2. HISTORY
1825- Parry described Parry Romberg
syndrome
1846- Romberg described the same
1868- Fagge- described similarities
between keloids and scleroderma;
described different forms- including en
coup de sabre
1871- Eulenberg termed- Progressive
hemifacial atrophy
3. DEFINITION
Hard skin because of excessive accumulation of Collagen
LS – also known as morphoea
Better prognosis than systemic scleroderma
4. EPIDEMIOLOGY
Localised scleroderma – 0.34 to 2.7
cases / 100000 per year
More common in whites
In Children- 50/100000
• CARRA- LS 17 times less
common than JIA
• 3 times less common than SLE
• Most present in 1st decade
• Age of onset – 6.4 to 10.5 year
• F:M = 1.7- 3.7 : 1
5. EPIDEMIOLOGY
Linear scleroderma 51- 74%
Circumscribed morphoea 15 – 36.8%
Mixed morphoea 3- 23 %
Pansclerotic morphoea 5 in 1100 of
juvenile LS
Adults :
Circumscribed morphoea >
Generalised morphoea >
Linear scleroderma >
Mixed morphoea >
Pansclerotic morphoea (rare)
6. EPIDEMIOLOGY
Median duration between initial symptom onset and
diagnosis – 11- 21.6 months
For 30 % diagnosis is not made even after 5 years of
symptom onset
Varying clinical presentation
Rarity of the disease &
8. Etiopathogenesis
DEVELOPMENTAL ETIOLOGY :
• Along Blaschko lines;
• Early mutation in rostral neuro
ectoderm Progressive hemifacial
atrophy;Cerebral dysgenesis
• Co exist with sturge weber syndrome ,
intracranial hamartomas suggests
neuroectodermal origin of the CNS
disease :
GENETIC ROLE :
• HLA Class I and HLA Class II alles –
associated with various subtypes of Localised
scleroderma.
• HLA B*37 and DRB*04:04 strongest
association
9. Etiopathogenesis
DEVELOPMENTAL ETIOLOGY :
• Along Blaschko lines;
• Early mutation in rostral neuro
ectoderm Progressive hemifacial
atrophy;Cerebral dysgenesis
• Co exist with sturge weber syndrome ,
intracranial hamartomas suggests
neuroectodermal origin of the CNS
disease :
GENETIC ROLE :
• HLA Class I and HLA Class II alles –
associated with various subtypes of Localised
scleroderma.
• HLA B*37 and DRB*04:04 strongest
association
10. Etiopathogenesis
AUTOIMMUNE ROLE :
• ANA 26 TO 59.4%
• SPECKLED, HOMOGENOUS AND
NUCLEOLAR PATTERN
• Anti histone Anti ssDNA - correlate with
severity of disease
• +ve ANA predicts likelihood of
recurrence
• RF – 16- 29% of patients
Auto antibodies
Concurrent Auto immune condition
Family H/o Autoimmune conditions
11. Etiopathogenesis
IMMUNE ROLE :
• TH- 1, TH 17 pathways in early stages
• TH- 2 – IL-4,6,8,13 correlate more with
tissue damage and fibrosis
• :
Auto antibodies
Increased cytokines, receptors, adhesion molecules
CSF – IgG elevated, oligoclonal bands
Response to immune suppressants
13. Etiopathogenesis
• DRUGS- Bisoprolol, Beomycin, Bromocriptine, Carbidopa, d-Pencillamine, Ergot, Anti TNF
alpha
• Local contusion- Al adsorbed extracts for allergy desensitisation, mepivacaine, pentazocine,
vaccination, B12 and vitamin K, radiation, insect bite
• 23- 35.7% preceding injury
• Trauma – associated with Parry Romberg syndrome.
14. CLINICAL FEATURES
• Early- Erythematous to violaceous plaques
Skin texture and thickness – normal
• Followed by – fibrosis induration with central white to yellow, waxy area
surrounded by erythematous violaceous marigin/ lilac ring.
• Later – Post inflammatory hyper/hypo pigmentation
Atrophy of epidermis- shiny skin with visible venous pattern
Atrophy of dermis- loss of hair follicles, adnexal structure & cliff drop atrophy
Subcutaneous tissue- loss of fat
And
Progressive skin thickening
15. CLINICAL FEATURES
• Extra cutaneous manifestations- subtype and lesion location.
Growth defects Reduced growth of extremeties, trunk, face, head Linear scleroderma
Neurological Headache, seizure,Cranial Nerve palsies, slurred speech,
trigemial neuropathy, Movement disorders, Neuropsychiatric
symptoms,Cavernoma, CNS vasculitis
Linear scleroderma of head
Ocular Fibrotic change in eyelids,lash, lacrimal gland, diplopia,
hemianopia, ptosis, keratitis, strabismus, acquired glaucoma,
enophthalmos, orbital myositis, mydriasis, papilloedema
Head and face involvement of Lineear
scleroderma, ECDS, Progressive
hemifacial atrophy
Face Dental malocclusion, Paranasal sinus defect, Delayed
eruption, Root resorption,Impaired mandibular movement,
Masticator spasm, Hemiatrophy of tongue
Half of children with Parry Romberg
syndrome
GI GER, Dyspnea, Chronic cough, respiratory insufficiency,
restrictive pattern, Conduction Abnormalities, Ventricukar
premature beats, RBBB
Pansclerotic morphoea
16. CLINICAL FEATURES
Face Dental malocclusion, Paranasal sinus
defect, Delayed eruption, Root
resorption,Impaired mandibular
movement, Masticator spasm,
Hemiatrophy of tongue
Half of children with Parry Romberg
syndrome
GI, RS, CVS GER, Dyspnea, Chronic cough,
respiratory insufficiency, restrictive
pattern, Conduction Abnormalities,
Ventricukar premature beats, RBBB
Pansclerotic morphoea
Musculoskeletal Oligo arthritis, Poly
arthralgia,Muscle atrophy, myositis,
spasm, osteomyelitis, bone & soft
tissue growth defects,
Soft tissue calcification,secondary
osteoporosis
Linear scleroderma of limbs,
pansclerosis, Generalised deep
morphoea
17. PATHOLOGY
• HPE Useful but not done for diagnosis
• Taken from relatively active border – warm, red, infiltrative lesion
• Reveals- peri vascular, peri adnexal infiltrates, - lymphocytes, plasma cells and few
eosinophils.
• ECDS- Vacuolar degeneration at the dermo epidermal junction;
• Perineural lymphoplasmacytic infiltration in alopecia.
18. PATHOLOGY
• HPE Useful but not done for diagnosis
• Taken from relatively active border – warm, red, infiltrative lesion
• Reveals- peri vascular, peri adnexal infiltrates, - lymphocytes, plasma cells and few
eosinophils.
• ECDS- Vacuolar degeneration at the dermo epidermal junction;
• Perineural lymphoplasmacytic infiltration in alopecia.
19. PATHOLOGY
• HPE Useful but not done for diagnosis
• Taken from relatively active border – warm, red, infiltrative lesion
• Reveals- peri vascular, peri adnexal infiltrates, - lymphocytes, plasma cells and few
eosinophils.
• ECDS- Vacuolar degeneration at the dermo epidermal junction;
• Perineural lymphoplasmacytic infiltration in alopecia.
20. MAYO CLASSIFICATION
BULLOUS MORPHOEA
GENERALISED MORPHOEA
PLAQUE MORPHOEA
LINEAR MORPHOEA
DEEP MORPHOEA
Includes some subtypes which are not universally accepted – Atrophoderma of Pasini and pierini,
Lichen sclerosus et atrophicus,Eosinophilic fasciitis
It omits mixed morphoea- 15- 23% of Juvenile LS
31. ASSOCIATED CONDITIONS :
LICHEN SCLEROSUS ET ATROPHICUS :
• Violaceous discoloration progressing
to shiny , white superficial plaques;
• Genital Involvement – Hourglass
appearance- discoloration in vaginal
and perianal area
• Accompanied by burning/itching
Seen in Circumscribed and generalised
morphoea
33. ASSOCIATED CONDITIONS :
EOSINOPHILIC FASCITIS:
Primary fascial involvement-
hypergammaglobulinemia, eosinophilia
and high inflammatory markers
Painful swelling, progressive induration
and thickening of skin- Peau d’ orange
appearance
Involves extremeties- hands, feet
34. DIFFERENTIAL DIAGNOSIS
LOCALISED SCLERODERMA SYSTEMIC SCLEROSIS
Usually Unilateral Bilateral
Less extensive Extensive
Pattern- Generalised morphoea –
involves entire back,
hands feet usually less commonly
involved
Spares back, Finger and hand
involvement
Relatively Good Prognosis Poor Prognosis
35. DIFFERENTIAL DIAGNOSIS
• Deep morphoea involving hands- can cause arthralgia ,contracture of hands,
synovitis
• Antihistone antibodies, No erosive bone disease, Elevated muscle enzymes,
Eosinophilia – differentiates from JIA
36. DISEASE MONITORING :
SKIN ACTIVITY
ERYTHEMA
0- No
1- slight erythema
2- red/ clear erythema
3- dark red/violaceous
SKIN THICKNESS
0- NORMAL THICKNESS/ FREELY MOBILE
1- MILD INCREASE OF THICKNESS/ SKIN MOBILE
2- MODERATE INCREASE OF THICKNESS/ IMPAIRED SKIN MOBILITY
3-MARKED INCREASE OF THICKNESS/ IMPAIRED SKIN MOBILITY
NEW LESION/
LESION EXTENSION
Within the past
month (score of 3 )
mLOSSI
37. DAMAGE
DERMAL ATROPHY
0- NORMAL THICKNESS/ FREELY MOBILE
1- MILD INCREASE OF THICKNESS/ SHINY
SKIN
2- MODERATE ATROPHY/MILD CLIFF DROP
OR VISIBLE VESSELS
3- SEVERE ATROPHY /OBVIOUS CLIFF
DROP SIGN
SUBCUTANEOUS ATROPHY
0- NORMAL SUBCUTANEOUS THICKNESS
1- FLATTENING OR 1/3RD FAT LOSS
2- OBVIOUS CONCAVE SURFACE( 1/3RD – 2/3RD FAT LOSS)
3- SEVERE SUBCUTANEOUS FAT LOSS (>2/3RD FAT LOSS )
DYSPIGMENTATION
0- NORMAL SKIN
1- MILD
2- MODERATE
3- SEVERE
DYSPIGMENTATION
LOSDI
40. Semiquantitative clinical scoring systems :
Advantages :
Easy to use
Disadvantages :
• Subjective
• Arbitrary scoring weights
• Possible limited sensitivity – both activity and damage
features are combined
mLOSSI,MSS,LOSDI
41. Quantitative scoring systems :
Advantages :
• Quantitative method
• Evaluates changes in lesion size according to normal growth
Disadvantages :
• Focuses on monitoring one lesion
• Cost
• Site of involvement
COMPUTERISED SKIN SCORE :
42. Quantitative scoring systems :
Advantages :
High sensitivity for detecting high sensitivity for detecting higher surface
temperature in active and inactive lesions
Quantitative method
Disadvantages :
Low specificity for facial, scalp, lesions with marked atrophy of the underlying soft
tissue.
INFRARED THERMOGRAPHY :
43. QUANTITATIVE SCORING SYSTEMS :
LASER DOPPLER IMAGING :
Evaluates much larger anatomic area and does not require skin
contact ;
In IT, LDF, LDI – Patient acclimitization in a temperature
controlled room prior to imaging.
LASER DOPPLER FLOWMETRY :
Dermal blood flow, similar sensitivity but better specificity than IT ;
44. HIGH FREQUENCY ULTRASOUND :
hyperechogenecity in dermis, hypodermis and muscle to be associated with
activity .
Increased color doppler signal – hyperemia- associated with activity in
pediatric and adult patients.
DISADVANTAGES :
Operator dependant
compared to unaffected site;
45. ROLE OF MRI :
CRANIOFACIAL LS AND NEUROLOGICAL SYMPTOMS – MRI WITH
GADOLINIUM
White matter hyperintensities, abnormal gyral pattern, blurring of gray
white marigin,Cerebral atrophy
MUSKULOSKELETAL INVOLVEMENT :
Fascial thickening enhancement, articular synovitis, tenosynovitis,
perifascial enhancement, myositis and enthesitis
46. TREATMENT :
SUPERFICIAL CIRCUMSCRIBED MORPHOEA :
Topical glucocorticoids, vitamin D analogs
Tacrolimus 0.1% ointment or imiquimod;
METHOTREXATE :
In moderate to severe disease-
15mg/m2/week, maximum 20 mg
2.8 fold low flare rates;
-initial 4 months course of prednisolone
1mg/kg/day
50. TREATMENT :
PHOTOTHERAPY :
Antifibrotic and immunosuppressive effects;
Increases expression of collagenases, decreases collagen synthesis and proinflammatory
cytokines and causes Tcell apoptosis
PUVA- greater penetration than PUVB; Reduces Skin Hardness ;
Only upto hypodermis
Not recommended for deep/ subcutaneous tissue involvement;
Long term side effects- Carcinogenesis and skin aging
OTHER MEASURES :
Moisturisers
Botulinum toxin- facial hemidystonia, myokymia, Thoracic outlet obstruction
Surgery- only in inactive disease
51. TREATMENT :
PANSCLEROTIC MORPHOEA :
Deep, extensive rapidly progressive disease
Usuallu fails to respond to MTX,Corticosteroids, and cyclophosphamide
Develop calcifications, ulcerations, secondary osteoporosis, flexion contractures and disability
Benefit from combination of photochemotherapy, ATG, Cyclosporine
52. TREATMENT :
EOSINOPHILIC FASCITIS :
Usually IV and oral Corticosteroids;
Combination initial treatment with Methotrexate,or MMF and corticosteroids- reduce cumulative
steroid toxicity
IvIG, infliximab, rituximab, cyclosporine, Dpenicillamine, phtotherapy, dapsone and allogenic HSCT-
beneficial
