CONNECTIVE TISSUE
DISEASES
DR C HLELA
DERMATOLOGY DEPARTMENT
INTRODUCTION
etiology - unknown
environmental and genetic factors -
disease expression
antibodies to normal tissue and cellular
components – immune mediated
OVERVIEW
• LUPUS ERYTHEMATOSUS
• DERMATOMYOSITIS
• SCLERODERMA
• MIXED CONNECTIVE TISSUE
DISEASE
• RHUEMATOID ARTHRITIS
• OVERLAP YNDROME
LUPUS ERYTHEMATOSUS
CLASSIFICATION
Acute (Systemic) LE
Subacute LE
Chronic LE – local
disseminated
ACUTE (SYSTEMIC) LE
• multisystemic disease - CT + blood
vessels
• autoantibodies against cellular
components e.g.. DNA, nuclear proteins
and other antigens
• immune complex deposition – DE junction
result in tissue injury
SLE
• onset : age 30/40
• male:female ratio 1:8
• drug induced : hydrallazine,
anticonvulsants,procainamide
• sun exacerbation
Extracutaneous involvement
Haem : pancytopenia
Joints : arthralgia/arthritis
• Renal disease
• Heart : pericarditis
• Lung : pneumonitis
• GIT : sterile
peritonitis,hepatomegaly,splenomegally
CNS : peripheral neuropathy, siezures
SLE
Course
transient / continous / recurrent
correlate well with activity of the disease
Differential
• Malar Rash – sunburn , PLE
• DLE/SCLE – psoriasis
• Alopecia – telogen effluvium
Investigations
• Full physical examination
• ANA + (>95%)
• ESR elevated
Anaemia : chronic dx or heamolytic
Leucopenia and thrombocytopenia
Complement -low
Further investigation
• urine analysis – proteinuria,haematuria,
casts
• skin biopsy
• tests for function of other organs
Treatment
• systemic steroids - mainstay
• immunosuppressives
• specific Rx : antihypertensives
• intravenous immunoglobulins
SUBACUTE LUPUS
• variant of LE
• young and middle aged female
• antibodies against Ro(SSa) on basal cells
Course
• slow to clear
• heal without scarring
• systemic disease frequent
Neonatal LE
• children of mothers with CT disease
• annular plaques
• permanent heart block
Differential
• Psoriasis
• Widespread DLE
• T Corporis
Evaluation
• Same as for SLE
• ANF + in 60% of pats
• Antibodies to Ro often present
Treatment
Antimalarials
Systemic steroids
DISCOID LE
• Chronic skin disease characterised by
sharply marginated, scaly atrophic,red
plaques in sunexposed areas
• Onset : 20- 50yrs
• Females > males
• Duration : months to yrs
• Symptoms : none
Course
• patients remain well
• may spread relentlessly
• scarring – common
• alopecia – may be permanent
• leucoderma
• progression to LE (1-5%)
Evaluation
ANA low titers
Leucopenia
Skin biopsy
Differential
psoriasis
actinic keratosis
lichen plaques
Treatment
• potent topical steroids
• intralesional steroids
• oral antimalarials
• sun avoidance
DERMATOMYOSITIS
• systemic disease - cutaneous features +/-
internal organ involvement
• juvenile or over 40 yrs
• internal malignancy (pts >55 yrs)
• acute +chronic inflammation of striated
muscle+segmental necrosis of myofibres
Clinical Spectrum
cutaneous inflammation only - DM
muscle inflammation only – PM
skin and muscle involvement
Clinical presentation
• faint heliotrope discoloration – eyes
• flat topped papules over knuckles –
Gottrons papules
• streaks of erythema over extensor tendons
• malar erythema and oedema
• periungual telengiectasia
• hypo/hyperpigmentation on light exposed
areas
Course
Adults - prolonged
proximal muscle weakness progression
Arthralgia
Children - self limiting
Calcification - subcut/fascia,elbows,
troncanteric region
Complications
• permanent weakness
• immobility
• contractures
• cutaneous calcinosis
Differential
• Mixed connective tissue disease
• SLE
• Toxoplasmosis
• Steroid myopathy
Evaluation
History : difficulty combing hair,
rising from supine position,climbimg stairs, raising arms
over head, turning in bed,dysphagia
Photosensitivity
Examination : progressive muscle weakness affecting
proximal/limb girdle muscle
Chemistry : Creatinine phosphokinase, Aldolase, lactic
dehydrogenase
Urine : elevated 24 hour creatinine excretion
Laboratory
Electromyography : increased irritability,
spontaneous fibrillations, pseudomyotonic
discharges,positive sharp waves
• ECG : myocarditis,AF.AV block
• Xray Chest : interstitial fibrosis
• Skin biopsy
• Muscle biopsy
• Search for internal malignancy
Treatment
• systemic steroids
• immunosuppressive
• intravenous immunoglobulins
• long term follow up
SYSTEMIC SCLEROSIS
Definition
multisystem disorder – inflammatory,
vascular and sclerotic changes of the skin
+ various internal organs
Systemic Sclerosis
• Onset – 30-50 yrs
• Female : Male (4:1)
• Early - endothelial cell injury
• Later -overproduction of collagen - fibrosis
Systemic
Sclerosis(Scleroderma)
Classification
Limited Systemic Sclerosis
Diffuse Systemic Sclerosis
Limited SSc
hands and feet
forearms
face (acrosclerosis)
e.g CREST syndrome
systemic involvement – rare
Diffuse SSc
rapid onset
diffuse skin involvement
early systemic involvement
CREST
• Calcinosis - bony prominences,finger
tips,elbows and troncanteric region
• Raynauds phenomenon - long history
• Esophageal dysfunction-diminished
peristalsis , dysphagia
• Sclerodactyly-tapering ,waxy shiny fingers
• Telengiectasia
Clinical presentation
Face – diffuse hyperpigmentation
• Mat like telengiectasia
• Accentuated creases- forehead
• Loss of normal lines – looks younger
• Pinched beak like nose
• Small mouth (microsomia) with radial
furrowing
Clinical presentation
Hands
shiny indurated, tethered
claw like deformity – sclerotic hands
painful ulcerations – fingertips
Clinical ….
Fingers
flecks of calcium – extrusion
Raynauds phenomenon
sclerodactyly
periungual telengiectasia
loss of pulp substance
immobility, shiny and hard
Course
Skin : sclerosis proceed proximaly
Esophagus- dysphagia, diminished
peristalsis
Git- constipation,diarhoea,malabsorption
Lung – Pulm fibrosis,pulm fxn restriction
Heart –pericarditis,heart failure
Kidney– late,slowly progressive,uremia
malignant hypertension
Differential
Raynauds phenomenon
• chillblains
Sclerosis
• PCT
• MCTD
• Scleromyxoedema
Evaluation
• Clinical diagnosis
• ESR , ANA
• Skin biopsy
• Muscle enzymes
• Xray - hands
• Evaluation of other organs
Therapy
• Unsatisfactory
• CCF- nifedipine
• Systemic steroids
• Salicylates
• Antimalarials
• D- Penicilamine
• Phototherapy
• Physiotherapy
MIXED CONNECTIVE TISSUE
DISEASE
• unique syndrome – SLE,SSc + Myositis
antibodies to ribonucleoprotein ( U1RNP)
• other organ involvement - extensive
• develop to classical CTD
Clinical presentation
Raynauds phenomenon
swollen fingers
subcutaneous nodules
arthritis
renal
CNS
Overlap Syndrome
Combination of CT diseases
