2. Definition
• Scleroderma is a chronic disease of unknown etiology
that affects the microvasculature and loose
connective tissue and is characterized by fibrosis of
the skin and internal organs.
4. Systemic sclerosis
• Limited (skin thickness confined to the distal extremities,
below the elbows and knees)
• Diffuse (skin thickness extending proximal to the elbows and
knees)
Note: Facial skin involvement can occur in both forms of systemic
scleroderma
5. Localized scleroderma or morphea
According to the clinical presentation and depth of tissue
involvement
1. Plaque
2. Generalized
3. Bullous
4. Linear
5. Deep
6. Localized Scleroderma (Morphea)
• Localized form of scleroderma
• Excessive collagen deposition leading to thickening of the
dermis and subcutaneous tissues
7. Plaque Morphea
• Most benign subtype and includes the guttate and keloidal
(nodular) variants.
• characteristically appears as one or several, well
circumscribed, oval or round, firm, indurated plaques of
variable size often better felt than seen.
• Lesions appear more commonly on the trunk than on the
extremities and the flexures.
9. Guttate morphea
• Lesions are small (<1 cm)
• Multiple
• Whitish classic plaques with less induration
• They may resemble lichen sclerosus clinically, but epidermal
atrophy and follicular plugging are not seen on
histopathology.
10. keloidal (nodular) morphea
• In keloidal (nodular) morphea the lesions are well-defined
• Sclerotic papules and plaques resembling keloids.
• Typical plaque-type morphea may also be present. The chest
is the most commonly involved site.
11. Bullous Morphea
• Tense subepidermal bullae can occur overlying typical morphea
lesions.
• Lymphatic obstruction from the sclerodermatous process is
considered the likeliest cause.
• Bullous morphea may be confused clinically with lichen sclerosus et
atrophicus since both diseases may cause bullae in sclerodermatous
plaques
12. Linear Morphea
• Develops in the first two decades of life and more commonly
in females.
• Clinically it presents as a single unilateral linear band, with
hardening of the skin and pigmentary changes.
14. Generalized Morphea
• Onset third or fourth decade.
• Female preponderance is observed in a ratio of 3:1
• The individual lesions of which resemble plaque type morphea but
are much larger. The trunk and proximal extremities are commonly
involved while facial involvement is uncommon
• The lesions can be pansclerotic. If the chest wall is extensively
involved, or if there is pansclerotic involvement of intercostal
muscles, restrictive pulmonary function abnormalities may be
observed
16. Investigations
• Blood and tissue eosinophilia is common in all forms of
morphea
• ESR may be raised
• ANAs positive in 40% of patients
• Anti-ss DNA antibodies are commonly associated with
plaque type (25%), linear (50%) and generalized (75%)
morphea.
• 40% of patients have a positive RA factor
• Antihistone antibodies are present in 50% of patients and in
85% of those with generalized morphea.
17. • Deep punch biopsy
• High frequency B scan ultrasonography (20 MHz) can
determine the depth and extent of sclerosis.
18. Treatment
• Super potent topical corticosteroids
• Intralesional corticosteroids (triamcinolone acetonide, 5–10 mg/ml)
• Topical calcitriol and calcipotriol
• Imiquimod cream 5%
• Emollients
• Systemic treatment with corticosteroids alone is often effective in the
inflammatory stages of the disease but it does not appear to affect
the fibrotic stage.
• Methotrexate(15 mg/wk) has been used alone or with daily oral or
pulsed high-dose intravenous methylprednisolone (1000 mg for 3
days monthly) in severe localized scleroderma
19. Systemic sclerosis
• Systemic sclerosis or scleroderma (SSc) is a chronic
multisystem disease of unknown etiology characterized by
skin in duration and thickening, accompanied by fibrosis and
chronic inflammatory infiltration of internal organs,
microvascular damage and dysfunction, and immune
dysfunction.
20. • SSc is predominant in females, with the female-to-male ratio
ranging between 5:1 and 14:1.
• The age of onset is most commonly in the range of 30–50
years.
• SSc is uncommon in children younger than 13 years
24. Classification criteria for systemic sclerosis developed by
the American Rheumatism Association
• Systemic sclerosis is considered to be present if the single
major criterion or two of the three minor criteria
1. Major criterion
• Symmetric skin thickening proximal to the
metacarpophalangeal or metatarsophalangeal joints
25. 2. Minor criteria
i. Sclerodactyly (this includes the above major criterion but is
limited to only the fingers);
ii. Digital pitted scars or loss of fingertip pulp;
iii. Bibasilar pulmonary fibrosis (a bilateral reticular pattern of
linear or lineonodular densities most pronounced in the
basilar portions of the lungs)]
• The addition of Raynaud’s phenomenon and nailfold capillary
microscopy and SSc selective antibodies as additional minor
criteria improve the sensitivity of these criteria.
26.
27. Clinical Features
• Raynaud’s Phenomenon and Vascular Changes (most
common finding in systemic sclerosis, present in more than
95% of patients.)
• Cold, smoking, or emotional stress may trigger
• The characteristic sequential color changes of pallor,
cyanosis, and redness (white, blue, red), accompanied by
tingling, numbness or pain.
28. • Nail fold capillary microscopy demonstrates fewer capillaries
than normal (i.e. capillary loop drop) and numerous dilated,
tortuous capillary loops. These findings are typical for
scleroderma and correlate with Raynaud’s phenomenon,
digital pitted scars, and low finger temperature.
29.
30. Skin
• Hands, face, and lips are the most frequently affected
• Three phases of dermal involvement can be distinguished:
a. An edematous phase (puffy fingers)
b. An indurative phase (taut, hidebound skin)
c. An atrophic phase (softened skin).
31. Skin changes
• Hair loss, decreased sweating, and loss of the ability to make
a skin fold
• In diffuse cutaneous scleroderma, it may become
generalized, first involving the extremities, and then the face
and trunk
• Other skin manifestations include pigmentary changes,
telangiectasia's, and calcinosis
32.
33.
34. Musculoskeletal Changes
• Generalized arthralgias
• Morning stiffness affecting both small and large joints
• Finger contractures
• In diffuse scleroderma
a. Rapid development of hand swelling and sclerotic changes
of the overlying skin or surrounding connective tissue can
lead to severe flexion contractures with claw-like hand
deformities and severe disability.
35. Other bone changes
• Juxta-articular osteoporosis
• Osteopoikilosis
• Avascular necrosis of the femoral head
• Carpal tunnel syndrome can be the presenting symptom in early
diffuse scleroderma.
• The juxta-articular tendons of the fingers, forearms, legs, and neck
can be altered by fibrosis causing audible friction rubs as the tendon
is moved actively or passively
36. Gastrointestinal Tract
• Esophagus is involved in more than 90% of cases, with dysmotility
and reflux.
• Chronic esophagitis may lead to ulceration, bleeding and strictures.
• Hypomotility of the duodenum results in postprandial abdominal
pain, bloating, regurgitation, or vomiting, and that of the small and
large intestines, recurrent pseudoobstruction or malabsorption (due
to bacterial overgrowth) with diarrhea and weight loss.
37. Lungs
• Lung involvement in SSc is seen in 40% to 90% of patients.
• Pulmonary complications-
i. Interstitial fibrosis (diffuse SSc)
ii. Pulmonary vasculopathy (frequently in limited SSc)
38. Myopathy
Myopathy can occur in two different forms:
i. Non inflammatory fibrotic myopathy (60%–80%) (characterized by
mild weakness and a minimally elevated creatine kinase)
ii. Inflammatory myositis (6%–12%) (elevated levels of serum creatine
kinase and aldolase, and PM-Scl antibodies) indistinguishable from
polymyositis. The muscles of the forearms and hands are involved
as well as the proximal muscles.
39. HEART
• Myocardiopathy is the most serious cardiac complication, occurs
primarily in diffuse scleroderma patients.
• Cardiac fibrosis
• Arrhythmias (paroxysmal atrial tachycardia, atrial fibrillation, and
ventricular tachycardia)
• Conduction abnormalities(complete A-V block)
40. Kidneys
• Renal involvement has the worst prognosis and highest
mortality of all internal organs involved.
• Patients with early (less than two years of symptoms) diffuse
scleroderma with rapidly progressive skin thickening are at
greatest risk for acute renal crisis, which is characterized by
malignant arterial hypertension with headache, vision
disturbances, cramps, left ventricular hypertrophy and
retinopathy.
41. Investigations
• Laboratory tests in systemic sclerosis can be broadly divided
Into-
i. Those to confirm the diagnosis
ii. Detect systemic involvement
iii. Determine the long-term prognosis
43. Skin biopsy
• Thinned epidermis
• Extensive fibrosis of the lower two-thirds of the dermis and extending
into the panniculus, replacing the subcutaneous fat.
• A perivascular mononuclear cell infiltrate may precede fibrosis.
• The collagen bundles appear pale, homogeneous and swollen.
• In later stages, a significant inflammatory cell infiltrate is not
observed; this is in contrast to morphea, where a prominent
inflammatory cell infiltrate is present.
• The number of adnexal structures is reduced, another characteristic
feature, and the epidermal rete ridges are effaced.
44. • Chest X-ray (shows increased interstitial markings; with
increased fibrosis, a cystic transformation takes place,
representing the so-called honeycomb lung.
• Pulmonary function tests may show restrictive changes with
a decreased forced vital capacity (FVC) and total lung
capacity and a low carbon monoxide diffusion capacity
(DLCO).
45. • Upper gastrointestinal motility studies- Esophageal
involvement is diagnosed by barium swallow (which shows a
stiff glass tube appearance), esophageal manometry and
radionuclide scan.
• Heart- Radiological abnormalities include general
enlargement of the heart, left ventricular hypertrophy, and
triangular outline. Myocardial perfusion scintigraphy,
ventriculography and echocardiography are the most
sensitive techniques for detection.
46. • RENAL-
• Renal function tests
• Diagnostic criteria
i. Proteinuria (<1g/24 h)
ii. Azotemia (blood urea nitrogen >25 mg/100 ml)
iii. Arterial hypertension (>140/90 mmHg)
iv. Reduction of the glomerular filtration rate
47. Detect systemic involvement
• Anemia may be found in patients with renal failure, malabsorption, or
gastrointestinal bleeding.
• ESR may be raised.
• False positive VDRL can be found in 5% of patients.
• Anti-cardiolipin antibodies are found in approximately one fourth of
the patients with severe involvement.
• Rheumatoid factor is positive in around 30% of patients.
48. Determine the long-term prognosis
• Antinuclear antibodies (ANAs) have been detected in approximately
85%–98% of patients during the course of the disease.
• There are three main subgroups of autoantibodies:
i. Anti-centromere antibody
ii. Anti-DNA topoisomerase 1 (anti-topo 1) antibodies (also known as
anti–Scl-70)
iii. Anti-RNA polymerase 3 (RNAP III) antibodies.
• Each of them can be detected in 20%–25 % of patients
49. Management
• Early diffuse SSc is satisfying as this subgroup of patients has
the greatest risk of rapid disease progression, severe organ
involvement, and death.
• Long-standing cutaneous and visceral involvement do not
respond satisfactorily to treatment. One should determine
which organ systems are involved before deciding on the
appropriate therapy.
50. SKIN
• Topical corticosteroids
• Oral antihistamines
• Tricyclic antidepressants
• Trazodone
• PUVA
• Xerosis- Emollients
• Telangiectasia-laser treatment.
• Systemic Corticosteroids are not effective in improving or preventing
the progression of skin involvement in SSc. They may increase the risk
of triggering scleroderma renal crisis.
51. • Calcinosis-
i. Anticoagulants
ii. Colchicine
iii. Intralesional steroids
iv. Bisphosphonates
v. Chelation therapy
vi. Calcium channel blockers
vii. Surgical excision and the CO2 laser
52. Raynaud’s Phenomenon
• Precipitating factors, such as cold exposure, should be avoided
• Warming up of hands for five minutes every four hours in a warm
water bath
• Alpha 1-antagonists ( Prazosin)
• Calcium channel blockers (CCBs)(Nifedipine 10 mg t.i.d., amlodipine)
Nifedipine improves digital blood flow and finger temperature and
induces healing of digital ulcers
• ACE inhibitors (captopril 75–150 mg/day)
53. Gastrointestinal Tract
• Healthy habits and lifestyle modifications
• Esophageal dysmotility-
i. Metoclopramide, 10 mg before each meal and at bedtime
ii. Cisapride (10 mg t.i.d. prior to meals)
iii. Ranitidine (150 mg b.i.d. prior to meals )
iv. Omeprazole (20–60 mg/d. b.i.d prior to meals )
54. Disease Modifying Agents
• Antifibrotic Agents [D-penicillamine (DPA) 750 to 1,000
mg/day]
• Relaxin is an antifibrotic pregnancy-related hormone
• Colchicine (0.5 mg b.i.d.–t.i.d.) has been suggested for the
treatment of SSc since it may improve skin elasticity, mouth
opening, finger motility and reduction in dysphagia. It is also
effective in calcinosis.
