Connective Tissue Diseases Flashcards
(144 cards)
1
Q
DLE antibody
A
Anti-smith
2
Q
Histo of DLE
A
interface dermatitis with lymphocytes
follicular plugging
perivascular and periadnexal infiltrate
increased mucin
3
Q
DIF of DLE
A
continuous granular deposits of Ig and complement at DEJ
4
Q
Where to biopsy DLE
A
Established lesional skin, but not burned-out scar
5
Q
Lupus vulgaris
A
Cutaneous TB
6
Q
DLE Treatment
A
First line: Sunscreen, Topical/IL steroids, Topical immunosuppressants
Second line: antimalarials, syst retinoids
Third line: cytotoxic agents, thalidomide, abx
7
Q
Subacute LE Antibody
A
80% ANA +, speckled pattern
70% Ro/SSA +
8
Q
HLA associated with SCLE
A
HLA-DR3
9
Q
Drug-Induced SCLE
A
HANG NAIL HCTZ ACE-I and Antihistamines NSAIDs Griseofulvin Nifedipine Anticonvulsants Interferons Lamisil
10
Q
Antibody in neonatal lupus
A
Ro/SSA
11
Q
Antibody in neonatal lupus that spares congenital heart block
A
U1RNP
12
Q
C4 deficiency
A
hyperkeratosis palms and soles
annular SCLE lesions
homozygous = SLE, mesangial glomerulonephritis, membranous nephropathy
13
Q
Homozygous C2 deficiency
A
severe infections
SLE
atherosclerosis
14
Q
SLE ACR Criteria
A
SOAP BRAIN MD (4+ criteria for dx) Sun sensitivity Oral ulcers Arthritis Pleuritis, pericarditis Blood (hemolytic anemia, thrombocytopenia, leukopenia) Renal ds ANA+ Immunologic (anti-dsDNA, anti-Smith, antiphospholipid) Neuro (seizures, psychosis) Malar rash Discoid rash
15
Q
Rowell syndrome
A
SLE with erythema multiforme-like lesions
16
Q
ASAP syndrome
A
Acute Syndrome of Apoptotic Pan-Epidermolysis associated with SLE
17
Q
Bullous SLE HLA association
A
HLA-DR2
18
Q
Bullous SLE antibodies
A
Type VII collagen antibodies
19
Q
Bullous SLE histo
A
neutrophils at DEJ within dermal papillae
20
Q
Bullous SLE treatment
A
Dapsone
21
Q
Sneddon syndrome
A
AD in young women
livedo reticularis + cerebrovascular infarcts
due to hyalinaizing vasculopathy
may also have SLE
22
Q
Hughes syndrome
A
antiphospholipid syndrome phenotype
23
Q
SLE histo
A
vacuolar interface
mucinous
24
Q
Antibodies specific for nephritis in SLE
A
anti-dsDNA, anti-C1q
25
Antibody for drug-induced SLE
antihistone
26
Drugs associated with drug-induced SLE
```
MMC is HIPP
Methyldopa
Minocycline
Chlorpromazine
Hydralazine
Isoniazid
Procainamide
Phenytoin
also TNF-alpha inhibitors induce ANA positivity
Penacillamine unmasks SLE
```
27
DIF of SLE
granular IgG +/- IgM at DEJ
Lupus band
negative does not exclude diagnosis
non-lesional sun-exposed skin for bx
28
Gottron's sign vs Gottron's papules
```
Sign = violaceous atrophic patches of knuckles, knees, elbows
Papules = lichenoid polygonal papules on knuckles
```
29
Cutaneous findings of Dermatomyositis
```
Heliotrope rash
Gottron's sign
Gottron's papules
Poikiloderma (holster sign)
Shawl sign
Proximal nail fold telangiectasias
Ragged cuticles/mechanics hands
Calcinosis cutis
```
30
Antibodies of dermatomyositis
anti-Jo1 (antisynthetase) = reynaud's, mechanic hands, interstitial lung ds
ANA 60-80%
anti-Mi-2 (anti-nuclear helicase) = good prognosis, shawl sign
31
Site of muscle biopsy for dermatomyositis
tricep or quad (not deltoid)
32
Markers to follow in dermatomyositis
CK, aldolase, ESR
33
Two types of childhood dermatomyositis
Brunsting (mc) = weakness, calcinosis, steroid responsive
| Banker = vasculitis, GI, steroid unresponsive, high mortality
34
Childhood dermatomyositis gene
DQA1*0501
35
Dermatomyositis histo
atrophic epidermis
BMZ thickening
dermal mucin
perivascular and periadnexal lymphocytic infiltrate
36
Dermatomyositis Treatment
Prednisone 1mg/kg/day, slow long taper
| methotrexate, myophenolate mofetil, azathioprine, IVIG, cyclosporin, tacrolimus, infliximab
37
Generalized morphea antibodies
antihistone (87%), anti-ssDNA
38
Anti-histone antibodies
generalized morphea, drug-induced SLE
39
Morphea histo
squared biopsy
atrophic epidermis
broad hyalinzed collagen bundles
lymphocytes and plasma cells
40
Atrophoderma of Pasini and Pierini presentation
brownish-gray, oval, atrophic lesions on posterior trunk of young women
Cliff drop sign
Asx
41
Risk of not treating morphea in children
impede limb development
42
Parry-Romberg Syndrome presentation
```
progressive hemifacial atrophy
epilepsy
exopthalmos
alopecia
hyperpigmentation followed by atrophy of dermis, SQ, fat, muscle, sometimes bone
```
43
Parry-Romberg Syndrome antibodies
anti-ssDNA
44
CREST antibody
anticentromere
45
Systemic sclerosis major and 3 minor criteria
Major: proximal scleroderma to MCP
Minor: sclerodactyly, digital pitting scars, b/l basilar pulm fibrosis
46
Pterygium inversum unguis
distal nailbed adherent to ventral nail plate in scleroderma
47
Systemic sclerosis antibodies
anti-topoisomerase (anti Scl-70)
ANA - antinucleolar
anti-RNP (raynaud, polyarthralgia)
48
Major cause of death in systemic sclerosis
Pulmonary disease
49
Systemic sclerosis histo
perivascular lymphocytic infiltrate with plasma cells at dermis-SQ junction
hyalinized collagen bundles
dermal sclerosis
loss of SQ fat
"pepper-dot" epidermal nuclear reaction in centromere positive
loss of CD34+ dendritic cells
50
Three possible causes of scleroderma
Borrelia infection
Genetic susceptibility: Fibrillin-1
Exposures: L-tryptophan, rapeseed oil
51
Scleroderma treatment
PT, quit smoking
UVA1
D-penicillamine
system specific therapies: nifedipine, ACE-I
52
Eosinophilic fasciitis presentation
after strenuous exercise
peau d'orange or pseudo-cellulite skin
"groove sign" or "dry river bed sign"
eosinophilia
53
Eosinophilic fasciitis labs
ESR, TGF-alpha1, eosinophilia
54
Eosinophilic fasciitis histo
patchy lymphohistiocytic & plasma cell infiltrate in fascia and muscle
thickening of fascia and SQ septae
55
Eosinophilic fasciitis treatment
systemic steroids, histamine blockers
| usually complete recovery in 1-3 years
56
Another name for Mixed Connective Tissue Disease
Sharp's Syndrome
57
Mixed connective tissue disease presentation
```
scleroderma, LE, DM, RA features
hand edema (sausage digits), Raynaud's, arthritis, pulm ds
```
58
Mixed connective tissue disease antibodies
ANA with particulate/speckled pattern
| anti-U1 RNP
59
MCTD treatment
prednisone 1mg/kg
60
Nephrogenic systemic fibrosis presentation
hemodialysis
| thickened, sclerotic, edematous papules/plaques sparing face
61
Nephrogenic systemic fibrosis histo
spindle cells, new collagen bundles
| no plasma cells
62
Nephrogenic systemic fibrosis stain
CD34+
63
Stiff skin syndrome gene mutation
Fibrillin-1 gene
64
Stiff skin syndrome presentation
'rock hard' skin, esp buttocks/thighs
spares inguinal fold
no internal involvement
65
Other names for Sjogren syndrome
Sicca syndrome, Mikulicz disease
66
What are the forms of chronic cutaneous lupus
Discoid, hypertrophic, LE-LP overlap, Chilblain, Tumid, Lupus panniculitis
67
Who does DLE most commonly affect
African American women (2:1), young adults
68
What does Langue au chat refer to
cat's tongue - carpet tack like follicular plugging that occurs in DLE
69
What is the most common location for DLE to occur
Above the neck - concha bowl and scalp
70
What do you need to worry about in long standing DLE
SCC
71
Childhood DLE has a higher progression to?
SLE. Childhood DLE has equal incidence M:F
72
What percentage of patients with DLE have SLE
5-15%
73
What percentage of SLE patients have DLE
25%
74
What percentage of patients with DLE will have a positive DIF on histology
75%
75
LE-LP overlap syndrome most commonly affects what anatomical area
palmoplantar involvement. Also oral with scarring alopecia
76
What mutation has been reported in familial forms of chilblain lupus?
TREX1 mutation
77
How often does tumid lupus have overlying epidermal involvement?
Never
78
Tumid lupus is considered an overlap with what other disease entities?
REM (reticular erythematous mucinosis) and jessner’s lymphocytic infiltrate
79
What percentage of patients with tumid lupus will eventually develop SLE?
50%
80
What percentage of patients with tumid lupus will have overlying DLE?
1/3
81
What anatomical area does lupus panniculitis usually spare?
distal extremities
82
What percentage of patients with SCLE will have SLE?
30%
83
What percentage of patients with SCLE will have a positive ANA?
80%
84
What antibody is often present in 70% of SCLE patients?
Ro/SSA
85
10-15% of SCLE pts develop internal symptoms, what do these include?
Arthritis, leukopenia, renal, CNS, and vascular complications
86
What is the common clinical description of SCLE lesions?
Sun exposed scaly, annular plaques in white women (15-40)
87
30% of SCLE cases are drug-induced, what are the common causes?
HANG NAIL – HCTZ, ACE-I, NSAIDs, Griseofulvin, Nifedipine (CCBs), Anticonvulsants, Interferon, Lamisil
88
What is the most important treatment for both DLE and SCLE?
Sunscreen
89
Neonatal lupus is due to transferring of ___ antibody across placenta from affected mothers
Ro/SSA antibody
90
What is the risk that a second child will have neonatal lupus?
25%
91
What medication can lower the risk of neonatal lupus ~ 7% if initiated prior to 10 weeks gestation?
Hydroxychloroquine
92
What is the most serious complication associated with neonatal lupus?
Congenital heart block
93
If only __ ab is present in neonatal lupus, then there is no risk of heart block?
U1RNP
94
What are the other associations important in neonatal lupus?
thrombocytopenia, hepatobiliary disease
95
What is the clinical presentation seen in neonatal lupus?
periocular edema and erythema (‘raccoon’s eyes’) – none at birth, presents in first few weeks of life
96
Who does SLE affect?
Young to middle aged women (6:1), and African Americans (4:1)
97
Name the 11 criteria for SLE?
SOAP BRAIN MD – Serositis, Oral ulcerations, Arthritis, Pleuritis, Blood abnormalities (thrombocytopenia, leukopenia), Renal abnormalities (proteinuria), +ANA, Immunological abnormalities, Neurological abnormalities, Malar Rash, Discoid lesions
98
What is Rowell Syndrome?
EM-like lesions occurring in Lupus
99
What does ASAP syndrome stand for and what is its significance?
Acute Syndrome of Apoptotic Pan-Epidermolysis – TEN like presentation seen in SLE
100
What does Bullous SLE attack? HLA associated?
Type VII Collagen – HLA DR2 prominence
101
What medication does bullous SLE respond well to?
Dapsone
102
What is Sneddon Syndrome?
Livedo reticularis, cerebrovascular infarcts, HTN ( may have SLE)
103
What immunologic markers are specific for renal disease in SLE patients?
Anti-dsDNA, and anti-C1q
104
What are the medications implicated in drug-induced SLE?
HIP MMC – Hydralazine, Isoniazid, Procainamide, Phenytoin, Minocycline, Methyldopa, Chlorpromazine
105
What medication unmasks true SLE?
Penicillamine
106
What is the age distribution seen in DM?
Bimodal – children (10-15 years old) and adults (40-65)
107
Inflammatory muscle involvement without skin involvement is known as?
Polymyositis
108
In DM, skin findings usually precede muscle findings by how long?
2-3 months
109
T/F: Bullous DM is a good prognositic feature?
False – poor prognostic indicator – severe myopathy with lung disease
110
What is the most important clinical feature seen in DM?
Poikiloderma
111
Mechanic’s hands are associated with what antibodies?
anti-synthetase antibodies – indicated pulmonary involvement
112
What labs do you want to check in your DM patients?
Aldolase, Creatine Kinase (PFT’s w/ CT if symptomatic, MRI with muscle biopsy if labs are positive)
113
Where should patients have their muscle biopsies from?
triceps (as deltoids may not show histologic evidence of myopathy until later in the disease)
114
Anti-Ku antibody is seen in what overlap syndrome?
Scleroderma and DM
115
Anti-synthetase antibodies (Anti-Jo1, anti-PL7, anti-PL12, anti-DJ, anti-EJ) correlate with what?
interstitial lung disease in DM
116
What are the most common malignancies seen in DM (10-50% of cases) in men, women, and asian men?
Men: Colon, Women: Ovarian, Asian: Nasopharyngeal
117
What are the two types of childhood DM?
Brunsting (slow course, progressive weakness, calcinosis, steroid responsiveness)
Banker Type (vasculitis of muscles and GI tract, rapid onset, steroid unresponsive, and high death rate)
118
T/F: Is there an increase in malignancy in childhood DM?
False – no increase in malignancy. Also noted to have an increase in calcinosis cutis.
119
Anti-Mi2 has what type of prognosis in DM?
Good prognosis – shawl sign, cuticular disease
120
Anti-CADM5 is associated with?
Interstitial lung disease in Japanese in DM
121
Anti-p155/140 is associated with?
Cancer in DM – palmar involvement noted w/ this
122
What antibodies are associated with generalized morphea?
Anti-histone, and anti-ssDNA
123
What is Parry Romberg Syndrome?
Progressive hemifacial atrophy, epilepsy, exophthalmos, alopecia
124
CREST Syndrome is a form of localized systemic sclerosis. What clinical features in seen in CREST?
CREST; C-calcinosis, R-Raynaud’s, E-esophageal dysmotility, S- sclerodactyly, T - telangiectasias
125
What antibodies are seen in CREST syndrome?
Anticentromere ab
126
What criteria is needed for diagnosis of Systemic Sclerosis:
1 major or 2 minor; Major: proximal scleroderma to MCP joints, Minor: Sclerodactyly, digital pitting scars of fingertips, b/l basilar pulmonary fibrosis
127
What is the terms of the distal nailbed adhering to the ventral nail plate?
Pterygium inversum unguis
128
What antibody is associated with systemic sclerosis?
anti-topoisomerase Scl-70
129
Exposure to what other agents have resulted in scleroderma like reactions?
L-tryptophan, contaminated rapeseed (toxic oil syndrome), silicosis, bleomycin, vinyl chloride
130
What organ is most commonly involved in systemic sclerosis?
esophagus (90%)
131
What is the major cause of death in systemic sclerosis
pulmonary disease
132
Groove sign, or dry river bed sign is seen in what disease?
Eosinophilic Fasciitis
133
T/F: Do you have to seen eosinophils on H&E for diagnosis of eosinophilic fasciitis
False – also, only 10-40% of cases have peripheral eosinophilia
134
What is Sharp’s syndrome?
Mixed Connective Tissue Disease – severe arthritis, hand edema (sausage digits), raynaud’s, esophageal dysmotility, pulmonary fibrosis (MC cause of death), lymphadenopathy
135
What is the most common antibody seen in MCTD?
U1RNP
136
Nephrogenic systemic fibrosis is often seen in what patients?
Patients on hemodialysis or pts recently exposed to gadalinium
137
In the new scoring system, what histologic feature has the most points allocated for nephrogenic systemic fibrosis?
osseous metaplasia
138
Stiff skin syndrome has been associated with what gene mutation?
Fibrillin -1 (also been implicated in systemic sclerosis) – sparing of inguinal folds
139
What clinical features are seen in Sjogren syndrome?
Primary: xerostomia, keratoconjunctivits sicca; Secondary: 2 items mentioned + autoimmune connective tissue disease
140
What association is most concerning with Sjogren’s syndrome?
Assoication with Non-hodgkin’s lymphoma
141
What is the most definitive diagnostic tool for Sjogren?
Lower labial lip salivary gland biopsy
142
What is the Schirmer test?
Whatman paper applied to the lower eyelid. Migration <5 mm over 5 min is abnormal
143
80% of patients with Sjogren syndrome have what antibody?
Anti-Ro/SS-A
144
What is MAGIC syndrome?
Behcet’s disease and relapsing polychondritis – directed against type-II collagen antibodies
