Scleroderma and Morphea

Overview & Types - Skin Tight Saga

Scleroderma ("hard skin"): Diseases causing skin/connective tissue hardening. Morphea: Localized scleroderma; affects skin, can involve deeper tissues.

• Systemic Sclerosis (SSc):
  • Limited (lcSSc): Skin thickening distal to elbows/knees, face/neck. 📌 CREST.
  • Diffuse (dcSSc): Widespread skin thickening (proximal, trunk); early organ risk.
• Morphea (Localized):
  • Types: Plaque, Linear (en coup de sabre), Generalized, Pansclerotic.

⭐ CREST syndrome (Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, Telangiectasias) is a key presentation of limited SSc.

Pathophysiology - Fibrosis Frenzy

• Vascular Injury: Endothelial dysfunction triggers release of vasoactive mediators like Endothelin-1 (ET-1).
• Immune Activation: T-cells and B-cells orchestrate inflammation.
  • Key cytokines: TGF-β, IL-6.
  • Autoantibodies: ANA, Anti-Scl-70 (topoisomerase I), Anti-centromere (ACA), Anti-RNA polymerase III.
• Fibroblast Dysregulation: Leads to excessive collagen and ECM deposition, causing fibrosis.

⭐ Anti-Scl-70 (anti-topoisomerase I) antibodies are strongly associated with diffuse systemic sclerosis and increased risk of interstitial lung disease.

Morphea (Localized Scleroderma) - Patchy Problems

• Localized skin fibrosis; distinct from systemic sclerosis.
• Types:
  • Circumscribed (plaque): Common; oval, indurated plaques.
  • Linear: Bands on limbs, trunk, face/scalp ('en coup de sabre', Parry-Romberg syndrome).
  • Generalized: ≥4 large plaques, >2 body sites.
  • Pansclerotic: Involves dermis, fat, fascia, muscle, bone.
  • Mixed.
• Clinical: Erythema → induration, waxy texture, pigment changes, atrophy.
• Extracutaneous (rare): Arthralgia (especially with linear type), malaise.

⭐ 'En coup de sabre,' linear morphea of frontoparietal scalp/forehead, may link to CNS issues.

Systemic Sclerosis (SSc) - Systemic Siege

Core: Chronic autoimmune; fibrosis (skin, organs), vasculopathy.

Flowchart: SSc Subtype Differentiation

Table: Antibody Associations & Key Features

• Common: Raynaud's (often initial), digital ulcers.
• GI: Esophageal dysmotility (most common), GAVE.
• Cardiac: Fibrosis, pericarditis (esp. dcSSc).

⭐ Scleroderma renal crisis (SRC): medical emergency (malignant HTN, AKI). More in dcSSc, anti-RNA Pol III+, high-dose steroid use.

Diagnosis & Management - Tackling Tightness

Diagnosis:

• ACR/EULAR 2013 criteria for SSc (score > 9).
• Skin Biopsy: ↑Collagen, perivascular inflammation.
• Autoantibodies: ANA (high titre); SSc-specific (Anti-Scl-70, Anti-centromere).
• Nailfold Capillaroscopy: Megacapillaries, avascular areas.

⭐ Nailfold capillaroscopy is a crucial non-invasive tool for early SSc diagnosis, distinguishing primary Raynaud's from secondary, and has prognostic value.

Management: Organ-based therapy; no cure.

• Morphea: Topical/intralesional steroids, phototherapy, MTX (severe).
• SSc (Systemic Sclerosis):
  • ILD: Immunosuppressants (MMF, CYC; consider Nintedanib/Tocilizumab).
  • Raynaud's/PAH: Vasodilators (CCBs, PDE5i).
  • Renal Crisis: ACE inhibitors (STAT).
  • GERD: PPIs.
• Physiotherapy essential.

High‑Yield Points - ⚡ Biggest Takeaways

• Scleroderma (Systemic Sclerosis): Multi-system disorder with skin fibrosis & internal organ (lungs, kidney) involvement.
• Morphea: Localized scleroderma; affects skin/subcutaneous tissue only, no systemic SSc features.
• CREST syndrome (lcSSc): Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, Telangiectasias; associated with Anti-centromere antibodies.
• Diffuse SSc (dcSSc): Widespread skin thickening, rapid onset, early organ damage; linked to Anti-Scl-70 (topoisomerase I) antibodies.
• Anti-Scl-70 antibodies in dcSSc predict an increased risk of pulmonary fibrosis.
• Linear morphea can cause joint contractures and facial/scalp lesions ("en coup de sabre").