosteolysis (scleroderma)
103
hands in scleroderma
resorption of terminal phalanges (acroosteolysis) | contracture --> claw-like fingers
104
claw-like fingers 2/2 contracture
scleroderma
105
face in scleroderma
mask like facies (stiff) or mouse facies (atrophy of nasal alae)
106
mouse facies
(atrophy of nasal alae) | scleroderma
107
mask like facies
scleroderma
108
oral scleroderma 4 manifestations
microstomia, purse-string appearance, gingival recession, xerostomia
109
purse string mouth
scleroderma
110
xray scleroderma
diffuse PDL widening, resporption of bone from collagen deposit pressure
111
localized scleroderma
coup de sabre | patch of skin
112
slceroderma ABs
anti-scl-70 (topoisomerase)
113
anti-scl-70
topoisomerase | scleroderma
114
CREST syndrome components
calcinosis cutis (subQ deposition of Ca salts), Raynaud's phenomenon, Esophageal dysfx, sclerodactyly, telangiectasia
115
CREST vs HHT
CREST anti-centromere AB
116
anti-centromere AB
CREST
117
acanthosis nigricans three forms/reasons
benign malignant (GI cancers) pseudo (obesity)
118
acanthosis nigricans associations
diabetes, Addison's, hypothyroidism, acromegaly, Crouzon, corticoids, contraceptives
119
ectodermal dysplasia
2+ ectodermal structures fail to develop (skin, hair, nails, teeth, sweat glands)
120
hypohidrotic ectodermal dysplasia genetics
Xq12 - X linked, mostly men
121
features of hypohidrotic ectodermal dysplasia
reduced sweat glands, heat intolerance, sparse hair, xerostomia, periocular hyperpigmentation, midface hypoplasia (with protuberant lips)
122
teeth in hypohidrotic ectodermal dysplasia
a/oligo/hypodontia incisors tapered crown reduced molar diameter
123
ectodermal dysplasia all four ectodermal structures
odonto-onychodermal dysplasia
124
histo of ectodermal dysplasia
decreased number of sweat glands and hair follicles
125
decreased number of sweat glands and hair follicles in skin
ectodermal dysplasia
126
Xq12
hypohidrotic ectodermal dysplasia
127
WSN genetics inheritance
AD, keratin 4 or 13 (spinous layer of epithelium)
128
WSN where
white plaques cheeks, genital, nasal, anal
129
characteristic histo feature of WSN
perinuclear eosinophilic condensation - tangled mass of keratin tonofilaments
130
WSN histo picture
prominent hyperparak acanthosis clearing of c/pl of cells in spinous layer ~ leukoedema and HBID
131
tangled masses of keratin tonofilamtents
WSN - perinuclear eosinophilic condensation
132
HBID inheritance
AD - North Carolina
133
HBID manifests
oral lesions (~WSN) and eye lesions (thick plaques)
134
cell within a cell
HBID
135
HBID characteristic histo
cell within a cell
136
north carolina epithelial phenomenon
hereditary benidn intraepithelial dyskeratosis
137
lifted nails with accumulated keratin
pachyonychia congenita
138
non-nail manifestations of pachyonychia congenita
palmar plantar keratosis with callus, hyperhidrosis, blisters in soles of feet
139
oral white plaques in pachyonychia which keratins
6a or 16
140
neonatal teeth which pachyonychia keratins
6b or 17, no oral white lesions
141
pachyonychia histo
hyperparakeratosis and acanthosis with perinuclear clearing of epithelial cells
142
reticular skin pigmentation and dysplastic nails
dyskeratosis congenita
143
oral dyskeratosis conhenita
bullae on tongue and buccal mucosa --> erosions --> leukoplakia
144
malignant risks of dyskertoasis congenita
aplastic anemia and 30% SCC transformation of tongue and cheek leukoplakia in 10-30 years
145
aplastic anemia + premalignant oral leukoplakias
dyskeratosis conhenita
146
xeroderma pigemntosum inheritance and mechanism
AR trait, DNA repair gene defect
147
xeroderma pigmentosum skin lesions
many cutaneous malignancies at a very early age (1000x) actinic keratosis -- BCC -- BCC melanoma in 5%
148
oral squamous cell Ca in XP
lips, tip of tongue
149
hereditary mucoepithelial dysplasia inheritance
AD
150
hereditary mucoepithelial dysplasia non-oral manifestations
alopecia (eyebrows an dlashes), cataracts in childhood, impaired vision
151
histo hereditary mucoepithelial dysplasia
disorganized epithelial maturation, grayish c/pl vacuoles
152
fiery red mucosa
hereditary mucoepithelial dysplasia -- esp palate | also gingiva and tongue
153
fiery red palate
hereditary mucoepithelial dysplasia
154
incontinentia pigmenti sex and genetics
37:1 F:M lethal in males surviving M are either Klinefelter (XXY) or mosaic for NEMO (X;28)
155
NEMO
X;28 | incontinentia pigmenti
156
stages of incontinentia pigmenti
vesicular - 4 months, bullae on skin verrucous - 6 month, plaques on limbs hyperpigmentation (until puberty - swirling macules) atrophy and depigmentation
157
swirling hyperpigmentation
incontinentia pigmenti
158
oral incontinentia pigmenti
oligo/hypodontia delayed eruption small cone shaped teeth
159
Darier manifests
papules on trunk/scalp excess keratin w foul odor palmoplantar keratosis nail changes
160
ddx for palatal lesions of darier
inflammatory papillary hyperplasia and nicotine stomatitis
161
mechanism of darier
mutation in SERCA2 (Ca pump) | lack of cohesion of epithelial cells
162
darier histo
dyskeratosis, keratin plug overlying epithelium w a suprabasilar cleft
163
cleft in darier
suprabasilar
164
histo buzzwords for darier
test tube rete ridges | two types of dyskeratotic cells (corps ronds and grains)
165
test tube rete ridges
darier dz
166
warty dyskeratoma aka (x3)
focal acantholytic dyskeratosis follicular dyskeratoma isolted Darier's
167
warty dyskeratoma vs darier (histo)
not prominent corps ronds and grains
168
PEUTZ JEGHERS MUTATION
stk11/lkb1 ON CHR 19
169
stk1/lkb11
chr 19 | peutz jeghers
170
lesions in peutz jeghers distribution
periorificial (mouth, nose, anus, genital)
171
GI issues in peutz jeghers
intussusception (proximal telescopes into distal) | hamartomas
172
malignancy in peutz jeghers
GI, breast, panc, F GU, ovary Ca
173
hereditary hemorrhagic telangiectasia: | aka, types w sites and mutations
osler weber rendu hht1 - ENG - endoglin - lung and CNS (AV fistulas) hht2 - ALK1 (ACVRL1) - liver (AV fistulas)
174
metenier sign
easy eversion of upper eyelid in ehlers danlos
175
cigarette paper scarring
papyraceous in ehlers danlos
176
ehlers danlos w marked perio dz
type VIII
177
tuberous sclerosis triad
mental retardations, seizures, facial angiofibromas
178
tuberous sclerosis aka (x2)
epiloia | bourneville-pringle
179
tuberous sclerosis mutations
``` TSC1 (chr 9) TSC 2 (chr 16) ```
180
angiofibromas in tuberous sclerosis location
multiple papules, most in nasolabial fold areas
181
fibromas near nails
ungual/periungual fibromas similar to angiofibromas around or under margins of nails tuberous sclerosis
182
ovoid hypopigmentations
ash leaf spots 3+ reqd for tuberous sclerosis better seen w UV light
183
potato like CNS hamartomas
tubers of tuberous sclerosis
184
minor features of tuberous sclerosis
``` multiple enamel pits gingival fibromas desmoplastic fibromas renal cysts hamartomatous rectal polyps ```
185
tuberous sclerosis diagnostic criterais
2 major or 1 major and 2 minor
186
multiple hamartoma sybdrome aka and genetics
Cowden PTEN hamartoma tumor syndrome PTEN mutation (chr 10) high incidence of malignancies
187
similar to Cowden
Proeus-like, Bannayan-Riley-Ruvalcaba, and Lhermitte-Duclos
188
Cowden skin findings
skin trichilemmomas (around mouth, nosem ears) acral keratosis (warty growth on dorsal hand) palmar plantar keratosis cutaneous hemangiomas/neuromas/lipomas/xanthomas
189
organ findings in cowden
thyroid dz (follicaular adenoma/Ca), fibrocystic breast, breast Ca, benign GI polyps
190
oral findings cowden
multiple fibromas on gingiva, dorsal tongue, buccal mucosa
191
multiple trichilemmomas
cowden
192
diagnostic criteria cowden
2 of the 3: trichilemmomas oral papules acral keratosis
193
4 types of epidermolysis bullosa and assoc mutations
simplex (ker 5/14) junctional (laminin; has dental findings; death at birth) dystrophic (collagen VII, oral lesions) hemidesmosomal (attachment proteins)
194
oral findings which epidermolysis bullosa
junctional and dystrophic
195
keratin 5/14 mutation
epidermolysis bullosa simplex
196
oral fingins in dominant dystrophic epidermolysis bullosa
gingival erythema na drecession, scarring of vestibule
197
mittenlike deformity
recessive dystrophic epidermolysis bullosa
198
oral finsings in recessive dystrophic epidermolysis bullosa
scarring --> microstomia and ankyloglossia
199
subepithelial clefting at level of lamina lucida
junctional epidermolysis bullosa
200
which desmoglein in mouth
3
201
hailey hailey what is
chronic benign familial pepmhigus genetic oral lesions rare
202
age, sex, location for pemphigus
M=F 50 avg mediterranean, south asian, jewish
203
skin bullae in pemphigus
flaccid, quickly rupture
204
rounded acantholytic epithelial cells
tzanck
205
direct IF for pemphigus: reactants and look
IgG, IgM, C3 chickenwire intercellular
206
circulating AB in pemphigus
shown w indirect IF | correlate w dizsease activity
207
paraneoplastic pemhigus conditions
leukemia, lymphoma, Castleman, thymoma | often before tumor identification
208
paraneoplastic pemphigus mechanism
IL6 stimulates autoAB | T cells also
209
findings in paraneoplastic pemphigus
lip ctrusting like EM, skin lesions like LP, conjunctival scarring like pemphogoid
210
histo in paraneoplastic pemphigus
varies -- msot cases intra or subepithelial celft
211
substrate for indirect IF for paraneoplastic pemphigus
transitional epithelium, rat bladder
212
DIF in paraneoplastic pemhipgus
weak | IgG/complement intercellularly or linear at BM
213
targets of paraneoplastic pemphigus
envoplakin, periplakin, desmoplakin, desmogelin
214
mucous membrane pemphigoid aka
cicatricial pemphigoid
215
age sex for MMP
F>M | 50-60yo
216
blisters of pemphigoid
thicker and tauter than PV
217
eyes in MMP vs PV
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
entropion
inverted eyelid 2/2 scarring in MMP
219
trichiasis
rubbing eyelashes on cornea in MMP
220
pain on intercourse due to vaginal lesions
dyspareunia -- vaginal lesions of MMP
221
MMP DIF
linear band at BM against laminin 5
222
MMP indirect IF
does not work well | low levels of circulating ABs
223
linear IgA deposits
bullous dermatosis IgA depostic in basement membrane skin lesions only, in childhood
224
linear band against laminin
MMP
225
plakins are a target in
paraneoplastic pemphigus
226
desmoglein 1 is a target in
foliaceous and erythematosus pemphigus
227
desmoglein 3 is a target in
vegetans and vulgars pemphigus
228
oral lesions which desmoglein
3
229
cleft location w desmoglein 3
parabasilar
230
blood filled vesilces in soft palate
angina bullosa hemorrhagica | hx of trauma or corticaoid
231
epidermolysis bullosa acquisita mechanism
autoAB against collagen type 7 | oral and skin lesions
232
autoAB against collagen type 7
epidermolysis bullosa acquisita | oral and skin lesions
233
hx of trauma or corticaoid | blood filled vesilces in soft palate
angina bullosa hemorrhagica
234
testing for epidermolysis bullosa acquisita
skin incubated in salt solution --> artificial bulla IgG IHC postiive on connective tissue side of bulla (vs MMP)
235
gG IHC postiive on connective tissue side of bulla
epidermolysis bullosa acquisita
236
most common autoimmune blistering condition
bulloud pemphigoid
237
clinical course MMP vs bullous pemphigoid
bullous mostly skin and limited course
238
bullous pemphigoid mechanism
autoAB against BM component
239
direct IF in bullous pemphigoid
IgG and C3 in continuous linear band at BM | BP1 (180) and BP2 (230)
240
indirect IF in bullous pemphigoid - vs MMP - vs PV
positive unlike MMP | no correlation to activity unlike PV
241
erythema multiforme triggers
``` 50% preceded by infx (herpes or mycoplasma pneumoniae) or drugs (abx/analgesics) ```
242
age, duration, recurrence of EM
20-30yo self limited 2-6 weeks 20% recurrent
243
skin lesions in EM
target-like
244
EM eyes
symblepharon
245
toxic epidermal necrolysis age
older people, F>M
246
histo EM
sub or intraepithelial vesicle necrotic basal cells | mixed perivasc inflammation
247
DIF in EM
not helpful | but granular C3 around blood vessels highly suggestive
248
granular C3 around blood vessels highly suggestive of
EM - DIF
249
erythema migrans assoc w
fissured tongue | and psoriasis
250
erythema mugrans histo
``` psoriasiform mucositis Munro abscesses (collections of n/ph in epith) ```
251
Munro abscesses
collections of n/ph in epith | erythema mugrans and psoriasis
252
erythema migrans genetics
HLA-CW6 | both erythema migrans and psoriasis
253
psoriasis genetics
HLA-CW6 | both erythema migrans and psoriasis
254
reactive arthritis aka and triad
reiter's syndrome | nongonococcal urethritis, arthritis, conjunctivitis
255
triggers and genetics of reactive arthritics
dysentery or STD HLA-B27 seen in HIV+ 9:1 M:F
256
erythema migrans on glans penis
balanitis circinata | in Reiter's
257
glans penis in reiters
balanitis circinata (similar to erythema migrans)
258
balanitis circinata
erythema migrans on glans penis in Reiter's
259
skin in reiter's
psoriasiform lesions
260
oral lesions in reiters
varied: papules, painless ulcers, geographic tongue
261
histo of oral lesions in reiters
~ psoriasis (with munro abscesses)
262
purple pruritic polygonal papules
lichen planus | flexor surfaces of extremities
263
4 histo features of lichen planus
``` 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
lichen planus DIF and IIF
DIF: deposition of fibrinogen in BM IIF: negative both nonspecific
265
lichen sclerosus et atrophicus possible association and cause
cause unknown | could be assoc w thyroid dz
266
lichen sclerosus et atrophicus look and demographic
white patches on skin, which may cause scarring on and around genital skin 10:1 F:M, esp after menopause
267
white patches on skin, which may cause scarring on and around genital skin
lichen sclerosus et atrophicus
268
lichenoid infiltratem sclerosis of connective tissue (~ amyloidosis or scleroderma), edema of upper dermis, hydropic degeneration of cells and atrophy of epithelium
lichen sclerosus et atrophicus
269
chronic ulcerative stomatitis AB and look
autoAB against p63-like protein similar to ELP but no striae
270
chronic ulcerative stomatitis tx
does not respond to corticoids | responds to antimalarials (hydroxychloroquine)
271
DIF chronic ulcerative stomatitis
speckled finely granular IgG in nuclei of basal and parabasal cells (basal 1/3)
272
speckled finely granular IgG in nuclei of basal and parabasal cells on DIF
chronic ulcerative stomatitis
273
indirect IF chronic ulcerative stomatitis
SES-ANA+ in basal and parabasal | in SLE and scleroderma ANA + in entire epithelium
274
SES-ANA+ in basal and parabasal
chronic ulcerative stomatitis IIF | in SLE and scleroderma ANA + in entire epithelium
275
dermatitis herpetiformis aka and assoc
Duhring-Brocq dz 90% of pts have gluten-sensitive enteropathy 15-25% of pts w celiac dz develop dermatitis herpetiformis
276
dermatitis herpetiformis clinical
grouped excoriations erythematous urticarial plaques papules w vesicles
277
grouped excoriations and erythematous urticarial plaques in pt w celiac
dermatitis herpetiformis
278
dermatitis herpetiformis histo
n/ph in dermal papillae fibrin deposition and edema papillary microabscesses form and progress to subepidermal vacuolization and vesicle formation
279
n/ph in dermal papillae --> microabscesses
dermatitis herpetiformis
280
dermatitis herpetiformis DIF
IgA in a granular pattern in upper papillary dermis
281
IgA in a granular pattern in upper papillary dermis DIF
dermatitis herpetiformis
282
GVHD who prone and why
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
cyclosporine target, origin, mechanism
acts primarily on T cells natural fungal metabolite inhibits cell mediated immunity
284
acute vs chronic GVHD | timeline and presentation similar to
acute: <100 days, ~TEN | chronic 100+ days, ~SLE, SS, or cirrhosis
285
oral GVHD similar to and other notes
~ LP may form ulcers (r/o HSV, SCC) xerostomia
286
GVHD immunomodulating prevention
AB against CD52 (depletes T lymphocytes)
287
action of anti-CD52 AB
depletes T lymphocytes | used for GVHD prevention
288
psoriasis what is and contributing factors
increased proliferation of keratinocytes | T lymphocytes and genetic contribute
289
symmetric erythematous plaques w silvery scale
psoriasis
290
psoriasis locations
symmetric erythematous plaques w silvery scale | scalp, elbows, knees
291
TMJ involvement in psoriasis
psoriatic arthritis
292
psoriatic arhritis how common
in 10% of pts | including TMJ
293
small pinpoint bleeding when scales are removed
Auspitz sign -- psoriasis
294
Auspitz sign
small pinpoint bleeding when psoriatic scales are removed
295
most common collagen vascular or connective tissue dz in US
lupus erythematosus
296
types of lupus erythematosus
systemic, chronic cutaneous (discoid), and subacute cutaneous
297
systemic lupus erythematosus demographic
10x females, ~30yo
298
classic face of lupus erythematosus
butterfly rash over malar and nose | ddx erysipelas, melasma
299
most common cause of death in lupus
kidney failure
300
heart in lupus | emboli?
libman-sacks endocarditis warty lesions of valves 2/2 accumulation of immune complexes and mononucler cells only rarely cause emboli
301
oral SLE similar to
ELP | non specific and granulomatous
302
lupus involving lip - where?
lupus cheilitis - vermilion lower lip
303
signs of systemic lupus
systemic: fatigue, weight loss musculoskeletal (arthralgia skin: rashes, oral lesions hematologic: anemia, leukopenia
304
CCLE manifest and aka
limited to skin or mucosa erythematous patches on sun-exposed skin heal w scarring and hypopigmentation and them migrate aka discoid lupus
305
oral CCLE similar to and different how
oral lesions similar to ELP but almost always also have skin lesions
306
subacute LE vs others
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
lupus skin histo
keratin follicular plugging degeneration of basal layer aggregates of inflammation in CT, perivascular in deeper CT
308
oral lupus histo vs LP
similar but has PAS+ material in basement membrane, subepithelial edema (may form vesicle) and more diffuse, deep inflammatory infiltrate (often perivascular)
309
DIF lupus
IgM, IgG, C3 in shaggy or granular band at BM
310
positive lupus band test
normal skin with positive lupus DIF also seen in rheum arthritis, systemic sclerosis, and sjogrens not in all pts
311
indirect IF lupus
95% ANA+ (>640) - sensitive but not specific dsDNA+ Sm (SLE specific)
312
SLE speicific AB
Sm
313
systemic sclerosis aka, what is, demographics
aka scleroderma, Hide-Bound dz excessive dense collagen deposited in tissues 5x F
314
Raynaud's phenomenon
vasoconstriction triggered by stress or cold
315
acro-osteolysis
resorption of terminal phalanges and contracture --> claw like fingers ulceration of finger tips think scleroderma
316
resorption of terminal phalanges and contracture
acro-osteolysis | think scleroderma
317
face of systemic sclerosis
mask like (stiff skin) or mouse (atrophy of nasal alae)
318
what gives mouse face
atrophy of nasal alaw in systemic sclerosis
319
lungs in systemic sclerosis
pulmonar fibrosis --> pulm HTN and heart failure --> death
320
GI in systemic sclerosis
esophageal dysfx --> GE reflux
321
oral systemic sclerosis
microstomia (lip rigidity), purse-strong appearance, gingival recession, xerostomia, SG enlargement and dysphagia collagen deposition in tongue --> firm in immobile
322
systemic sclerosis radiology
diffuse widening of PDL resorption of bone (post MD, coronoid process, condyle, chin) 2/2 collagen deposits pressure also tooth resorption
323
localized scleroderma aka and look
morphea affects only a single patch of skin en coup de sabre scar
324
en coup de sabre scar
localized scleroderma aka morphea | affects only a single patch of skin
325
histo scleroderma and ddx
diffuse collage depostiion | ddx: amyloidosis and plasminogen deficiency
326
systemic sclerosis lavs
anti-sc170 (topoisomerase I)
327
anti-sc170 aka and what
systemic sclerosis | topoisomerase I
328
topoisomerase I
systemic sclerosis | anti-sc170
329
tx for systemic sclerosis
no optimal | penicillamine to inhibit collagen
330
inhibiting collagen w systemic sclerosis
penicillamine
331
CREST vs morphea
CREST = limited scleroderma | morphea - localized
332
localized vs limited scleroderma
CREST = limited scleroderma | morphea - localized
333
CREST components
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
CREST dx
anticentromere AB if telangiectasias present and no other signs or history
335
anticentromere AB
CREST dx if telangiectasias present and no other signs or history
336
systemic risks of CREST
pulmonary HTN and cirrhosis
337
forms of acanthosis nigricans
benign malignant (GI adenoCa, usually simult) pseudo (obese ppl)
338
benign acanthosis nigricans conditions (7)
diabetes, Addison's, hypothyroid, acromegaly, Crouzon, corticoids, contraceptives
339
location and look of acanthosis nigricans
leathery texture, flexural areas
340
oral acanthosis nigricans when and where
esp in malignant form | diffuse finely papillary areas, often tongue and upper lip
341
acanthosis nigricans histo
hyperorthokeratosis and papillomatosis skin -- melanin but little acanthosis oral - acanthosis but little melanin
342
ectodermal dysplasia and assoc genetic hypothesis
X linked | Lyon hypothesis -- inactivation
343
high fever baby no infx
consider reduced sweat glands 2/2 ectodermal dysplasia
344
HBID vs WSN
HBID gelationous plaques of bulbar conjunctiva adjacent to cornea
345
hyperhidrosis inherited reason
pachyonychia congenita
346
meissner corpuscles receptor for
touch (tactoid bodies)
347
touch mechanoreceptors
meissner
348
pacinian corpuscles receptor for
pressure
349
pressure mechanoreceptors
pacinian
350
free nerve endings receptors for
pain
351
pain mechanoreceptors in skin
free nerve endings
352
dyskeratosis congenita injertiance
XLR
353
skin pigmentation on face, neck, upper chest and premalignant leukoplakias
dyskeratosis congenita
354
skin in dyskeratosis congenita
pigmentation on face, neck, upper chest
355
xeroderma pigmentosum inheritance and mechanism
AR | excision repair or post replication repair mechanism of DNA
356
excision repair or post replication repair mechanism of DNA
xeroderma pigmentosum
357
risks of xeroderma
10,000x more prone to malignancy actinic keratosis, BCC< SCC before 20yo
358
SCC of xeroderma
lower lip and tip of tongue
359
fiery red erythema of palate
hereditary mucoepithelial dysplasia
360
hereditary mucoepithelial dysplasia inheritance
AD
361
incontinentia pigmenti inheritance and demographic
X linked dominant | mostly F or mosaic/Klinefelters M
362
incontinentia pigmenti affects three organs/systems:
skin, eye, CNS
363
darier dz in mouth sites
hard palate and alveolar ridge
364
peutz jeghers inheritance, genetics and genetic product
ad | stk11 (lkb1) - encodes serine/threonine kinase on chr 19
365
stk11 aka, chromosome, gene product, condition
aka lkb1 serine/threonine kinase on chr 19 peutz jeghers
366
lkb1 aka, chromosome, gene product, condition
aka stk11 serine/threonine kinase on chr 19 peutz jeghers
367
peutz jeghers freckles in the sun
no change
368
crippled cigar skin in response to trauma
papyraceous scarring, ehlers danlos
369
tongue reaches nose
gorlin sign, ehlers danlose
370
location of angiofibromas in tuberous sclerosis
nasolabial fold
371
angiofibromas in nasolabial folds
tuberous sclerosis
372
shark skin hamartoma
shagreen patch, tuberous sclerosis -- TRUNK
373
ash leaf spot and test
hypopigmentation in tuberous sclerosis | wood's lamp (UV) test
374
5 minor criteria for tuberous sclerosis
``` enamel pits gingival fibromas (partly 2/2 phenytoin) bone cysts renal cysts rectal hamartoma polyps ```
375
criteria for tuberous sclerosis diagnosis
2 major | 1 major + 2 minor
376
cowden genetics and product
PTEN on chr 10 | phosphate and tensin homolog deletion
377
PTEN location and condition
chr 10 phosphate and tensin homolog cowden syndrome
378
bronchiolitis obliterans
in paranoplastic pemphigus, lung epithelium sloughing and occlusion
379
non neoplastic condition w paraneoplastic pemphigus
angiofollicular lymph node hyperplasia - Castelman disease
380
basement membrane cleft at lamina lucida
junctional epidermolysis bullosa
381
VII collagen defect
epidermolysis bullosa dystrophic and acquisita
382
mittenlike scarring
epidermolysis bullosa recessive dystrophic
383
keratin 4/15 defect
epidermolysis bullosa simplex
384
type XVII collagen defect
epidermolysis bullosa junctional
385
what is kindlin
hemidesmosomal attachment protein | kindler epidermolysis bullosa
386
which epidermolysis increased SCC risk
epidermolysis bullosa recessive dystrophic
387
cytokine of paraneoplastic pemhipgus
IL 6
388
artificial bulla in saline test for what
epidermolysis bullosa acquisita | collagen VII lights up on connective tissue side of artificial bulla
389
immunoreactants for severe MMP
IgG + IgA
390
primary DIF immunoreactants of MMP
IgG and C3 | IgM and IgA also poss
391
3 ocular terms in MMP
symblepharon (adhesion in eye) trichiasis -- eyelids rub against each other entropion eyelids invert
392
bullous pemphigoid molecular targets and location
bp180 (upper portion of lamina lucida) | bp230
393
bp180
bullous pemphigoid target
394
most common autoimmune blistering condition
bullous pemphigoid
395
toxic epidermal necrolysis aka
Lyell's syndrome
396
Lyell's syndrome
toxic epidermal necrolysis
397
munro abscesses seen in
geographic tongue and psoriasis
398
brooke spiegler syndrome aka, triad, inheritance, genetics
(Multiple familial trichoepithelioma=MFT) 1) Trichoepithelioma 2) Cylindroma 3) Spiradenoma AD MFT 1 - chr16 q12-q13 MFT2 - chr 9 p21
399
1) Trichoepithelioma 2) Cylindroma 3) Spiradenoma
brooke spiegler syndrome aka Multiple familial trichoepithelioma=MFT
400
seronegative spondylartropathies (6)
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
Group of disorders +Positive HLA-B27, -negative RF, ANA
seronegative spondylartropathies
402
butterfly rash
50% of SLE | spareas nasolabial fold
403
follicular plugging
CCLE skin lesions -- keartin in follicle orifices
404
Libman-Sacks endocarditis:
50% in SLE have warty vegetations affecting heart valves
405
warty vegetations affecting heart valves
Libman-Sacks endocarditis: | 50% of SLE pts
406
lupus cheilitis location
lower vermillion lip
407
discoid lupus
CCLE
408
positive lupus band test
DIF Shaggy granular at basement membrane zone IgM, IgG, C3 SLE, RA , Sjogren Syndrome, Systemic Sclerosis (Scleroderma)
409
most specific AB in lupus
Sm - 30% of pts are positive
410
how many lupus pts are ANA+
95% but not v specific
411
how many SLE pts are anti-dsDNA +
70%
412
pinched ala of nose
mouse facies | systemic sclerosis
413
purse string
limited mouth opening | systemic sclerosis
414
acro-osteolysis
Resorption of terminal phalanges | systemic sclerosis
415
morphea
Localized scleroderma | En coup de sabre: scar like
416
limited vs diffuse cutaneous systemic sclerosis
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
CREST components
``` Calcinosis cutis Raynaud phenomenon Esophageal dysfunction Sclerodactyly Telangiectasia ```
418
acanthosis nigricans nature, location, oral location
Acquired / Flexure areas / lip, tongue , BM
419
what is malignant acanthosis nigricans
usually GI cancer
420
benign acanthosis nigricans seen with (x6)
``` o DI o Addison o Acromegaly o Hypothyroidism o Crouzon syndrome o Drugs (steroids, contraceptices) ```
421
pachyonychia malignant potential and inheritance
none (leukoplakias w type 6a) | AD
422
dyskeratosis congenita malignant potential and inheritance
yes, leukoplakias | XLR --> M
423
xeroderma malignant potential and inheritance
10,000 more prone to non-melanoma skin ca melanoma in 5% AR
424
hereditary mucoepithelial dysplasia malignant potential an dinheritance
no | AD
425
incontinentia pigmenti malignant potential and inheritance
no | XLD --> F
426
age for Darier vs warty dyskeratoma
Darier 1-2 decade | Warty >40yrs M
427
peutz jeghers malignant potential, inheritance, genetics
10-18x more common but not from the hamartomatous polyps STK11/LKB1 tumor suppressor serine/threonine kinase Chr 19p13.3
428
HHT types and genetics
``` 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
HHT diagnostic criteria
``` Criteria : Must have 3 out of 4 1- Recurrent spontaneous Epistaxis 2- AV in lungs, liver, CNS 3- Telangiectasia 4- Family Hx HHT ```
430
HHT malignant potential and inheritance
rectal carcinoma if with juvenile polyposis all types AD
431
which ehlers danlos has perio problems
type VIII
432
which tuberous sclerosis has more severe expression
TSC2 - Chr 16
433
PTEN chromosome
10
434
cancers in Cowden
at least thyroid and breast (benign and malignant hamartomas)
435
inheritance of dystrophic epidermolysis bullosa
both AD and AR | recessive most severe
436
inheritance of epidermolysis bullosa types:
simplex AD junctional AR dystrophic AD and AR

OP - Yield (19 decks)

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