Scleroderma

Populations and Risk Factors

• Women affected approximately 3–4:1 over men; onset most common between ages 30 and 55
• More common and more severe in African American women than in Caucasian women
• Genetic susceptibility: HLA-DRB1 alleles associated; familial clustering observed but inheritance pattern not Mendelian
• Environmental triggers hypothesized: silica dust, organic solvents, vinyl chloride, certain medications (bleomycin)
• Often occurs in overlap with other autoimmune conditions: lupus, rheumatoid arthritis, Sjogren syndrome, polymyositis (mixed connective tissue disease)
• Raynaud's phenomenon as an isolated finding precedes scleroderma in up to 95% of systemic cases — long-standing Raynaud's in a woman aged 30–55 warrants surveillance
• Pulmonary involvement (interstitial lung disease, pulmonary arterial hypertension) and renal crisis are the leading causes of death in systemic forms

Causes and Pathophysiology

Vascular Injury — The Initiating Event

• Endothelial damage: The disease begins with autoimmune-mediated injury to the endothelial cells lining small blood vessels. This damage activates the endothelium, increasing its permeability and causing local edema. Injured endothelial cells release endothelin-1 (a potent vasoconstrictor) and reduce production of nitric oxide (a vasodilator), creating a vasoconstrictive environment.
• Why Raynaud's appears first: The vasoconstrictive endothelial dysfunction manifests earliest in the digital arteries — the smallest, most peripheral vessels with the least collateral circulation. Cold exposure or stress triggers vasospasm in these already-compromised vessels, producing the classic triphasic color change: white (ischemia) → blue (cyanosis) → red (reperfusion). In scleroderma, Raynaud's is more severe than primary Raynaud's and may cause digital ulcers or tissue necrosis from prolonged ischemia.
• Microvascular obliteration: Over time, the repeated cycle of endothelial injury and repair leads to intimal fibrosis (vessel wall thickening) and progressive obliteration of the microvasculature. This reduces blood flow to the tissues, creating chronic tissue ischemia that further drives fibrosis.

Fibrosis — The Defining Pathology

• Fibroblast activation: Injured endothelial cells and activated immune cells (T-cells, macrophages) release cytokines — transforming growth factor-beta (TGF-beta) and platelet-derived growth factor (PDGF) — that stimulate fibroblasts to produce excessive type I and type III collagen. Once activated, fibroblasts become self-sustaining: they continue to produce collagen even after the initial immune stimulus diminishes.
• Three stages of skin fibrosis:

1. Edematous stage (early): skin appears swollen and puffy, particularly in the hands and fingers; digital pitting edema; range of motion may be preserved; this stage is potentially reversible
2. Fibrotic stage (intermediate): collagen deposits replace the edema; skin becomes thickened, tight, shiny, and bound down to underlying structures; cannot be lifted or pinched; ROM progressively restricted as the skin envelope tightens; facial skin involvement produces "stone facies" (mask-like expression) and microstomia (restricted mouth opening)
3. Atrophic stage (late): the skin thins from ischemia and becomes tightly bound, atrophic, and fragile; the fibrosis is permanent; contractures develop as skin tightening across joints restricts movement

• Why this matters for palpation: The skin fibrosis stages directly correspond to what the therapist will feel: early = puffy/edematous; intermediate = thick, tight, inelastic, cannot be lifted; late = thin, bound-down, fragile. Fascial mobility assessment is critical — the progressive loss of fascial glide is the measurable indicator of fibrosis progression.

Organ Involvement in Systemic Scleroderma

• Gastrointestinal (most common organ involvement, ~90%): Esophageal smooth muscle fibrosis reduces peristalsis and weakens the lower esophageal sphincter → dysphagia (difficulty swallowing), gastroesophageal reflux (GERD), and aspiration risk. Small bowel involvement causes malabsorption and bacterial overgrowth.
• Pulmonary (leading cause of death): Interstitial lung disease (pulmonary fibrosis) — progressive fibrosis of the lung parenchyma reduces gas exchange; pulmonary arterial hypertension (PAH) from vascular fibrosis increases right heart workload → right heart failure. Dyspnea on exertion is the presenting symptom.
• Renal (scleroderma renal crisis): Sudden onset of malignant hypertension from renal artery fibrosis — a medical emergency with risk of acute renal failure. ACE inhibitors are the specific treatment. Blood pressure monitoring is relevant to MT practice.
• Cardiac: Myocardial fibrosis can cause arrhythmias, conduction defects, and diastolic dysfunction; pericarditis in some patients.

Classification

Signs and Symptoms

CREST Syndrome (Limited Systemic Scleroderma)

• C — Calcinosis: Hard, white calcium deposits (calcium hydroxyapatite) in subcutaneous tissue, particularly fingertips and pressure points; can ulcerate through the skin; mask-like facial appearance
• R — Raynaud's phenomenon: Episodic vasospasm in digital arteries triggered by cold or stress → triphasic color change (white → blue → red); may cause digital ulcers, pitting scars, or gangrene in severe cases; typically the first symptom, preceding other features by years
• E — Esophageal dysmotility: Reduced peristalsis and lower esophageal sphincter incompetence → chronic heartburn, acid reflux, dysphagia; aspiration risk; malnutrition in severe cases
• S — Sclerodactyly: Fibrosis of the skin of the fingers and toes → tight, shiny, immobile skin; fingers become tapered and claw-like; loss of finger flexion from skin contracture; skin too tight to pinch
• T — Telangiectasia: Permanently dilated superficial blood vessels ("spider veins") on the face, lips, palms, and fingers; result of microvascular obliteration and compensatory dilation of remaining vessels

Progressive Skin Changes

• "Stone facies" — loss of facial expression from facial skin fibrosis; restricted mouth opening (microstomia)
• Shiny, tight, bound-down skin that progresses proximally from the hands in diffuse disease
• Difficulty writing, grasping objects, or performing fine motor tasks from sclerodactyly
• Digital ulcers and pitting scars on fingertips from chronic Raynaud's ischemia
• Linear scleroderma on the forehead ("coup de sabre") — localized form

Systemic Signs

• Dyspnea on exertion — suggests pulmonary fibrosis or pulmonary arterial hypertension
• Hypertension — may indicate renal involvement; sudden-onset severe hypertension suggests scleroderma renal crisis (medical emergency)
• Dysphagia — esophageal involvement
• Weight loss from malabsorption
• Joint stiffness and tendon friction rubs (palpable crepitus over tendons) from fibrosis of tendon sheaths

Assessment Profile

Subjective Presentation

• Chief complaint: "My fingers are stiff and hard — I can't make a fist anymore." "My hands turn white in the cold and it's getting worse." Patients often describe progressive skin tightening beginning in the fingers and hands, with Raynaud's as the initial symptom. Difficulty with activities requiring fine motor control (buttoning, writing, opening jars) is common.
• Pain quality: Tightness and stiffness rather than sharp pain; aching in joints restricted by overlying skin contracture; burning pain in digits during Raynaud's episodes (ischemic pain); deep aching from fibrosis-related tension on underlying structures; chest tightness if pulmonary involvement present
• Onset: Raynaud's phenomenon typically appears first, sometimes years before skin changes; skin thickening then progresses from distal to proximal (hands and fingers → forearms → face); limited type progresses slowly over years; diffuse type progresses rapidly, with widespread skin changes within 1 year of Raynaud's onset
• Aggravating factors: Cold exposure (triggers Raynaud's and worsens digital ischemia), emotional stress (vasospasm trigger), lying flat (worsens GERD from esophageal dysmotility), physical exertion (dyspnea if pulmonary involvement)
• Easing factors: Warmth (relieves Raynaud's vasospasm and skin stiffness), gentle movement (prevents contracture progression), elevation of edematous extremities in early disease, calcium channel blockers (prescribed for Raynaud's)
• Red flags: Sudden onset of severe hypertension, headache, visual changes, or decreased urine output → scleroderma renal crisis; emergency referral; do not treat; progressive dyspnea → pulmonary fibrosis or PAH requiring medical evaluation; new onset chest pain or palpitations → cardiac involvement; digital necrosis or non-healing ulcers → critical ischemia requiring medical management

Observation

• Local inspection: Skin changes are the most visible finding — shiny, tight, bound-down skin that progresses from distal to proximal; sclerodactyly (tapered, claw-like fingers with tight shiny skin); telangiectasias on face, lips, palms; calcinosis nodules visible on fingers and pressure points; digital ulcers or pitting scars on fingertips; "stone facies" (mask-like facial expression, restricted mouth opening); linear scleroderma or morphea patches in localized forms
• Posture: Flexion contracture of the fingers (from skin tightening over the MCP and PIP joints); wrist flexion tendency; elbow flexion contracture in advanced diffuse disease; forward head posture from cervical skin tightening; overall impression of stiffness and rigidity in movement initiation
• Gait: May be normal in limited disease; restricted stride length and reduced arm swing in diffuse disease from skin contracture of the trunk and extremities; dyspneic gait (shortness of breath limits pace) if pulmonary involvement is significant

Palpation

• Tone: Muscles underlying fibrotic skin are not primarily hypertonic — the restriction is fascial and dermal, not muscular. However, compensatory muscle tension develops in areas proximal to skin-restricted joints as the body attempts to move through restricted fascial planes. Assess whether restriction is from skin/fascial fibrosis (external envelope limitation) vs. muscular guarding (protective response) — the treatment approach differs significantly.
• Tenderness: Fibrotic skin itself is not typically tender unless overlying calcinosis nodules or digital ulcers; periarticular tenderness from tendon friction (fibrosis of tendon sheaths produces a palpable gritty crepitus on tendon movement — pathognomonic finding); tenderness over Raynaud's-affected digits during or after an episode; calcinosis nodules are tender if inflamed or ulcerated
• Temperature: Raynaud's-affected digits are cold during vasospastic episodes and may remain chronically cool due to microvascular obliteration; compare digit temperature bilaterally and note any color changes (white, blue, mottled); proximal areas are typically normal temperature; warmth over a joint suggests secondary inflammation or infection (especially around digital ulcers)
• Tissue quality: This is the most diagnostically important palpation category for scleroderma. Assess fascial mobility — the progressive loss of fascial glide is the measurable indicator of fibrosis progression. Early/edematous stage: skin feels puffy, swollen, with preserved but reduced mobility. Fibrotic stage: skin is thick, tight, shiny, and cannot be lifted or pinched from the underlying fascia; fascial layers are fused and immobile. Atrophic stage: skin is thin, tightly bound, and fragile — handle with extreme care. Tendon friction rubs: place fingers over tendons during active movement — a gritty, palpable crepitus indicates tendon sheath fibrosis. Calcinosis: hard, nodular deposits palpable subcutaneously, especially in fingertips.

Motion Assessment

• AROM: Restricted proportionally to the extent of skin fibrosis — skin contracture physically limits the joint from reaching its full anatomical range. Hand and finger ROM is most affected: reduced grip strength, incomplete fist closure, limited finger abduction. Mouth opening restricted (microstomia) — ask the patient to open wide and measure interincisal distance. ROM may be relatively preserved in localized forms affecting only patches of skin.
• PROM / end-feel: Firm/leathery end-feel from skin and fascial fibrosis — the end-feel comes from the skin envelope tightening, not from capsular restriction or bony block; this is distinctive and readily distinguishable from the capsular end-feel of adhesive capsulitis or the bony end-feel of OA; PROM may slightly exceed AROM (the external force can stretch the fibrotic tissue slightly further than the patient's own muscle force), but the difference is small because the restriction is structural
• Resisted testing: Typically normal strength in muscles not overlaid by severe fibrosis; weakness may be present in the hands from disuse and skin-limited ROM rather than from myopathy (unless polymyositis overlap exists); if proximal weakness is found, consider polymyositis overlap (scleroderma-myositis overlap syndrome) and check CK levels

Special Test Cluster

If the patient reports numbness, tingling, or pain in the face (trigeminal distribution): Add trigeminal nerve sensory screening. Thickened facial connective tissue can compress trigeminal nerve branches, causing secondary trigeminal neuralgia. Refer for neurological evaluation if new-onset facial sensory changes are found.

Differential Assessment