Related articles: Scleroderma
Definition
Scleroderma is a chronic inflammatory disease of connective tissue. It is characterized by an abnormal thickening of the skin, involving other organs (especially the lungs, heart and digestive system).
The pathophysiological mechanisms underlying scleroderma include blood vessel changes (vascular damage) and fibroblast overactivation, with hyperproduction and deposition of collagen in the tissues (diffuse fibrosis). However, the exact causes are not yet known. Probably, immunological, genetic and environmental factors are involved, such as exposure to toxic substances (organic solvents, silica, vinyl chloride, bleomycin, etc.).
Scleroderma is more common in women and generally affects subjects between the ages of 20 and 50; it is rare in children.
Systemic sclerosis varies in severity and duration. Indeed, it exists as
- limited cutaneous form or CREST syndrome (acronym for Calcinosis, Raynaud's phenomenon, alterations of esophageal motility, Sclerodactyly and Telangiectasias). It is characterized by gradual onset, with involvement of the skin and slow progression before the appearance of a visceral pathology;
- diffuse form : rapidly progressive and often fatal, with generalized thickening of the skin and early involvement of internal organs. Scleroderma may overlap with other autoimmune rheumatic diseases (eg mixed connectivity).
Most common symptoms and signs *
- Alopecia
- Alve alterations
- Anorexia
- Arrhythmia
- Asthenia
- Dry mouth
- Swollen arms
- Calcinosis
- Cardiomegaly
- Decreased sweating
- Skin discoloration
- Dysphagia
- Dyspnoea
- Chest pain
- Spleen pain
- Articolar pains
- Muscle pains
- Edema
- Eosinophilia
- Tingling in the hands
- Hypertension
- hypomimia
- macrocytosis
- Dry skin
- Weight loss
- pneumothorax
- Rheumatism
- Joint stiffness
- Acid regurgitation
- Sclerodactyly
- Eye dryness
- Raynaud's syndrome
- Telangiectasia
- Cough
- Skin Ulcers
Further indications
Common symptoms of scleroderma include: hardening and thickening of the skin, Raynaud's phenomenon, widespread joint pain, dysphagia, heartburn and contracture of the fingers.
The disease often begins at the level of the hands, especially of the fingers (sclerodactyly), to then extend to other areas of the body. The skin becomes tight and shiny, hypopigmented or hyperpigmented. In addition, it shows hair loss on the affected areas, adherence to underlying tissues and gradual disappearance of wrinkles. Ulcerations of the knuckles and distal extremities of the fingers (fingertips) are frequent. Furthermore, subcutaneous calcifications can generally develop above the joints or bony prominences. On the fingers, on the chest, on the face, on the lips and on the tongue, telangiectasias appear (small vessels that become visible on the skin), while the nails are affected by capillary anomalies. As for the joints, polyarthralgia, progressive limitation in movements and contractures of the fingers, wrists and elbows are frequent.
Occasionally, the first manifestations may consist of respiratory symptoms (eg dyspnea) or gastrointestinal disorders (eg acid reflux, difficulty swallowing food, slowed intestinal motility with digestive difficulties, malabsorption and formation of diverticula)
The involvement of lungs, heart and kidneys is responsible for most deaths. Pulmonary fibrosis can compromise gas exchange and evolve towards respiratory failure. Both pulmonary hypertension and heart failure can develop. Cardiac arrhythmias and pericarditis can also be seen. The disease can also determine renal involvement causing mild chronic renal failure or a severe acute kidney crisis.
The diagnosis is clinical, but the finding of serum autoantibodies and other laboratory tests facilitates confirmation. Treatment is aimed at controlling symptoms and complications of the disease.
