Systemic sclerosis skin manifestations

01OverviewDefinition, clinical context and the essential points that orientate the chapter.

Systemic sclerosis is an autoimmune connective-tissue disease characterised by vasculopathy, immune activation and variable fibrosis of skin and internal organs. The skin offers an early diagnostic window: cold-sensitive triphasic or biphasic Raynaud attacks may be followed by persistent puffy fingers, then induration, tethering and loss of mobility. Distal-only thickening defines limited cutaneous systemic sclerosis; extension proximal to elbows or knees or onto the trunk defines diffuse cutaneous disease. These subsets predict risk patterns but do not provide a complete organ map.

Examine texture, mobility, folds and function rather than relying on colour. Early oedema can feel doughy before skin becomes shiny and bound down. Later disease may cause tapered fingers, flexion contractures, reduced mouth opening, beaked nose, radial furrows, pigment loss around preserved follicles and conspicuous telangiectasia. In richly pigmented skin, salt-and-pepper change, hyperpigmentation and textural transition may be particularly visible while erythema is subtle. Ask permission before photographs, include the patient's preferred language for appearance, and record fixed damage separately from active progression.

Every new suspected case needs rheumatology-led multisystem assessment because silent ILD, pulmonary arterial hypertension or renal involvement can coexist with modest skin disease. Management is modular: protect the circulation and ulcers, preserve hand and mouth movement, treat reflux and nutrition, and select immune or antifibrotic treatment according to lung, skin and other organ activity. A normal oxygen saturation, creatinine or antibody panel at one visit does not end surveillance.

Key points

Raynaud phenomenon and puffy fingers often precede fixed sclerodactyly; nailfold giant capillaries, haemorrhage and capillary loss strengthen suspicion of a systemic-sclerosis spectrum disorder.
Limited cutaneous disease remains distal to elbows and knees apart from the face, while diffuse cutaneous disease extends proximally or onto the trunk and carries greater early renal, cardiac and interstitial-lung risk.
Look for fingertip pits and ulcers, telangiectasia, calcinosis, reduced oral aperture, tendon friction rubs, salt-and-pepper pigment change and loss of normal skin folds.
In brown or black skin, early inflammation may appear violaceous, grey or hyperpigmented; palpated oedema, tethering, sheen, reduced hair and sweat and functional restriction can be more reliable than redness.
Document the modified Rodnan skin score serially, but never use skin extent alone to exclude interstitial lung disease, pulmonary hypertension, renal crisis, cardiac disease or gastrointestinal involvement.
Anticentromere antibodies commonly accompany limited disease and later pulmonary arterial hypertension; anti-topoisomerase I supports ILD risk and anti-RNA-polymerase III signals rapid skin progression and renal-crisis vigilance.
Baseline assessment includes blood pressure, urinalysis, renal tests, full blood count, ECG, pulmonary function with DLCO and high-resolution chest CT, followed by structured annual cardiopulmonary screening.
First-line uncomplicated Raynaud care combines warmth, trigger and smoking avoidance with a dihydropyridine calcium-channel blocker; sildenafil or intravenous prostanoid belongs in specialist escalation for refractory or ischaemic disease.
High-dose glucocorticoids increase renal-crisis risk and should be avoided where possible; skin-directed treatment must be coordinated with organ phenotype, rehabilitation and medicine monitoring.

02AetiologyUnderlying causes, associations and risk factors, with why each one matters.

Autoimmune susceptibility

Genetic, epigenetic and environmental influences permit persistent immune activation, while disease-specific autoantibodies identify overlapping but clinically useful risk phenotypes.

Endothelial injury

Early damage to small-vessel endothelium promotes vasospasm, platelet and coagulation activation and defective vascular repair before established skin fibrosis.

Fibroblast activation

Transforming growth-factor and related signalling drives excess collagen and extracellular-matrix deposition in skin, lung and other affected tissues.

Potential exposures

Silica and selected occupational or treatment exposures are associated with scleroderma-like disease, but most patients have no single removable cause.

03PathophysiologyThe causal sequence from the underlying abnormality to symptoms and harm.

1
Vasospasm becomes vasculopathy
Recurrent functional narrowing evolves into intimal proliferation, lumen loss and capillary dropout, explaining both Raynaud attacks and irreversible digital ischaemia.
2
Skin passes through phases
Inflammatory oedema can progress to collagen-rich induration and tethering, then late thinning and contracture despite lower measurable skin thickness.
3
Fibrosis restricts function
Tight skin, tendon involvement and joint contracture reduce hand opening, pinch, mobility and oral aperture and create pressure-prone areas.
4
Organs follow distinct pathways
Interstitial fibrosis, pulmonary arteriopathy, myocardial microvascular injury, renal arteriolar disease and gut neuromuscular dysfunction can evolve independently of visible skin severity.

04Clinical features and red flagsSymptoms, examination findings, patterns of presentation and time-critical warnings.

Raynaud and puffy fingers

Episodic demarcated pallor or cyanosis with cold or stress, followed by persistent symmetrical finger oedema, is a common earliest sequence.

Sclerodactyly

Distal skin becomes smooth, shiny, tight and tethered, with tapered fingertips, reduced creases, impaired pinch and progressive flexion contracture.

Proximal extension

Thickening above elbows or knees or on the trunk establishes diffuse cutaneous distribution and heightens early organ-risk assessment.

Digital vascular damageRed flag

Fingertip pits, painful ulcers, splinter haemorrhage, delayed refill or gangrene demonstrate structural vasculopathy rather than uncomplicated vasospasm.

Nailfold capillary change

Giant loops, microhaemorrhage, capillary dropout and disorganised neoangiogenesis distinguish a scleroderma pattern from primary Raynaud phenomenon.

Face and mouth restriction

Reduced oral aperture, perioral radial furrows, tight facial skin and dry mouth impair dental care, speech and nutrition.

Telangiectasia and calcinosis

Blanching mat telangiectases cluster on face, lips, palms and mouth; firm calcium deposits can inflame, ulcerate or discharge chalky material.

Pigment and adnexal change

Diffuse darkening or perifollicular pigment preservation within pale skin, reduced hair and sweating can accompany fibrosis across all complexions.

Red flags requiring action

New hypertension, falling renal function, haemolysis, persistent digital colour change with severe pain, rapidly progressive skin thickening, exertional breathlessness, syncope, chest pain, dysphagia with aspiration or marked weight loss requires urgent organ-directed assessment.

05InvestigationsWhat to request, why it matters and how to interpret it.

Investigation order

Read from the initial assessment onwards. Tests may run in parallel in urgent care; first-line, preferred, confirmatory, definitive and gold-standard labels appear only when the chapter explicitly states them.

01
Full skin and vascular examinationFirst step
Why
Classify distribution, quantify progression and identify threatened digits or fixed disability.
Interpretation and limitations
Record modified Rodnan skin score at 17 sites alongside photographs, ulcers, oral aperture and hand function; observer variation and oedema limit single-score interpretation.
02
Nailfold capillaroscopy
Why
Separate primary Raynaud phenomenon from structural connective-tissue vasculopathy.
Interpretation and limitations
Giant capillaries, haemorrhage, dropout and abnormal repair form an evolving scleroderma pattern; absence early in disease does not overrule a convincing systemic phenotype.
03
ANA and systemic-sclerosis antibodies
Why
Support diagnosis and refine organ-risk surveillance.
Interpretation and limitations
Anticentromere, anti-topoisomerase I and anti-RNA-polymerase III associations guide vigilance, but negative commercial testing neither excludes disease nor substitutes for capillaries and clinical evolution.
04
Blood pressure, FBC, creatinine and urine
Why
Detect renal crisis, haemolysis and a safe systemic-treatment baseline.
Interpretation and limitations
Compare blood pressure with the person's usual level: a clinically important rise may matter before absolute severe hypertension, while schistocytes, thrombocytopenia, protein or blood support emergency assessment.
05
PFTs with DLCO and high-resolution CT
Why
Find interstitial lung disease at baseline and quantify physiological consequence.
Interpretation and limitations
HRCT is more sensitive than symptoms or auscultation for early ILD; serial FVC and DLCO trends help distinguish progression, although a falling DLCO also raises pulmonary-vascular concern.
06
Echocardiography and PAH screening
Why
Identify pulmonary hypertension and cardiac disease before overt right-heart failure.
Interpretation and limitations
Use annual multimodal screening with symptoms, examination, ECG, natriuretic peptide, DLCO and echocardiography; right-heart catheterisation is the reference standard when pulmonary arterial hypertension is suspected.
07
Gastrointestinal and nutrition assessment
Why
Define reflux, dysmotility, aspiration, malabsorption and weight loss.
Interpretation and limitations
History and weight direct endoscopy, swallow study, pH or manometry, stool or breath testing; alarm dysphagia, bleeding or unexplained loss needs prompt exclusion of another cause.

06Differential diagnosisRealistic alternatives and the features that help distinguish them.

Primary Raynaud phenomenon

Symmetrical vasospasm without ulcers, puffy fingers, systemic symptoms, disease antibodies or abnormal nailfold architecture favours a benign primary disorder.

Eosinophilic fasciitis

Painful symmetrical limb induration, groove sign, eosinophilia and fascial MRI or biopsy with relative sparing of fingers and Raynaud features distinguish it.

Scleredema or diabetic cheiroarthropathy

Posterior neck and upper-back woody change or waxy diabetic hand restriction lacks the characteristic digital vasculopathy and systemic-sclerosis antibody pattern.

Nephrogenic systemic fibrosis

Renal failure with prior gadolinium exposure and symmetrical woody limb plaques suggests this rare mimic rather than primary autoimmune vasculopathy.

Mixed connective-tissue disease

Puffy hands and Raynaud can coexist with myositis, lupus features and high anti-U1-RNP, requiring overlap-focused organ assessment.

07ManagementImmediate care, first-line treatment, alternatives and escalation.

01First diagnostic sequenceConnect early skin change to organ screeningFirst stepRaynaud phenomenon, puffy fingers, sclerodactyly, fingertip injury or scleroderma-pattern capillaries raises systemic sclerosis.

1Map skin extent, ulcers, pits, telangiectasia, calcinosis, oral aperture and hand function and obtain neutral-light photographs with consent.
2Check nailfold capillaries, ANA and phenotype antibodies, blood pressure, FBC, renal function and urine and arrange prompt rheumatology review.
3Obtain baseline ECG, lung physiology with DLCO and HRCT, then assess cardiac, pulmonary-vascular, gastrointestinal and musculoskeletal involvement even if symptoms are mild.

02First-line Raynaud careReduce vasospasm before tissue is lostFirst lineFrequent cold- or stress-induced attacks occur without critical ischaemia.

1Keep core and hands warm, use layered gloves, stop smoking and avoid vibration, vasoconstricting medicines and abrupt temperature change while managing wounds gently.
2Offer a modified-release dihydropyridine calcium-channel blocker such as nifedipine, titrating against attack burden, blood pressure, headache and oedema.
3Review promptly if attacks become persistent, asymmetric or painful or if a pit or ulcer appears; refractory disease needs specialist sildenafil or prostanoid consideration.

03Digital ulcer escalationTreat ischaemia, pain and infection togetherEscalationA fingertip ulcer, prolonged colour change or escalating rest pain suggests structural vascular compromise.

1Assess perfusion, depth, infection, calcinosis and macrovascular contribution, provide analgesia and atraumatic dressings and obtain cultures only when infection is clinically suspected.
2EscalationEscalate vasodilation through the specialist pathway, using phosphodiesterase-5 inhibition or intravenous iloprost for severe disease and considering bosentan to reduce recurrent ulcers in selected patients.
3Admit threatened digits for urgent vascular and rheumatology coordination; drain infection or debride only after perfusion and tissue viability have been assessed.

04Skin and function managementPreserve movement while systemic disease is treatedTightening skin, hand contracture, itch or reduced mouth opening interferes with daily activity.

1Begin occupational- and physiotherapist-led hand stretching, splinting where appropriate, paraffin or warming strategies and mouth-opening and dental-care exercises early.
2Use emollients and targeted antipruritic care and discuss methotrexate or mycophenolate with rheumatology for active progressive skin disease according to lung and reproductive phenotype.
3Track function and skin trajectory rather than chasing established atrophy; investigate abrupt swelling, inflammatory arthritis, tendon rub or neuropathic symptoms separately.

05Renal-crisis responseAct on a relative pressure riseNew hypertension, headache, visual symptoms, oliguria, creatinine rise or microangiopathic haemolysis develops, especially in early diffuse disease.

1Arrange emergency admission and repeat blood pressure, renal function, urine, blood film, platelets, LDH and haptoglobin without delaying treatment for every result.
2Start an ACE inhibitor promptly under specialist supervision and titrate while monitoring pressure, potassium and renal function; dialysis may be required but renal recovery can occur later.
3Stop avoidable high-dose glucocorticoid exposure, search for organ complications and continue coordinated renal and rheumatology follow-up after the acute event.

Key medicines and prescribing safety2 treatments · regimens, roles and cautions

A first-line dihydropyridine calcium-channel blocker for frequent systemic-sclerosis Raynaud attacks without threatened tissue.

Nifedipine modified release

Start 30 mg by mouth once daily and titrate to 60 mg once daily if needed and tolerated, using the selected product's licensed administration instructions.

Check sitting and standing blood pressure and review headache, flushing, ankle oedema, dizziness and interactions; do not allow gradual outpatient titration to delay admission for critical ischaemia.

Reduces severe refractory Raynaud symptoms and supports digital-ulcer healing when first-line vasodilator care is insufficient.

Sildenafil specialist escalation

A commonly used specialist regimen is 20 mg by mouth three times daily, adjusted to response, blood pressure, renal or hepatic function and interacting medicines.

Never combine with nitrates or riociguat. Review hypotension, headache, flushing, visual symptoms and priapism and confirm whether pulmonary-hypertension prescribing follows a separate specialist protocol.

08ComplicationsImportant consequences, why they occur and why they matter clinically.

Digital tissue loss

Fixed vascular narrowing causes recurrent ulcers, infection, osteomyelitis, gangrene, amputation and substantial pain and work disability.

Interstitial lung disease

Inflammatory and fibrotic lung change reduces gas transfer and lung volume and can progress before resting breathlessness or hypoxia appears.

Pulmonary arterial hypertension

Progressive pulmonary arteriopathy produces exertional dyspnoea, syncope, right-heart failure and excess mortality, particularly in longstanding limited disease.

Scleroderma renal crisis

Abrupt renal arteriolar injury causes rising pressure, acute kidney injury and sometimes microangiopathic haemolysis, demanding immediate ACE inhibition.

Gastrointestinal and functional harm

Reflux, aspiration, dysmotility, malabsorption, faecal incontinence, microstomia and hand contracture impair nutrition, sleep, self-care, dentistry and participation.

09Monitoring and follow-upTreatment response, safety checks and longer-term review.

Ask about Raynaud frequency, rest pain, new pits and ulcers at every review and inspect every fingertip rather than relying on a hand-symptom score.
Measure blood pressure regularly at home when feasible in early diffuse or RNA-polymerase-III-associated disease and obtain urgent renal tests for a meaningful rise or suggestive symptoms.
Repeat modified Rodnan scoring, photographs, oral aperture and hand-function measures with consistent technique, separating active thickening from irreversible contracture.
Follow FVC, DLCO and symptoms through an ILD schedule and maintain at least annual structured pulmonary-hypertension screening even when baseline tests are reassuring.
Review reflux, swallowing, bowel habit, continence, weight, nutrition, dental health, sexual health, mood, fatigue and work impact rather than restricting assessment to skin.
Apply medicine-specific pressure, renal, blood, liver, infection, vaccination and reproductive safeguards and minimise glucocorticoid exposure because of renal-crisis association.

10Special situationsVariants, exceptions and circumstances that change the usual approach.

Puffy precedes tight

The diagnostically useful early hand can be swollen rather than sclerotic, so waiting for textbook tapering may lose the opportunity for early organ screening.

Subset is not destiny

Limited disease can cause severe pulmonary arterial hypertension and diffuse disease can spare expected organs; individual screening must continue beyond the skin label.

Pressure change is personal

Scleroderma renal crisis may begin with a striking rise from a patient's low baseline before the reading reaches an ordinary severe-hypertension threshold.

Pigment records damage

Salt-and-pepper change reflects perifollicular pigment preservation within affected skin and may remain after inflammatory activity has quietened.

Ulcer and calcinosis can coexist

A painful fingertip wound may combine poor perfusion, pressure, calcium extrusion and secondary infection, each requiring a different management component.

Normal saturation is insufficient

Resting oxygenation can remain normal in early ILD or pulmonary vascular disease, making DLCO, imaging and exercise-related symptoms important surveillance signals.

11Common pitfallsFrequent interpretation and management errors.

01
Labelling all Raynaud phenomenon as primary without examining puffy fingers, fingertip pits and nailfold capillaries.
02
Describing only redness and missing violaceous, grey, brown, pigmentary and textural manifestations in darker skin.
03
Using limited distal skin involvement to reassure against pulmonary hypertension or interstitial lung disease.
04
Waiting for absolute malignant hypertension before recognising a major rise from a low personal baseline as renal crisis.
05
Starting high-dose glucocorticoid casually in early diffuse disease despite its association with scleroderma renal crisis.
06
Debriding an ischaemic ulcer before assessing perfusion or giving antibiotics to every clean digital wound without evidence of infection.