Clinical features of systemic sclerosis

Systemic sclerosis is characterised by scleroderma¹, inflammation and fibrosis of multiple organs and tissues. Two main disease variants exist, defined by the extent of skin involvement:

limited systemic sclerosis
diffuse systemic sclerosis.

Clinical features of systemic sclerosis by organ system or body region are listed in Clinical features of systemic sclerosis. For images of some of the characteristic features, see Diffuse cutaneous systemic sclerosis and Limited cutaneous systemic sclerosis.

Raynaud phenomenon and gastro-oesophageal reflux are often the first symptoms of systemic sclerosis.Denton, 2017

Table 1. Clinical features of systemic sclerosis[NB1]
Organ system or body region affected by systemic sclerosis	Clinical features
Skin and subcutaneous tissue
scleroedema (early stage)	inflammation, oedema, pruritis, thickening of the skin
scleroderma [NB2] (later stages)	local or general skin thickening and fibrosis linear scleroderma atrophic skin with loss of sebaceous gland and hair follicles
facial change	change in cosmetic appearance (eg tight, shiny, thickened skin) reduced oral aperture and trismus see images of facial changes in diffuse disease and limited disease
digital fibrosis	sclerodactyly digital contractures
calcinosis and ulcers (calcinosis cutis)	deposition of insoluble calcium in the skin and subcutaneous tissues painful calcinotic deposits that may extrude and ulcerate; see calcinosis cutis
Oral and dental
oral mucosa	sicca symptoms (dry mouth), oral ulcers
dentition	difficult dental hygiene gum and dental disease, secondary to small oral aperture, trismus and sicca
Ophthalmic
ocular surface	keratoconjunctivitis sicca (dry eyes)
Musculoskeletal
joints and muscles	arthralgias, arthritis, tenosynovitis, myalgias, myositis (especially overlap myositis)
Gastrointestinal tract
oesophagus	oesophageal dysmotility, gastro-oesophageal reflux, dysphagia, oesophageal stricture, risk of pulmonary aspiration
stomach	gastric dysmotility and delayed emptying
small intestine	intestinal dysmotility, diarrhoea, malabsorption, bacterial overgrowth
large intestine	constipation, faecal impaction, incontinence, rectal prolapse
Respiratory
upper airways	hoarseness and cough associated with sicca symptoms (dry throat)
lung	interstitial lung disease and pulmonary fibrosis pulmonary aspiration, aspiration pneumonitis
pulmonary vasculature	fibrosis of pulmonary vascular bed resulting in pulmonary arterial hypertension
Genitourinary tract
kidney	scleroderma renal crisis—accelerated hypertension and acute kidney failure in systemic sclerosis
vagina	dryness
Cardiovascular
vasculopathies	telangiectasiae, abnormal nailfold capillaries Raynaud phenomenon and digital ischaemia hypertension
heart	heart failure, especially cor pulmonale secondary to pulmonary hypertension fibrosis of myocardial, pericardial and conducting tissue
Nonspecific features and functional effects
nonspecific features	fatigue weight loss, malnutrition increased risk of common cancers
functional impairment of hand	limited ability to perform occupational tasks and activities of daily living
functional impairment of feet	pain, abnormal gait, pressure areas, ulcers
Note: NB1: This list is not exhaustive. NB2: Scleroderma is a term for excessive collagen deposition leading to fibrosis or thickening of the skin.

Figure 1. Diffuse cutaneous systemic sclerosis

Figure 2. Limited cutaneous systemic sclerosis

People who have newly diagnosed systemic sclerosis and positive RNA polymerase III autoantibodies have an increased risk of developing common cancersWeeding, 2020 and scleroderma renal crisis. Malignancy may occur approximately twice as frequently in this subgroup of people compared with the general population and commonly arises around the time of diagnosis. Clinical vigilance for malignancy (eg breast, lung) is important in this subgroup.

¹ Scleroderma is a term for excessive collagen deposition leading to fibrosis or thickening of the skin.Return