Connective tissue disease Dan Flashcards Preview

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Flashcards in Connective tissue disease Dan Deck (150):
1

T/F
In dermatomyositis children get more contractures and calcinosis but better prognosis

True
also get more vasculitis

2

T/F
Raynauds disease may ulcerate

False
Raynauds doesn’t ulcerate
scleroderma with Raynauds often ulcerated in fingertips though

3

Sjogren's is the most common CTD

False
second most common after RA

4

Sjogren's has more than 10x increased risk of lymphoma

True
16 - 40x increased risk lymphoma
esp non-Hodgkin B cell

5

T/F
nipples and areolae are spared in generalized morphoea

True

6

T/F
There is an association between Silicone Breast Implants and autoimmune disease

False

7

What are the ARA diagnostic criteria for SLE?

Need 4 out of 11 features
MD SOAP BRAIN
Malar rash
Discoid rash
Serositis such as pleuritis or pericarditis
Oral ulcers
Arthritis (usually oligo or polyarticular)
Photosensitivity
Blood dyscrazias: hemolytic anaemia, leukopenia, lymphopenia, and thrombocytopenia
enal involvement with nephrotic picture – persistent proteinuria (>0.5g/day) or cellular casts
ANA (95% of patients)
mmunological abnormalities such as Anti-Sm, Anti-dsDNA, Anti-phospholipid, false positive syphilis serology
Neurological/Psych: mainly seizures and psychosis

8

What drugs can flare/unmask SLE

griseofulvin
itraconazole
beta blockers
sulphonamides
testosterone
oestrogens
TNFalpha blockers
Penicillamine

9

T/F
Scleroderma means the same as sclerodermoid

True
However usually scleroderma is used to mean an form of systemic sclerosis and sclerodermoid is used for skin tightening changes

10

T/F
Skin changes occur in only a small proportion of scleroderma cases

False
Skin changes are usually prominent in all forms of SSc
Pts who present w/ Raynauds, internal disease and serology but no skin disease is called 'systemic sclerosis sine scleroderma’

11

T/F
The pathoaetiology of SSc involves the following 3 features;
Tissue fibrosis
Vascular dysfunction
Immune dysregulation (Th2 profile)

True

12

T/F
SSc is twice as common in women

False
4x more in women
NB SLE 8x more in women

13

T/F
Black people rarely develop SSc

False
earlier onset and more likely to be diffuse Dx in blacks

14

T/F
SSc can affect children

True
rare

15

T/F
An affected family member confers a 10x increased risk of developing SSc

True

16

T/F
Internal organ disease doesnt occur in limited SSc

False
can occur but usually after decades of disease
Joints and oesophagus most common
then small bowel disease
then lung fibrosis, Proximal myopathy, Sicca syndrome and pulmonary HTN

17

T/F
Raynauds and sclerodactyly mean pt most likely has SSc

False
sclerodactyly commonly occurs in Raynauds
Only 1 in 25 pts with Raynauds and sclerodactyly will develop SSc
In SSc the scleroerma extends proximally beyond the MCPJs - this is critical
Check nailfold capillaries for changes and test for serology to help identify SSc

18

What are the stages of hand changes in SSc?

Oedematous
Indurated - taught and shiny
Atrophic - thin skin
- most often start with pitting oedema of hands

19

What are the facial changes in scleroderma?

Skin tightening - loss of wrinkles; look youthful
microstomia with perioral fissures
beaked nose

20

What are the ARA diagnostic criteria for scleroderma?

Need to have either 1 or 2;
1) Symmetrical cutnaoeus sclerodermid change proximal to the knuckles or MTPJs of feet
2) Any 2 of;
Sclerodactyly
Digital pitted scarring
Bibasal pulmonary fibrosis

21

T/F
In diffuse SSc there is usually widespread skin involvement

True
and nearly always early internal organ involvement
- within 1 yr of Raynauds and skin changes in 90%

22

T/F
sclerodermoid changes on the proximal limbs or trunk are indicative of diffuse SSc

True
Limited SSc is confined to distal limbs and sometimes face

23

T/F
finger swelling is common in diffuse SSc but not in limited SSc

False
Occurs in >90% in both diseasess

24

What are the possble clinical features of Sjogren's syndrome?

Signs + symptoms of dry eyes and mouth (see diagnostic criteria)
Arthritis
Skin - VX LUNES;
Vulvovaginal dryness common
Generalised skin Xerosis and pruritus
Leukocytoclastic vasculitis
Urticarial vasculitis
Nodular amyloidosis
Erythema nodosum
Sweet’s syndrome
Respiratory, renal, bone marrow, CNS all can be involved

Remember; 16x increased risk of lymphoma (usually B-cell and extranodal such as salivary or lacrimal glands) esp if vasculitis, cryoglobulins or low complement

25

What are the derm manifestations of Rheumatoid arthritis?

Palmar erythema
atrophic skin esp dorsa of hands
brittle nails
Yellow nail syndrome
Bywater's lesions (small periungual necrotic lesions)
rheumatoid nodules (also seen in SLE)
Sclerodermoid change (pseudoscleroderma)
Rheumatoid vasculitis
Rheumatoid neutrophilic dermatosis (resembles Sweets)
Pyoderma gangrenosum
Interstitial granulomatous dermatitis
Leg ulcers and Felty's syndrome
Cutaneous AEs of drugs used
Systemic onset JIA (Still's) - 90% get transient mac-pap eruption, can get subcut nodules like rheumatic fever nodules (not Rheum nods)

NB DD of leg ulcers in RA;
PG
Rheumatoid neutrophilic dermatosis
ulcerated vasculitis
Feltys - ulcers may be multifactorial; mix of other listed causes
Any of the other usual causes of ulcers

26

What are the diagnostic criteria for Sjogren's syndrome?

Primary SS - Need 4 out of 6 features Positive which must include 1 or both of; positive salivary gland biopsy or positive autoantibodies
Secondary SS – Need oral or eye symptoms + any 3 of oral or eye signs or positive histo (serology not diagnostic in secondary dx)
- Positive salivary gland biopsy (inflammatory infiltrate of lymphocytes)
- Presence of autoantibodies (anti-Ro/SS-A or anti-La/SS-B)
- Symptoms of xerophthalmia – related to Keratoconjunctivitis sicca (destruction of lacrimal gland leads to: ocular dryness, foreign body sensation, pain, photophobia)
- Signs of xerophthalmia (Schirmer test, Rose Bengal test)
- Symptoms of xerostomia (destruction of salivary glands may present as dry, sore, burning mouth and lips, difficulty swallowing, require frequent ingestion of fluids, candidal overgrowth can lead to thrush) NB: salivary glands may become transiently enlarged (20% of patients) however persistent swelling or lymphadenopathy should prompt evaluation for B-cell lymphoma of salivary glands
- Signs of impaired salivary gland function (sialogram, scintigraphy – dye injected under X-ray exam)

27

What is ‘systemic sclerosis sine scleroderma’

SSc with internal organ disease + Raynauds + positive serology and no skin involvement

28

T/F
Calcinosis and telangiectasia are more common in limited than diffuse SSc

T

29

What triggers accellerated rheumatoid nodulosis?
(eruptive rheumatoid nodules)

Initiation of MTX or dose of TNF-alpha antagonists
also some patients with tapering of prednisone

30

What are the types of Interstitial granulomatous dermatitis?

Palisaded neutrophilic and granulomatous dermatitis (PNGD)
Interstitial granulomatous dermatitis (IGD)
Interstitial granulomatous drug reaction (IGDR)

31

Which drugs can cause Interstitial granulomatous drug reaction (IGDR)?
When do they occur?

common
ABCD STAT
ACEI – enalapril, lisinopril
Beta blockers – atenolol, propanolol, labetolol, metoprolol
Calcium channel blockers – verapamil, diltiazem, nifedepine
Diuretics - Frusemide (+HCTZ)
Statins – Simva, Prava, Lova
TNFα blockers
Antihistamines (H1 or H2), Anakinra
Thalidomide, lenalidomide

Uncommon
HCTZ
Carbamazepine
Diazepam
Bupropion
Ganciclovir
Darifenacin
Sennosides (senna)
onset after months-years of taking the drug
Can mimic Interstitial granulomatous dermatitis or Palisaded neutrophilic and granulomatous dermatitis clinically and histologically

32

What are the subtypes of chronic cutaneous LE?

DLE
Lupus tumidus
Lupus panniculitis
Chillblain lupus

33

What is Rowell’s syndrome?

Erythema Multiforme - like lesions and cutaneous lupus
SCLE>ACLE>DLE
Is not true EM
Papules on hands, chest, face and neck and in mouth turn into annular lesions with vesicular edge and atrophic/ necrotic centre. Often have perniosis
Speckled ANA, RF and anti-La Abs (also homogenous ANA if has SLE)
Lupus type skin lesions positive IMF but EM-like lesions negative

34

What is the topical and systemic treatment ladder for cutaneous lupus?

Gen measures - sun avoidance most important, cosmetic camouflage, assess for associations and complications
Topical
- potent TCS (even on face)
- tacrolimus
- topical retinoid
Systemic
- HCQ (stop smoking)
- Pred esp to gain control or if recalitrant
- Acitretin/Isotretinoin
- AZA
- MMF
Also;
- ILCS for tumid lupus, panniculitis or resistant DLE
- for chillblain LE nifedipine or IV prostacyclin in winter
- IVIg (SCLE)
- Etanercept (SCLE)
- Rituximab or other immune modifiers
- MTX (CCLE, SCLE)
- Gold
For resistant lupus panniculitis;
- Thalidomide also for chilblain type
- Cyclophosphamide
- IVIg
Also;
- Dapsone - mainly for bullous SLE
Other physical;
small lesions can be excised
CO2 laser for scarring
PDL for telys

35

What are the risks for SLE in pts with various types of cutaneous LE?

ACLE - 50%
SCLE - 15%
DLE - 5% (20% if disseminated)
Lupus panniculitis - 3% alone, 20% if also DLE
Tumid lupus - very low
Chillblain lupus - 15%

36

T/F
the lichenoid tissue reaction is most vigorous in acute lupus compared to other cutaneous LE types

F
most vigorous in SCLE

37

T/F
DLE on hair-bearing skin always causes a scarring alopecia

F
alopecia only in one third of cases on hair-bearing skin

38

What are the associations of DLE?

Rowell’s syndrome
PMLE
Porphyrias
Alopecia areata
Hereditary angioedema/C1q esterase inhibitor deficiency
CLL
MGUS
Multiple myeloma
MG
Thymoma
Pemphigus
Macroglobulinaemia
Thyroiditis
Polychondritis
Sheehan’s syndrome
Carpal tunnel

39

What is the ‘tin-tack’ sign?

removing adherent scale reveals horny plugs in dilated follicular orifi
e.g. DLE, localized pemphigus foliaceus

40

T/F
facial lesions of DLE can resemble rosacea but has papules, no pustules

T
7.5% like this
need to biopsy to distinguish

41

What is 'lupus erythematosus telangiectoides’?

Dissmeinated telangictatic variant of DLE
Reticulate telys on arms, dorsa of hands, legs/calves, feet, face, neck, ears, breasts.

42

What are the variants of DLE?

Rosacea-like
Hypertrophic
Bullous
lupus erythematosus telangiectoides

43

T/F
DLE may have significant systemic symptoms without being SLE

T
arthralgias (>20%)
chilblains (20%)
poor peripheral circulation (25%) or Raynauds (15%) are also not uncommon
Rarely sclerodactyly + hyperextension of DIPJs
subungual hyperkeratosis, dilated nailfold capillaries
thick rough red lips +/- erosions, erythematous lesions of mouth or vulva or oral leukoplakia
nasal mucosa ulcerations
red oedematous conjunctivae

44

T/F
50% of SCLE pts meet ARA criteria for SLE

T
but often not 'true SLE'; mainly photosensitivty and mucocutaneous criteria
settles with SCLE treatment
However in SCLE 50% gte arthralgia esp small joints +
can get Fever, malaise and CNS involvement and up to 15% get Renal disease - usually mild

45

What is the main DD for tumid lupus?

classically is Jessner's - some belive these are the same things as hard to differentiate
both have dense lymphocytic infiltrate
Others are PMLE and REM

46

T/F
+ve DIF at DEJ helps identify lupus panniculitis on histo

T
linear IgM and C3 at BMZ
Also;
Prominent lymphocytic infiltrate in subcutis often involving deep dermis
Deep dermal and subcut necrobiosis and sometimes vasculitis
Lobular or periseptal panniculitis

47

What are the features of Lupus panniculitis (profundus)?

Rubbery well-defined deep nodules, 1-several cms
Face, upper arms, upper trunk, breasts, buttocks, thighs
Can be perforating esp on legs

48

T/F
chillblain lupus pts may have cryoglobulinaemia

F
Some pts have cryofibrinogenaemia or cold agglutinins

49

What is Senear-Usher syndrome?

Pemphigus erythematosus
cutaneous lupus + pemphigus folliaceus overlap

50

T/F
Smoking associated with cutaneous lupus and worse response to antimalarials

T

51

T/F
‘Bullous SLE’ resembles pemphigus vulgaris

F
resembles DH/BP/EBA

52

What are the common features of SLE?

Fevers (90%)
(usually non-erosive) arthritis/arthralgia (90%)
rash - ACLE>DLE>SCLE or non-specific (80%)
weight loss (50%)
fatigue
myalgia
lymphadenopathy (50%)
Serositis - Pleuritis (40%), pericarditis (25%)
Libman-Sacks endocarditis
haemolytic anaemia w/ reticulocytes, low WCC, low lymphocytes, low platelets
Lupus nephritis - proteinuria, casts (66%)
Hepatomegally (25%)
CNS features – seizures etc (25%)
Menstrual irregularities are common; >80% and rash flares prementsrually in 20% of women
Hyper or hypothyroidism
Diffuse alopecia in 50% and ‘lupus hair’ – dry, brittle with broken off hairs
Rarer - splenomegally, abdo pain and GI upset, psychosis

53

What are the non-specific skin changes of SLE?

maculopapular erythematous scaly photosensitive eruption
Calcinosis
Rheumatoid nodules
Raynaud's (30-60%)
Sclerodactyly
Nailfold telys and erythema
Urticaria, Urticarial vasculitis
Purpura
Palmar erythema
Palmar keratoderma
Livedoid vasculopathy
Gyrate erythema
Erythromelalgia
diffuse alopecia
Inflamed ear or nose cartilages
Erythromelalgia
Papulonodular mucinosis
Anetoderma
EAC
Large areas of hypopigmentation
Cheilitis, cracked lips or tongue
nasal, oral or genital ulcers
CSVV
vasculitis skin ulcers
digital gangrene
Cutaneous signs of possible antiphospholipid syndrome
(suggestive, not diagnostic. Can be seen in any SLE patient)
- Livedo reticularis
- Ulcerations
- Acrocyanosis
- Atrophie-blanche-like lesions (cutaneous infarction)
- Degos’-like lesions (cutaneous infarction)

54

T/F
Up to 23% of pts with Cutaneous LE will develop SLE

T
over average 8 years
Mostly mucocutaneous criteria - Systemic SLE features are uncommon in these patients and only a minority develop mod/severe systemic disease

55

What are the associations of SLE?

RA
Systemic sclerosis
Sjogrens
PMR – esp in cases presenting in the elderly
Morphoea – linear, plaque, en coup de sabre
PBC
Angio-oedema of C1q esterase inhibitor deficiency
MG and/or thymoma
Pernicious anaemia
Pemphigus
Kikuchis disease

56

What investigations should be done in pts presenting wit
low risk cutaneous LE and no other features (DLE, tumidus, panniculitis)?

Basic lupus screen;
Full Hx and exam
Punch Bx; H+E +/- lesional IMF
FBC, ELFT, ANA, ENA(Ro, Sm), Anti-dsDNA, ESR, C3/C4
Urinalysis –P/RBC/C

57

Which pts need a more full lupus work up?

Pts presenting w/ ACLE, SCLE or chilblain LE or clinically suspected of having SLE before or after basic screen performed

58

What is involved in an extended lupus work up?

Punch Bx; H+E +/- lesional IMF, +/- sun-protected non-lesional skin for lupus band IMF
FBC, ELFT, ANA, ENA(Ro, Sm), Anti-dsDNA, ESR, C3/C4 (+/- Coombs test, syphilis serology, LE cell test, anticardiolipin or anti-phospholipid Abs)
B12, folate, TFTs and thyroid auto-Abs, RF, AMA (for PBC), EPP/Immunofixation (associations)
Urinalysis –P/RBC/C
ECG, echo
Xray affected joints
Work up by Rheum/renal/neuro/psych as required

59

T/F
Anti cytoplasmic Ab may be +ve in true ANA negative SLE

T

60

T/F
Anti-Sm and anti-dsDNA are specific for SLE

T

61

T/F
complement C1-4 all tend to be high in SLE

F
all low

62

T/F
the speckled ANA pattern is most common in SLE

F
Homogenous 75%
Speckled 25%
Nucleolar about 5%

Homogenous pattern most common in all forms of lupus, seckled 2nd most common

63

What is the lupus band test?

Granular IgG and/or IgM mainly, can also be IgA + usually complement proteins; C4 most common, C1q also common esp in SLE (90%) at DEJ
should take non-lesional skin - more likely significant result if from non-exposed site

64

Whats the main DD for lupus panniculitis?

Subcutaneous panniculitis-like T cell lymphoma
Others include any lobular/mixed panniculitis
If perforating - pancreatic panniculitis

65

T/F
Many pts with DLE relapse after clearance

T
Often relapse within 6/12 when treatment stopped
Only 50% complete remission in long term
If clearance achieved should stop treatment. May need multiple courses over years to achieve relapse-free cure

66

T/F
The presence of C1q on IMF in cutaneous lupus carries increased risk of SLE

T

67

What are the complications of cutaneous LE?

Scarring - >50% of DLE
Atrophy of skin
Tissue destruction (esp DLE)
Dyspigmentation – 35% of DLE
SCC – can develop in longstanding DLE lesion
Alopecia - Scarring from DLE
SLE
drug AEs

68

T/F
HCQ effective in 75% of DLE cases

T
Takes 1.5-3 months to start to work – most will respond in 6 weeks
When controlled reduce to lowest effective dose

69

What are Rx of SLE?

NSAIDs 1st line for mild disease (no dangerous organ involvement) with joint pain
Mod-severe disease; corticosteroids, leflunomide, AZA, pulsed cyclophosphamide
immune response modifiers if refractory
Antimalarials less useful than in DLE but may help if photosensitivity
3rd line; MMF, MTX, CsA, Rituximab, plasmapheresis, IVIg

70

T/F
lupus anticoagulant antibodies cause blood thinning

F
lupus anticoagulant is not anticoagulant
causes thrombosis
Does cause prolongation of APTT and PT
Only associated w/ Lupus in less than half of cases
Is type of antiphospholipid Ab

71

T/F
anticardiolipin Abs are types of antiphospholipid Ab

T
The main anticardiolipin Ab is anti-β2-glycoprotein-1 Ab

72

T/F
Antiphospholipid syndrome usually occurs in the setting of autoimmune CTD

F
primary (no AICTD) or secondary (associated with AICTD)
53% are primary

73

What are the associations of secondary Antiphospholipid syndrome?

SLE (36% of cases)
drug-induced SLE
PMR
Giant cell arteritis
lymphoma

74

What are the skin findings of Antiphospholipid syndrome?

Livedo reticularis most common (24%) can be proximal livedo reticularis with or w/out distal retiform purpura)
leg ulcers occur in 5%
Purpura
ecchymosis
livedoid vasculopathy
Sneddon’s syndrome
thrombophlebitis (migrans)
vasculitis-like lesions, cutaneous necrosis, gangrene, splinter haemorrhages, nailfold ulcers
Degos-like lesions, Behcet’s-like lesions
anetoderma-like lesions with thrombosis
atrophie blanche
pseudo-kaposi’s sarcoma
Raynaud's

75

What are the systemic findings of Antiphospholipid syndrome?

VTE
arterial thrombosis
miscarriage
premature delivery
MI, valvular heart disease or libman-Sacks endocarditis, epilepsy, chorea, myelitis, retinopathy, AVN, Addisons disease, haemolytic anaemia

76

What are Diagnostic criteria for Antiphospholipid syndrome?

Need at least 1 clinical and 1 lab feature
Clinical;
- One or more episodes of arterial, venous or small vessel thrombosis
- Pregnancy complications
One or more unexplained foetal loss at 10 wks or later (normal foetus)
One or more prem delivery of normal neonate before 34 wks
3 or more unexplained consecutive miscarriages before 10 wks
Laboratory;
- IgM or IgG anticardiolipin Abs at mod-high levels on ≥2 occasions ≥12 wks apart
- Positive lupus anticoagulant Ab test on ≥2 occasions ≥12 wks apart
- Positive β2-glycoprotein 1 Abs test on ≥2 occasions ≥12 wks apart
NB thrombocytopenia is no longer in the diagnostic criteria

77

What features are seen in the hands in scleroderma?

Raynaud's
Sclerodactyly
Scleroderma proximal to knuckles if diffuse
fingertip ulcers
sequntial skin changes; oedema, induration; atrophy
flexion contractures
Erythema of thenar and hypothenar emini
Telangiectasia esp of palms
digital calcinosis (10x more common in F)
Dilated nailfold capillaries + drop out in diffuse SSc
Dry skin, hypohidrosis
May be hyperpigmentation
Can get gangrene, osteomyelitis or autoamputation
Feet may also show Scleroderma and ulceration

78

What skin features are seen away from the hands and feet?

scleroderma of limbs, face and trunk
beaked nose, microstomia
sicca syndrome
Salt and pepper leukoderma
hyperpigmentation - face, mainly also thighs, legs and lower abdo or diffuse
Telys esp face, lips
calcinosis esp around limb joints
hyper or hypo trichosis
Dry skin, hypohidrosis

79

What are the systemic complications of SSc?

Pulmonary fibrosis
Pulmonary HTN
Myocardial fibrosis/cardiomyopathy
Renal disease/renal crisis
GI fibrosis
Oesophageal dysmotility
Tendon friction rubs
Arthralgia
Proximal weakness
Sicca syndrome

80

Which features occur more commonly among pts with limited tham diffuse SSc?

Raynaud's - 99% vs 90%
Calcinosis - 40% vs 20%
Matt telys - 90% vs 60%
Oesophageal dysmotility 90% vs 80%
small bowel involvement - 60% vs 40%
Sicca syndrome - 35% vs 15%
Pulmonary HTN - 25% vs 20%

81

T/F
these systemic features may occur in limited SSc;
Pulmonary HTN
Pulmonary fibrosis
Cardiomyopathy
Arthralgia
Tendon friction rubs
Proximal weakness
Oesophageal dysmotility
small bowel involvement
Renal crisis

T
Arthralgia 90%
Oesophageal dysmotility 90%
Small bowel involvement 60%
Proximal weakness 60%
Pulmonary fibrosis 35%
Sicca syndrome 35%
Pulmonary HTN 25%
Tendon friction rubs 5%
Renal crisis 1%

82

What is CREST syndrome?

Calcinosis
Raynauds
(E)Oesophageal dysmotility
Sclerodactyly
Telangiectasia

83

Which autoAbs are found in SSc?

ANA high in 97% nucleolar and speckled patterns most common
Anticentromere Abs 70% limited, 20% diffuse
Scl-70 (Anti-topoisomerase 1) Abs 10% limited, 45% diffuse (specific for SSc)
RF +ve in 30%
Anticardiolipin Abs in 25%
Anti-RNA polymerase Abs - if positive indicates increased risk of diffuse disease

84

T/F
skin biopsy can differentiate morphoea and scleroderma

F
morphea usually has more infiltrate in early stages but in late stages cannot distinguish scleroderma and morphoea

85

T/F
Scl-70 (Anti-topoisomerase 1) Abs in SSc indicate likely limited disease

F
Anti-Scl-70 (Anti-topoisomerase 1) Abs and Anti-RNA polymerase Abs both indicate likely diffuse disease
Anticentromere Abs indicate likely limited disease
think 'S' for 'Systemic' and 'C' for CREST

86

T/F
Sjogrens occurs in about 45% of SSc pts

False
20% (often Ro and La +ve)
arthralgia and sicca syndrome can be part of SSc so hard to diagnose unless Abs present

87

What tests should be considered when working up SSc?

BP
Schirmers test
FBC, ELFT
Serum calcium (exclude metastatic calcinosis)
ESR (raised in 50%)
C3, C4 (may also have lupus)
CK – myopathy marker
Serology; ANA, Anti-Scl-70 (topoisomerase 1), Anti-centromere Abs, RF, Anticardiolipin Abs, antiphospholipid Abs, Anti-RNA polymerase Abs, Ro and La, Myositis Abs, Anti-dsDNA, Anti-Sm
Urinalysis for P/C/RBCs
RFTs including DLCO
CXR and high res CT chest
EMG, MRI (if myopathy)
ECG, Echo (for cardiac Dx and Pulm HTN)
Cardiologist or resp physician may request Rt heart catheterization to assess myopathy and pulmonary HTN
OGD/barium swallow/oesophageal manometry

88

Which pts have a worse prognosis in systemic sclerosis?

Male
Black
Older age of onset
Truncal skin fibrosis
Internal organ involvement at diagnosis
Extensive lung involvement
Raised ESR

89

In SSc there is no proven effective treatment to stop or reverse the disease

T
Each system/complication treated separately
Dont forget physio, OT and psych/ support groups
General measures for skin;
Regular emollient
Keep warm esp hands/ treat Raynauds
Stop smoking
Tretinoin cream may reduce facial tightening
Can treat telys with PDL

90

Which systemics may be tried in SSc?

MTX 15-25mg/wk
Cyclophosphamide (used for lung dx)
Prednisolone/ pulsed dexamethasone
Acitretin/Isotretinoin (1mg/kg)
CsA
Colchicine (little evidence)
MMF
Penicilamine
PUVA
UVA1
ECP
Plasmapheresis/ plasma exchange
Factor XIIIa

91

How are ulcers managed in SSc?

Treat Raynauds, keep warm, stop smoking
Occlusive hydrocolloid dressings
Bosentan (enothelin receptor antagonist)
Iloprost IV (prostacyclin analogue)

92

How is calcinosis managed in SSc or dermatomyositis?

No good treatment
Antacids if hyperphosphataemic
Diltiazem may help some pts (antagonise calcium-sodium ion pump)
Warfarin – low dose
Bisphosphonates
ILCS
IV sodium thiosulfate 25%
Surgical excision
Extracorporeal shockwave lithotripsy

93

What are the causes of Raynaud's disease?

I have COLD HANDS
Idiopathic
Cold injury, carpal tunnel
Obstruction of large vessels; thoracic outlet syndrome, Takayasu’s, Buerger’s, crutches
Lupus (SLE) and AI CTDs; SSc, MCTD, Antiphospholipid syndrome, Dermatomyositis
Diabetes and metabolic; myxoedema, Fabry’s disease
Haematological; cryoglobulinaemia, cryofinrinogenaemia, cold agglutinins, myeloproliferative Dx (thrombocythaemia, polycythaemia, leukaemia)
Arterial (small vessel); vibration injury, vinyl chloride, chemo, arsenic
Neurological; reflex sympathetic dystrophy, migraine, Pintzmetals var angina
Drugs; (ergot) alkaloids, bromocriptine, interferon, oestrogen, cyclosporine, sympathomimetic agents, clonidine, cocaine, nicotine
Secreting tumours; Phaeochromocytoma, Carcinoid, lung adneocarcinoma

94

What are the treatments of Raynaud's disease?

General measures (avoid cold, vibration etc, stop smoking)
0.2% GTN oint (rectogesic cream)-headaches
Nifedipine 10-20mg QDS
Diltiazem
Reserpine
Losartan
Sildenafil
Aspirin and/or pentoxyfyline
Prazosin 1mg TDS reduced episodes of vasospasm

95

What are the types of Morphoea?

Generalized
Localized
- Plaque morphoea
- Linear morphoea
- Frontoparietal morphoea (en coup de sabre)
- Subcutaneous (deep) morphoea
- Bullous
- Others – guttate, nodular/keloidal etc
Some consider atrophoderma of Pasini and Pierini to be a form of superficial morphoea
Some consider Hemifacial atrophy (Parry-Romberg) in this group

96

T/F
all types of morphoea are more common in women

F
linear morphoea is M=F (and more common in children)
other types 3x more in women

97

T/F
SSc is associated with other AI CTD

T
Sjogrens
SLE
Dermatomyositis
but not associated with other AI diseases

98

T/F
20% of new cases of morphoea are children

T
mean age of onset 7 years

99

T/F
Morphoea has associations in adults but none in children

F
Other way around
children may have –
arthralgia
neurological, vascular, occular, GI, resp or cardiac anomalies (get work up by paediatrician if any concerns clinically)

100

T/F
plaques of morphoea are oedematous and elevated initially then become sclerotic later

T
become sclerotic as they expand centrifugally
alos turn from red-violet to white or brown
A persisting lilac border is the hallmark of an active lesion

101

T/F
linear lesions of morphoea have no complications

F
occur in kids and can affect growth of the area/limb and use of nearby joints
soemtimes circumfrential rather than longitudinal - can constrict limb
Can cause permanent limb asymmetry

102

T/F
Linear moprhoea may be triggered by allogenic BMT

T

103

T/F
Linear frontoparietal moprhoea can extend from parietal scalp down face as far as neck

T

104

T/F
Parry Romberg syndrome is hemifacial atrophy without cutaneous sclerosis

T
But Linear frontoparietal moprhoea (en coup de sabre) can also cause hemifacial atrophy and can go as deep as brain

105

What is the natural Hx of morphoea?

progresses over 3-5 years then arrests and slowly resolves spontaneously leaving burnt out scars

106

What is treatment ladder for morphoea?

Photos for monitoring important
Potent TCS
Topical tacrolimus
Daivonex (calcipotriene)
ILCS
Retinoids – low dose with PUVA or UVA1
Oral steroids
MTX (15-20mg/wk) +/- pulsed high dose IV methyl pred (1g 3 days per month)
Acitretin (10-50mg/day appears effective in some pts)
Penicillin or penicillamine
PUVA (mainly as bath PUVA)
UVA1
Physio to prevent joint contractures
OT and physio for lymphoedema
surgery to excise scarred areas or reconstruct

107

What are the causes of sclerodermoid change?

SCLERODERMA K
S- Scleroderma, scleredema, scleromyxoedema, Stiff skin syndrome
C – CTD (mixed), carcinoma en cuirasse, chronic GVHD, Carcinoid
L – Lichen sclerosus (extragenital), lipodermatosclerosis
E – Eosinophilic fasciitis, EBA
R – Renal (nephrogenic systemic fibrosis)
O – Oedema (gravitational)
D – Drugs + Toxins (bleomycin, Gadolinium contrast, penicillamine, tryptophan, Phenytoin, Atorvastatin, PVC, solvents, silica, dry cleaning solvents, epoxy resins)
E – Endocrine (hyperthyroidism – pretibial myxoedema) diabetic cheiroarthropathy
R – Radiation, Rapeseed toxic oil
M – Metabolic (PKU, PCT)
A – Amyloidosis
Vitamin K injection (Texier disease)

108

What are clinical features of Eosinophilic fasciitis?

Adults or children, M>F
Acute pain, swelling and tenderness of distal limbs - become sclerodermoid
‘pseudo-cellulite’ rippled appearance
‘groove sign’ – linear depression at site of veins
no systemic features/ can be Raynaud's

109

What are triggers of Eosinophilic fasciitis?

Strenuous physical activity (up to 30% of cases)
Neoplasia – malignancy screen
Drugs – atorvastatin, phenytoin, tryptophan
Autoimmune thyroiditis
Hypercalcaemia
Eosinophilic colitis

110

What are histo findings of Eosinophilic fasciitis?

dermal sclerosis
lymphocytic inflam of fat and fascia + eos
fibrosis of fat and fascia
Fascia is thick and infiltrated by lymphocytes, plasma cells, histiocytes and eos, can be mast cells

111

What is treatment of Eosinophilic fasciitis?

Rx with steroids – see response in weeks and taper over 6-24 months
If needed add MTX, CsA, HCQ, dapsone, infliximab or PUVA
Can use UVA1 alone or with retinoid
Can be spontaneous remission

112

What is Nephrogenic systemic fibrosis (NSF)?
How is it treated?

AKA nephrogenic fibrosing dermopathy
Triggered by the use of gadolinium based contrast medium in pts with renal disease
Redish papules that coalesce into red/brawny plaques with peu d’orange (or cobblestone) appearance
Symmetrical on legs and arms and trunk and progress rapidly
become thick and woody causing joint contractures
Also get yellow scleral plaques
Poor response to Rx
Topical – steroids, calcipotriol
Systemic – steroids, IVIg, d-penicillamine, CsA, cyclophosphamide, thalidomide, IFNα, imatinib, rapamycin
Procedural – UVA1, PDT, ECP
Also discontinuation of Erythrompoeitin

113

T/F
Mixed Connective tissue disease often has high titre homogenous ANA

F
high titre speckled ANA
Anti-U1RNP antibodies on ENA
often RF +ve
Usually negative for specific Abs for SLE or SSc

114

T/F
Mixed Connective tissue disease has overlapping clinical and serologic features of various combinations of RA, systemic sclerosis, SLE, and polymyositis

T
MCTD is least common of the autoimmune CTDs
Death due to pulmonary HTN

115

T/F
Dermatomyositis F:M = 2-3:1

T

116

T/F
25% of adults and children with dermatomyositis get malignancy

F
25% of adults
not children

117

T/F
In dermatomyositis autoreactive CD8 T cells invade myocytes expressing MHC class I antigens and cause necrosis via perforin pathway

F
That is polymositis
In dermatomyositis complement is deposited in capillaries causing capillary necrosis and ischemia
This is directed by auto antibodies

118

T/F
Dermatomyositis is assoc w/ HLA DR3, DR5, DR7

T

119

What are triggers for dermatomyositis?

Malignancy
- lung, breast, female genital tract, stomach, rectum, kidney or testis
Infection
- Staph, strep, Toxoplasmosis, parvovirus B19, coxsackie B, HTLV-1, HIV
Drugs + Vaccination
- PHD TO BOOST (the) CV
Penicillamine, Hydroxyurea, Diclofenac
Tamoxifen, TNFalpha blockers, Benzalkonium Chloride
Carbamazepine, cyclophosphamide, Vaccination (BCG)

120

What are the types of dermatomyositis?

Adult-onset;
Classic DM
Classic DM with malignancy
Classic DM as part of an overlapping CTD
Clinically amyopathic DM;
- Amyopathic DM
- Hypomyopathic DM

Juvenile-onset;
Classic DM
Clinically amyopathic DM
- Amyopathic DM
- Hypomyopathic DM

Antisynthetase syndrome

121

What is Antisynthetase syndrome?

variant of dermatomyositis;
Anti-aminoacyl tRNA synthetase Abs – includes; anti-Jo-1, anti-PL-7, anti-PL-12
Fever
Raynauds
Myopathy
Interstitial lung disease
Non-erosive arthritis
Mechanics hands +/- Gottrons papules

122

What are the associations of Dermatomyositis?

Malignancy - ?association/trigger
AI CTD; SLE, SSc, Sjogren’s, RA, MCTD
other AID;
autoimmune Thyroid disease
Myasthenia gravis
T1 Diabetes
Primary biliary cirrhosis
Coeliac/Dermatitis herpetiformis
Vitiligo

123

T/F
Anti-Jo1 Abs in DM are associated with / antisynthetase syndrome

T
Also anti-PL-7, anti-PL-12 Abs

124

T/F
Anti-p140 Abs have been linked to juvenile DM and calcinosis

T

125

T/F
Anti-SAE Abs assoc w/ acute onset necrotizing myopathy, may be refractory to treatment

F
That is Anti-SRP Abs
Anti-SAE Abs – skin and muscle DM with few/absent systemic features/may be amyopathic
SRP = Some refractory people
SAE = Some are easy (mild/amyopathic)

126

T/F
Anti-MDA5 (Anti-CADM 140) Abs - associated with clinically amyopathic DM and possibly interstitial lung disease and may have other features of antisynthetase syndrome

T
MDA5 = Muscles Do A 5 as in 5/5 power (amyopathic)

127

T/F
Anti-p155/140 Abs - malignancy associated myopathic DM + severe skin disease

T
55 = SS = Severe Skin, tumour within

128

Which autoantbodies are associated w/ amyopathic dermatomyositis?

Anti-MDA5 (Anti-CADM 140)
anti-synthetase Abs; anti-Jo-1, anti-PL-7, anti-PL-12
SAE - sometimes amyopathic
Anti-Mi2 - mild muscle disease

129

T/F
Anti-Mi2 Abs associated with skin and muscle DM with few/absent systemic features/may be amyopathic

F
This is anti-SAE
Anti-Mi2 Abs associated with severe but responsive skin disease, Hypomyopathic muscle disease; responds well to Rx

130

T/F
Most often the malignancy is already present when dermatomyositis starts

F
Most often DM precedes the neoplasm 40%
neoplasm occurs first in 35%
Concurrent in 25%

131

T/F
Patients with amyopathic DM dont get malignancy

F
risk is the same

132

T/F
In dermatomyositis, myositis may occur concurrently, precede, or follow skin disease by weeks to years

T

133

If no sign of myositis at presentation of dermatomyositis what is course of action?

If no sign of myositis at presentation is clinically amyopathic
Do full Ix to see if actually hypomyopathic;
Serum CK, Aldolase, LDH
EMG
Triceps muscle biopsy if no obvious involved muscle
MRI (T2 weighted) or USS of proximal muscles if EMG or muscle Bx negative or declined
If still amyopathic then need to monitor for myopathy (at least clinical muscle weakness and measurement of CK and aldolase) every 2-3 months for 2 years – if remains amyopathic can change diagnosis from clinically amyopathic to amypathic DM

134

If no sign of malignancy at presentation of dermatomyositis what is course of action?

Full age and sex-appropriate maligancy screen
If still negative repeat every 4-6 months or at least annually for at least 3 years
Some evidence that if no maligancy after 2-5 years risk goes back to baseline

135

What is age and sex-appropriate maligancy screen e.g. in Dermatomyositis

FSE
EPP/Immunofixation, BJP
Urine cytology
Stool FOBx3
Men – PSA, LDH, AFP (testicular)
Women - Mammography, smear, Transvaginal pelvic USS (CA125 only if mass found on USS)
CT chest/abdo/pelvis
Colonoscopy if age appropriate, Fe deficiency anemia, occult blood in stool, or symptoms
Upper endoscopy – if colonoscopy negative in setting of the above (see colonoscopy)
For Asians get ENT rw
NB LDH can be raised in cancer or muscle disease as wellas cardiac or liver Dx or haemolysis

136

T/F
Bone marrow biopsy is important in work up of dermatomyositis

F
mostly solid organ malignancies

137

What are the systemic features of Dermatomyositis?

Fever, arthralgias, malaise, weight loss
Raynauds phenomenon
Dysphagia, reflux
Cardiac disease - arrhythmias or conduction defects
Respiratory disease - diffuse interstitial fibrosis; also weakness of thoracic muscles; may also develop ARDS

138

Skin biopsy findings in dermatomyositis

often subtle
Lichenoid similar to LE
sparse lymphocyte infiltrate
dermal interstitial mucin deposition

139

What investiagtions should be done in Dermatomyositis?

Skin biopsy
FBC, ELFT, CK
Myositis antibody screen
Associations screen - fasting glucose, HbA1c, ANA, ENA, dsDNA, thyroid autoantibodies, TFTs, AMA, coeliac serology
Full myositis screen if clinically amyopathic
Malignancy screen
Systemic complications screen - RFTs with DLCO, HRCT chest, ECG, Echo +/- Holter, If symptoms; barium swallow/ manometry
Pre treatment tests;
DEXA bone density scan pre steroids
Qgold and infection screen prior to immunosuppression
Eye exam and G6PD prior to HCQ

140

T/F
Skin, lung and muscle disease of dermatomyositis often respond well to steroids

F
muscle often does but not always
often disocrdance between responses in the 3 areas

141

What is treatment of Dermatomyositis?

General;
make appropriate referrals; Physio, Speech path, Rheum, Gastro, Cardiol, Resp
bed rest for severe myositis, physiotherapy, raising head of bed to prevent reflux/aspiration if dysphagia or GORD
sometimes NGT feeds
Sun avoidance and protection
Skin;
Topical steroid
TCNI
HCQ - books say can add quinacrie but not available in Aus; below Rxs can be added to HCQ rather than replace
MTX - 2nd choice
MMF - 3rd choice
Others that have reported benefit; dapsone, thalidomide, anti-TNFα (etanercept), IVIg
Muscle;
High dose prednisolone - responds in 4 weeks, taper dose to half in 1st 6 months then taper off over 1-2 years
pulse methyl-prednisone
steroid-sparing agent MTX or AZA
high dose IVIG
pulsed cyclophosphamide
Cyclosporine
MMF
Biologics (infliximab)

142

What are the clinical subtypes of SCLE?

Annular - 40%
Papulosquamous (psoriasiform) - 40%
Bullous
Hypertrophic (keratotic)
TEN-like

143

Which autoantibodies are most important in morphoea work up?

None very specific for morphoea
ANA, ssDNA and antihistone Abs most important

144

In what proportion of morphoea pts are anti ssDNA Abs +ve?

Anti-single stranded DNA Abs +ve in;
25% plaque
50% linear
75% generalised

145

Which morphoea pts are more likely to have a raised ANA?

children or in linear, generalized or deep morphoea

146

T/F
In plaque morphoea antihistone Ab titres correlate to extend and activity

F
this is true in linear morphoea
Antihistone Abs also may be +ve in other types esp in generalised or widespread plaque morphoea

147

T/F
Muscle involvement occurs before skin involvement in demratomyositis with anti-SUMO-1 antibodies

F
Skin first - Su
Muscle later - Mo

148

T/F
25% of kids presenting with DLE will have SLE when investigated fully

F
15% have SLE at presentation

149

T/F
Of kids with skin limited DLE at diagnosis;
25% go on to develop SLE
45% develop lab abnormalities but not SLE
30% maintain skin limited disease

T

150

T/F
90% of children who had DLE and SLE get systemic disease

F
Only 10% get true systemic disease
90% of children who had DLE and SLE (by criteria) meet criteria by mucocutaneous features only without getting systemic disease