All forms of scleroderma have the main symptom of cutaneous sclerosis in common. Other symptoms and complaints that follow may indicate chronic cutaneous circumscritic scleroderma:
Chronic cutaneous circumscritic scleroderma: confined to the skin and adjacent tissues such as subcutaneous fat, muscle, and bone; most common form of sclerodermaThe following subtypes are distinguished:
- Plaque type (morphaea) – localization: trunk, usually multiple foci.
- Sharply demarcated, round-oval foci.
- Up to 15 cm in size
- Three-phase development: 1. erythema (skin redness), 2. sclerosis (hardening), 3. atrophy (decrease)/pigmentation.
- The single focus has a bluish-red border (“lilac ring” = sign of local disease activity).
- The sclerosis is plate-like and ivory in color.
- In the final stage, the single focus is brown pigmented and shrunken (= extinguished disease activity).
- Linear type – affected are the extremities.
- The focus is band or strip-shaped as well as sclerotic-atrophic.
- The risk of joint contractures (stiffening of joints) is increased.
- Soft tissue and muscle atrophy and defect condition are also possible.
- Possibly “saber cut type” or hemiatrophia faciei (atrophy of one half of the face (soft tissue and bone)).
- Special forms:
- Superficial special forms – erythematous form (erythema, atrophy); guttate form (numerous small individual foci).
- Generalized form – extensive skin involvement.
- Deep special forms – subcutaneous scleroderma (nodular-keloid (proliferating) foci); eosinophilic fasciitis (Shulman syndrome) (affects the extremity fascia (fascia = soft tissue components of connective tissue) and subcutis (subcutis), not affecting the hands and feet; acute onset, chronic course).
Note
- No Raynaud’s syndrome!
- Single foci are sharply demarcated and confined to the skin (localized scleroderma).
Characteristics of the two main forms of systemic scleroderma (SSc).
| Limited systemic scleroderma (lSSc). | Diffuse systemic scleroderma (dSSc) |
| Raynaud’s syndrome, long-term | Raynaud’s syndrome, short-term |
| Face, hands, extremities | Trunk |
| Pulmonary arterial hypertension (PAH) | Pulmonary fibrosis, early |
| CREST syndrome: combination of calcinosis cutis (pathologic (abnormal) deposition of calcium salts), Raynaud’s syndrome (vascular disease caused by vasospasm (vascular spasm)), esophageal dysmotility (dysfunction of the esophagus), sclerodactyly (scleroderma of the fingers), telangiectasis (usually acquired dilation of small, superficial skin vessels) | Involvement of internal organs |
| Anti-centromere (CENP-B)-Ak (correlate of ANA with centromeric pattern in indirect immunofluorescence). | Anti-Scl-70 antibody (anti-Scl70-AK (= anti-topoisomerase-I-AK). |
Other following symptoms and complaints may indicate systemic scleroderma (SSc):
Skin symptoms
- Early symptom
- Raynaud’s syndrome (vasculopathy/vascular disease caused by vasospasm (spasm of blood vessels)) – mainly hands, but other vascular regions are also affected; occurs in 90% of cases, showing the typical tricolore phenomenon:
- Paleness (white), due tofunctional vasospasm (spasmodic constriction of a blood vessel) and the blood emptiness.
- Cyanosis (blue), due toincreased oxygen depletion due to capillary and venous paralysis (= ischemia/deficient oxygen supply).
- Rubor (red), painful due torelease of spasm with reactive hyperemia (excessive blood supply).
- Raynaud’s syndrome (vasculopathy/vascular disease caused by vasospasm (spasm of blood vessels)) – mainly hands, but other vascular regions are also affected; occurs in 90% of cases, showing the typical tricolore phenomenon:
- Skin sclerosis/skin fibrosis
- Face
- Atrophy (decrease) of the adipose tissue
- Mask face (rigid facial expression)
- Microstomy/reduced mouth opening (the mouth can no longer be opened wide).
- Problems with eyelid closure due to reduction of the palpebral fissures.
- Taut facial skin
- “Tobacco pouch mouth” (folds arranged radially around the mouth).
- Trunk, extremities
- Non-sliding skin with restriction of movement.
- Hands (are the first area affected by the disease).
- “Madonna fingers” (the fingers are very narrowed).
- Edematous (storage of fluid in the tissue) finger swelling (“puffy fingers”)
- “Rat bite necrosis” (acral (belonging to the extremities ends) ulcerations (ulcers)).
- Deformations of the hands: so-called “claw hand” (fixation of the fingers in flexion position).
- Shortening and tapering of the finger end links
- Nails
- Dermatomyositis (muscle inflammation with skin involvement) (frequency of nail involvement: 80%):
- Nail symptoms (nail plate deformities/growth disturbances):
- Trachyonychia (“rough nails“).
- Paronychia (nail bed inflammation)
- Pterygium inversum (abnormality in which the distal nail bed of the nail plate adheres to the ventral surface).
- Splinter hemorrhages
- Face
Skin-mucous membrane symptoms
- Calcinosis (pathological (abnormal) deposition of calcium salts), subcutaneous (under the skin).
- Poikiloderma (“variegated skin”).
- Atrophy
- Pigment shifts
- Teleangiectasias (vascular veins)
- Growth disorders/atrophy
- Alopecia (hair loss)
- Nail dystrophy (growth disorders of the nails).
- Sebostasis (inhibition of sebum formation).
- Mucosa
- Whitish horny foci of oral mucosa (infestation of genital mucosa is also possible).
Extracutaneous manifestations (symptoms that do not affect the skin).
- Esophagus (food pipe)
- Dysphagia (difficulty swallowing).
- Motility disorders (caused by wall rigidity).
- Reflux esophagitis (esophagitis due to reflux (backflow) of gastric acid)/heartburn (Barrett’s metaplasia as a secondary complication),
- Lung
- Alveolitis (inflammation of the air sacs)
- Exertional dyspnea (shortness of breath under exertion).
- Interstitial lung disease (“ILD”) – group of lung diseases affecting the epithelium of the alveoli, the endothelium of the pulmonary capillaries, the basement membrane, and the perivascular and perilymphatic tissues of the lung; clinical signs: Shortness of breath and exercise-induced insufficiency (approximately 60% of patients with SSc).
- Pulmonary fibrosis (connective tissue remodeling of the lung leading to functional limitation limited lung function).
- Pneumonia (pneumonia)
- Pulmonary arterial hypertension (pressure increase in the pulmonary arterial system, PAH).
- Ventilatory disorder
- Heart
- Arrhythmias (cardiac arrhythmias)
- Heart failure (cardiac insufficiency/heart failure)
- Hypertension (high blood pressure)
- Myocardial, pericardial fibrosis (“armored heart”)
- Kidney
- Vascular sclerosis
- Nephrosclerosis (synonym: hypertensive nephropathy) – noninflammatory nephropathy (kidney disease) resulting from arterial hypertension (high blood pressure), which is associated with proteinuria (increased excretion of protein in the urine) and can lead to renal insufficiency (renal function impairment)
- Renal insufficiency (renal impairment).
- Proteinuria (increased excretion of protein in urine: > 300 mg/24 h).
- Renal crisis: accelerated increase in hypertension (high blood pressure) with values > 150/85 mmHg (at least 2 measurements over 24 h or diastolic blood pressure > 120 mm Hg) + decrease in estimated glomerular filtration rate (GFR; filtering capacity of the kidney) by > 10% or decrease in measured GFR < 90 ml/min (approximately 5% of SSc patients).
- Gastrointestinal symptoms (if disease affects the gastrointestinal tract) [up to 90% of patients].
- Approximately 40% of patients with SSc suffer from bacterial overgrowth in the small intestine.
- Rectal incontinence (fecal incontinence).
- Arthralgias (joint pain) and myalgias (muscle pain) – due to the tightened skin (about 20-30% of patients).
- Arthritides, partly as “overlap” to rheumatoid arthritis.
Three forms of affection types are distinguished depending on the onset and progression of skin sclerosis / skin fibrosis:
- Acral type (I) – limited-cutaneous systemic scleroderma.
- Acral progressive type (II) – limited-cutaneous systemic scleroderma.
- Central type (III) – diffuse cutaneous scleroderma.
- Begins on the thorax (chest) and face.
- Rapid sclerosis (hardening) of skin and internal organs.
