Clinical Features of Systemic Sclerosis & a Real-World Case
From Raynaud’s phenomenon to multi-organ disease — recognizing the phenotype at the bedside.
3.1 Clinical Case Study — Anchor Vignette
Case Presentation
A 42-year-old woman presents with a 6-month history of color changes in her fingers on cold exposure — white, then blue, then red — accompanied by pain. Over the past 2 months she has noticed her fingers feel “tight and swollen” in the morning, and her wedding ring no longer fits. She reports new heartburn and occasional difficulty swallowing solid food. On examination, her fingers show diffuse non-pitting swelling (“puffy fingers”), and the skin over her fingers and forearms feels thickened and bound down. Nailfold examination under magnification shows enlarged, dilated capillary loops with a few dropout areas. Laboratory testing reveals a positive ANA with a speckled pattern, and anti-topoisomerase I (Scl-70) antibody is positive.
Teaching points: This vignette illustrates the classic early “edematous phase” of diffuse cutaneous SSc — puffy fingers preceding sclerodactyly, Raynaud’s phenomenon, early esophageal dysmotility, and an anti-Scl-70 antibody profile that predicts a higher risk of ILD. This patient meets 2013 ACR/EULAR classification criteria (see Module 7) and warrants urgent baseline organ screening (Module 7) given her diffuse, anti-Scl-70-positive, early disease phenotype.
3.2 Initial Clinical Presentation: dcSSc vs. lcSSc
The interval between onset of Raynaud’s phenomenon and other disease manifestations differs sharply by subset:
- Diffuse cutaneous SSc (dcSSc): Interval between Raynaud’s onset and other manifestations is typically brief (weeks to months). Soft-tissue swelling, puffy fingers, and pruritus mark the early inflammatory “edematous” phase. Over the ensuing weeks, skin induration evolves into the “fibrotic” phase with hair loss, reduced sweating, and progressive flexion contractures of fingers, wrists, elbows, and ankles. Internal organ damage occurs early and often rapidly during the first 4 years of disease — this is the critical window for aggressive screening and treatment.
- Limited cutaneous SSc (lcSSc): More indolent course. Raynaud’s phenomenon may antedate other manifestations by years. GERD, telangiectasia, digital ulcers, and soft tissue calcifications accrue slowly. Scleroderma renal crisis and significant ILD are rare; PAH and biliary cirrhosis can develop even many years after disease onset.
3.3 Raynaud’s Phenomenon
Raynaud’s phenomenon (RP) is the most frequent extracutaneous manifestation of SSc, characterized by episodic vasoconstriction of the fingers and toes (sometimes ears/nose), classically triggered by cold or emotional stress. The classic tri-phasic color change is pallor → cyanosis → erythema (reflecting vasoconstriction, ischemia, then reperfusion hyperemia). Up to 5% of the general population has primary (idiopathic) Raynaud’s; features favoring secondary Raynaud’s (i.e., due to SSc or another CTD) include: older age of onset, more severe/frequent/prolonged attacks, digital tissue necrosis or ulceration, and a positive ANA. [Harrison’s, Ch. 360]
3.4 Skin Features
Bilateral symmetric skin thickening is the hallmark distinguishing SSc from other connective tissue diseases. It begins distally in the fingers and progresses proximally. Recognize:
- Sclerodactyly — skin induration with fixed flexion contractures of the fingers.
- “Salt-and-pepper” dyspigmentation — perifollicular pigment sparing amid hypopigmentation, most prominent on the scalp, back, and chest.
- “Mauskopf” (mouse-head) facies — taut, shiny skin, loss of wrinkles, expressionless face, reduced mobility of eyelids/cheeks/mouth.
- Microstomia — reduced oral aperture interfering with eating and oral hygiene; a pinched, beak-like nose.
- Telangiectasia — dilated capillaries 2–20 mm on face, hands, lips, oral mucosa; correlates with severity of microvascular disease and PAH.
- Digital pits/ulcers and acro-osteolysis — ischemic ulceration at extensor surfaces of PIP joints and bony prominences, healing with characteristic “pits”; resorption of terminal phalanges.
- Calcinosis cutis — calcium hydroxyapatite deposits in up to 40% of long-standing, anticentromere-positive lcSSc, commonly at finger pads, palms, extensor forearms, olecranon/prepatellar bursae.
3.5 Frequency of Organ Involvement by Subset
| Feature | Limited cutaneous SSc (%) | Diffuse cutaneous SSc (%) |
|---|---|---|
| Skin involvement | 90* | 100 |
| Raynaud’s phenomenon | 99 | 98 |
| Ischemic digital ulcers | 10 | 25 |
| Esophageal involvement | 90 | 80 |
| Interstitial lung disease | 35 | 65 |
| Pulmonary arterial hypertension | 15 | 15 |
| Myopathy | 11 | 23 |
| Clinical cardiac involvement | 9 | 12 |
| Scleroderma renal crisis | 2 | 15 |
| Calcinosis cutis | 40 | 35 |
*Approximately 10% of patients have SSc sine scleroderma (no overt skin sclerosis). Adapted from Harrison’s Table 360-5.
3.6 Beyond Skin — Multi-Organ Involvement
SSc can affect virtually every organ system. Key manifestations, organized by system, that will be revisited in later modules:
- Oral/Upper GI: xerostomia, reduced oral aperture, GERD, gastric antral vascular ectasia (GAVE, “watermelon stomach”), Barrett’s esophagus, gastroparesis.
- Lower GI: hypomotility, bacterial overgrowth, pseudo-obstruction, malabsorption, anorectal incontinence.
- Pulmonary: interstitial lung disease (most common cause of death), pulmonary arterial hypertension.
- Cardiac: pericarditis, diastolic dysfunction, cardiomyopathy, arrhythmia (primary myocardial fibrosis).
- Renal: scleroderma renal crisis — a medical emergency (Module 9).
- Musculoskeletal: joint contractures, tendon friction rubs, myositis.
- Vascular: Raynaud’s phenomenon, digital ischemic ulcers, critical digital ischemia.