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Chapter 51 connective tissue diseases Melissa > Scleroderma and related diseases > Flashcards

Scleroderma and related diseases Flashcards

1
Q

Sclerosis definition

A

excess collagen in the absence of increase in fibroblasts (eg systemic sclerosis) primarily Collagen I and III in the dermis and SC tissue

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2
Q

Fibrosis definition

A

excess collagen and fibroblasts (eg nephrogenic systemic fibrosis)

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3
Q

Drugs that can cause scleroderma

A

o Bleomycin, taxanes, vinyl chloride, chlorinated hydrocarbons

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4
Q

What to look for on examination

A

Localised vs generalised
Asymmetric (morpheaform), sclerodermoid (symmetric, generalised)
Superficial/deep
Over joint, contractures, telangiectasis, calcinosis cutis
Colour: erythema, violaceous, hyper/hypopigmetned, ivory white
Upper extremitiy ulcer (sclerosis/scleroderma), if lower extremity may not be – need vascular studies
Involvement of hands?
Symmetric acral to proximal progression in sclerosis
Diffuse skin tightening in sclerosis
Active inflamamation vs damage

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5
Q

Skin biopsy features of Morphea/sclerosis

A

o Superficial or deep inflammation: perivascular and interstitial lymphocytes, admised with plasma cells and sometimes eosinophils
o Inflammation in reticular dermis and/or the fibrous trabeculae of the SC tissues
o Thickening of collagen bundles, square biopsy
o Loss of adnexal structures

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6
Q

Initial bloods

A

o FBC – look for Eo
o ESR/CRP
o ANA/RF -
o Serum EPP for eosinophilic fasciitis

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7
Q

Morphea - autoantibodies

A

+ ANA in 50% (titres do not correlate with disease course/severity - except linear morphea in children)
ssDNA, antihistone, antitopoisomerase II-alpha

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8
Q

Systemic sclerosis - autoantibodies

A

+ANA in 85%

anticentromere, Scl-70, RNA pol III

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9
Q

2 types of systemic sclerosis

A

Diffuse and limited

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10
Q

Types of morphea

A

Plaque, linear, guttate, segmental, bullous, keloidal (nodular), profunda, generalised
Circumscribed
pansclerotic
atrophoderma of pasini-pierini

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11
Q 
Circumscribed type
Who
Where 
Scarring?
Clinical features
A

Most common variant in adults
Trunk, often pressure areas like waist or bra line
Only active morphea will respond to tx
Superficial or deep
Can leave scarring – atrophy and dyspigmentation
Early lesions: erythema, violaceous patches and plaques, indurated borders
Late: sclerotic, hairless, dyspigmented

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12
Q

Treatment of circumscribed type

A 
Superficial Tx
Topical tacrolimus (2/12) 0.1% bd 
Calcipotriol + betamethoasone dipropironate – once to twice a day
Topifal imiquimod: three times per week 
Occluded calcipotriene: twice a day 
Lesion limited therapy UVA1, UVA, NBUVB
Watch and wait
Deep Tx
Lesion limited phototherapy - 90% improved with UVA1, 80% PUVA, 77% UVA, 90% bath PUVA 
Topical tacrolimus 
MTX 
Watchful waiting
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13
Q

Linear variant

A

Eg en coup de sabre
Parry Romberg – hemifacial atrophy
Cns: seizures, headaches, vascular malformations, CNS vasculitis (10%)
Eye: adnexal sclerosis, uveitis other (3%)

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14
Q

Linear morphea

Investigations and treatment

A

MRI baseline, EEG, eos may be elevated.
Ophthal q3-4 months for first 3 years of disease
Face or crossing joints
MTX 15mg/m2, systemic steroids 1mg/kg (8/52) or methylpred IV 10mg/kg per day for 3 days monthly for 2-3 months
Current recommendation 2 years of MTX to reduce relapse
MMF 600-1200mg/m2 bed
Phototherapy (UVA, PUVA, UVA1 (40 treatments mean dose 3700J/cm2, longer relapse if longer disease duration prior to therapy) ,NBUVB)
physio

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15
Q

Linear morphea - clinical features

A

en coup de sabre
Parry Romberg – hemifacial atrophy
CNS: seizures, headaches, vascular malformations, CNS vasculitis (10%)
Eye: adnexal sclerosis, uveitis other (3%)

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16
Q

Generalised morphea features

A

> 4 plaques >3cm each and /or
/= 2 anatomic areas (of 7)
Can reduce chest wall expansion
2/3 have genital LS

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17
Q

Tx of generalised morphea

A

Phototherapy (no response after 8/52)
MTX and systemic steroids (8/52)
MMF

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18
Q

Features of pansclerotic

A

Consider MRI to see MSK involvement

Rare

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19
Q

Histo of lichen sclerosus

A

Histo: Initially: superficial dermal oedema and band like lymphocytic infilatrate. Thinned epidermis with orthohyperkeratosis and vaculoar degeneration of the basal layer. Follicular plugging Homogenised dermal collgen papillary dermis
Risk of SCC

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20
Q

Tx of LS

A

Topical CS – dip ov bd until itch resolves (1-2 weeks) then once at night
Rv 6 weeks (but usually continue for 12 weeks total), then step down to advanta fatty ointment daily, then alt with HC1%, then 2x week with HC1% other days
Phototherapies: PUVA, UVA1

21
Q

Criteria for Systemic sclerosis

A

Skin thickening of fingers of both hands proximal to MCPs (9 points) – sufficient alone
Skin thickening of fingers – sclerodactylyl (tightening to distal to MCP, proximal to PIP)(4) or puffy fingers (2)
Raynauds (3)
Abnormal nail fold capillaries (2) – in ppl with raynauds = 80% of ppl with both nail fold changes AND abs at baseline developed SSc
Finger tip lesions – digital tip ulcers (2) or fingertip pitting scars (3) DDx: ischaemic, traumatic, calcinosis, +/- infection. Ix: Doppler, vascular, xray, swab, coags, vasculitic screen
Telangiectasia (2) – mat, macules (not domed – in hereditary haemorrhagic telangiectasia). More often in patients with limited disease/CREST, cheeks, lips, palms
Pulmonary HTN/and or Interstital lung disease (2) PHTN: 10% patients, counts for 26% related deaths. ILD: 50% of patients, 35% deaths

22
Q

PHTN
Survival
Tx
Antibodies

A

PHTN – associated with >10 telangiectasias
PFTs yearly, R heart cath
2 year survival 47% prior and 71% at present
Fibrosis: Likely to be treated with Cyclophosphamide, MMF
PAH with bosentan, sitaxentan, sildenaphil, iloprost, rituximab
SSc autoantibodies (Anticentromere, anti-topoisomerase (Scl-70), antiRNA pol III) (3)

23
Q

Systemic sclerosis - prognostic factors

A

male sex, black race, older age at Dx, internal organ involvement at Dx, skin fibrosis affecting the trunk, raised ESR

24
Q

Prognosis of systemic sclerosis

A

10 year survival less than 70%

25
Q

Diffuse vs limited

A 
Limited scleroderma (distal to elbow; limited to hands +/- forearms, feet, face) 35% interstitial lung disease, 25% pulmonary hypertension 
Diffuse scleroderma (proximal to elbow +/- trunk). 70% interstitial lung disease, 5% pulmonary hypertension
26
Q

DDx of sclerodactylyl

A 
DDx of sclerodactylyl:
-	Joint 
o	Diabetic cheiroarthropathy
o	Joint anklyosis
-	With skin issues
o	Fibroblastic rheumatism
o	Pophryia
o	Drugs (eg hydroxyurea, bleomycin)O
27
Q

Prognosis of

Diffuse vs limited SS

A

Prog:
Diffuse: 10 year survival 21%, 70% 5 year survival
joint contractures, GI, lungs, heart and kidneys early in 1st 5 years

Limited : 10 year survival 76%, 90% 5 year survival (CREST is a subtype)
tend to have pulmonary hypertension and malabsorption 10-20years post dx

28
Q

Antibodies in SS

A

ANA 60-90% tire greater than 1:160
- centromere, nucleolar, speckled

Scleroderma Hallmark Abs:
Patients tend to have only 1 (10% neg)

Centromere 30% limited , (CREST), possible increased risk of PAHTN, ischaemic digital loss. Also in sjogrens, Hashimoto, primary biliary cirrhosis.

Anti-topoisomerase: (Anti-Scl70) 20%, diffuse, pulmonary fibrosis and mortality
RNA pol III-10% diffuse, rapid onset cutaneous disease, contractures, hypertensive crisis (25-35%), less pulmonary fibrosis, underlying CA, myopathy and cardiac disease, GAVE (gastric antral vascular ectasia)

U1-RNP: Limited > diffuse, SLE overlap, inflammatory arthritis, myositis , PAH, ILD (thrombocytopenia

29
Q

3 stages of SS

A

Oedematous: inflammation, fingers swollen
Sclerotic: early collagen deposition with varied inflammation, skin thickens = sclerodactyly. Tethering of skin, anhidrosis, dry, face: mask liked, lips thin, smaller oral aperture, radial fissures around mouth, ridging/tightening of neck
Atrophic: scar, skin thins (too late to tx)

30
Q

Non skin findings of SS

A

Systemic
GIs most common – decreased motility
Pulmonary fibrosis & htn – greatest cause of mortality (rapid onset diffuse skin disease –poor prognostic marker), associated with autoantibody profile Scl70 Ab
Renal hypertensive crisis – high morbidity (can be precipitated by high dose pred >10mg)
Myositis and arthritis are common

31
Q

Tx of SS (not the raynauds)

A 
Inflammatory: 
MTX 15-25mg once weekly – can have pulmonary side effects but is 1st line 
MMF (add or switch) 2-3g daily 
Cyclophosphamide oral or IV
AZA 2-3mg/kg/day – not If concurrent ILD
IVIG2g/kg/month
Sirolimus (8 cases)
Tocilizumamb (2 cases)
Rituxumab 
Imatinib: oedema 80%, serious ADR tachyarrhythmia/cardiomyopathy

Phototherapy – care in SSA (ro) disease
UVB 290-320 – not deep enough
UVA1 & PUVA (320-400nm) penetrate deeper
Both PUVA and UVA1 providign benefit in SSc

32
Q

Tx of raynauds

A

ORAL nifedipine 10-20mg tds 1st line or amlodipine 2.5mg daily

  • Or sildenafil
  • Topical 2% GTN paste – all fingers if on 2 fingers, and these dilate, others will snap into vasospasm
  • Losartan 50mg/day
  • Fluoxetine 20-40mg/day for borderline low BP
  • Iloprost
  • Avoid cold, core and hand warmers, avoid caffeine, avoid nicotine
  • Botox

Tx Digital ulcers

  • Calcium channel blockers or sildenafil for prevention and active ulcer
  • IV iloprost
33
Q

Treatment of renal problems in SS

A

ACEI

34
Q

What do you expect if hypertensive in SS

A

Renal crisis

35
Q

Primary raynauds

A
  • Triggered by cold/stress
  • Symmetric
  • No tissue injury
  • No identifiable secondary cause
  • Normal nail fold capillaries
  • Normal ESR
  • Negative serologic findings eg ANA
36
Q

Secondary raynauds

A
  • SEVERE pain
  • Necrosis
  • Pterygium inversum, onycholysis, dilated nail fold capillaries, elevated ANA, >30
37
Q

DDx of morphea

A 
Sclerosis at injection sites
Lipodermatosclerosis
Chronic GVHD
Stiff skin syndrome 
Carcinoma en cuirasse
morpheaform sarcoidosis
morpheaform BCC
Radiation induced morphed
38
Q

DDx of scleroderma

A 
Generalised morphea
Nephrogenic systemic fibrosis 
Paraneoplastic eg POEMS
Sclerodema 
scleromyxoedema 
Chronic GVHD
Diabetic cheiroarthropathy
PCT
Eosinophilia myalgia syndrome (L tryptophan)
Toxic oil syndrome
Drugs: Bleomycin, Taxanes, Vinyl chloride
Lipodermatosclerosis
Eosinophilia fasciitis 
Genetic: Restrictive dermopathy
Hutchinson-Gilford
Werner
Stiff skin 
Phenylketoniuira
Winchester
Ataxia-telangiectasia
Huriez
H syndrome
39
Q

Eosinophilic fasciitis

A 
Aka Schulman syndrome 
Peau d’orange and groove sign (linear depression overlying veins), extremely painful on onset
30% of morphea plaques elsewhere
Carpal tunnel common
Joint contracture

Followed use of L tryptophan, rapeseed oil, extreme exertion 30%, autoimmune (thyroid), atorvastatin, hypercalcaemia. Rapid onset
Eosinophilia in 60-80%, high ESR, hypergammaglobulinaemia , predominance of pathology of fascia – MRI
Can be associated with myeloproliferative disorder, pancytopenia, anaemia, thrombocytopenia.
Aldolase can be a marker for activity.

40
Q

Eosinophilic fasciitis histology

A

Histo: thickening of deep fascia (10-50x normal), patchy infiltrate of lymphocytes, plasma cells and often eosinophils and mast cells in the fascia and subfascial muscle. Not all bx will have eos.

41
Q

Tx of eosinophilia fasciitis

A

MRI, Bx, Haem for bone marrow. Systemic steroids –start therapy early or MTX, AZA, MMF. 2nd line: HCQ, allopurinol, colchicine.Physio Physical therapy in all. Xerosis Mx.

42
Q

Relapsing polychondritis Dx

A

1) Histo chondritis in 2 of 3 sites:
- Auricular, nasal, laryngotracheal OR
2) Chondritis in 1 of the previous and 2 other features:
- Ocular inflammation, audiovestibular damage and inflammatory arthritis

43
Q

Clinical features of relapsing polychondritis

A

Immunological reaction against type II collagen, also type IX, and XI.
Erythema, swelling and pain of cartilaginous portion of the auricle, sparing the earlobe
Days to weeks and may affect EAM
Chronic inflame can lead to destruction of cartilage
-90% will develop auricular involvement, presenting sign in 20%
- nasal chondritis in 70%- saddle nose (Men)
- involvement of resp tract/chostochondral joints 50%
-Arthritis in 50-80%
-ocular inflammation in 65%
- aphthae and small vessel vasculitis – more likely associated with myelodysplasitc
Associated with other autoimmune disorders (25-30%) and with myelodysplastic syndromes

44
Q

Mixed connective tissue

A

High titre IgG anti U1 ribonuclear protein antibodies, raynauds, swollen hands or sclerodactylyl, myositis, oesophageal dysmotility and arthritis

45
Q

Mixed connective tissue cf SLE

A

Lower incidence of renal disease cf sle, higher incidence of pulmonary disease
Most serious complication si pulmonary hypertension

46
Q

RA

A

Nodules 20%
Rheumatoid vasculitis 2-5%, nut autopsy up to 1/3
Bywater lesions – small vessel lcv, nailfold throboses, pupuric papules on distal digits
Felty: granulocytopenia, splenomegaly, therapy resistant leg ulcers (often pretibial)
Predisposed to infection and lymphomas, leukemias
Ulcers
Neutrophilic dermatoses

47
Q

Interstitial granulomatous dermatitis with arthritis

A 
Erythematous plaques (often with an annular configuration) or linea3r cords (rope sign) that favour lateral trunk, axilla, buttocks, medial thighs and groin 
Usually occurs in women with RA, seronegative arthritis or polyarthralgias and autoimmune thyroiditis
48
Q

palisaded neutrophilic and granulomatous dermatitis.

A

Symmetrically distributed umbilicated papules favouring the elbows and extensor surfaces of digits in patients with disorders such as RA, SLE, wegeners. May extrude necrobiotic collagen
Histo: small vessel vasculitis with prominent n and leukocytoclasis to palisading granulomas. Both stages have basophilic degenerated collagen

Chapter 51 connective tissue diseases Melissa (3 decks)

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