Scleroderma: Symptoms, Signs, and Early Stage

Scleroderma is a group of autoimmune conditions in which the skin becomes firm and thickened, and sometimes the blood vessels, muscles, bones, and internal organs are affected. Below is how the disease begins, which signs are characteristic, and what a doctor checks if skin thickening or changes in the fingers do not go away.

What scleroderma is and which forms exist

The name is literal — "hard skin." Part of the immune system is overactive, connective tissue cells produce excess collagen, and the tissue thickens and scars. The exact cause is unknown; genes are discussed (the risk is higher with a close relative, but the disease is not passed on directly) as are changes in the immune system.

There are two forms. Localized (morphea) affects the skin and, less often, the muscle and bone beneath it: in plaque morphea, more common in adults, altered oval patches appear, sometimes without hair and with a sheen; in linear morphea there are bands of thickening, more often on the limbs in children, sometimes with persistent problems. Systemic scleroderma (systemic sclerosis) is more serious: the blood vessels and organs are affected. The limited form affects the skin of the hands, forearms, feet, lower legs, and face and over time may reach the lungs and digestive tract; the diffuse form changes the skin all over the body and more often affects the internal organs. It mainly affects women aged 30–50.

Early stage of scleroderma: first signs

The systemic form often starts with Raynaud's phenomenon: in the cold the fingers turn white, go numb, hurt, then turn blue or red. The skin of the hands, feet, and face gradually tightens and thickens. In the diffuse form there is fatigue, weight loss, joint pain and stiffness; in the localized form the first noticeable sign is the patch or band of thickening itself.

Symptoms on the skin, fingers, and face

The skin is the most noticeable guide. The face becomes mask-like: facial expression is sharply reduced and the skin looks taut. The fingers thin out and lose mobility, the nails appear large, and the terminal phalanges thicken; red spots on the skin and firm nodules beneath it occur.

• thickening and tightening of the skin on the hands, feet, and face;
• sclerodactyly — thickening of the skin confined to the fingers;
• digital scars — depressions in the skin of the distal phalanges or loss of the fingertip pads;
• altered oval patches or bands of thickening in the localized form;
• pallor of the fingers in the cold with numbness and pain.

Systemic scleroderma: internal organ involvement

The kidneys, lungs, and heart are most often affected. Most people with systemic scleroderma have reduced lung function; basal pneumofibrosis, a "honeycomb lung" pattern on imaging, shortness of breath, and pulmonary hypertension are possible. Kidney involvement leads to worsening renal failure; on the part of the digestive tract there may be heartburn and difficulty swallowing; the joints respond with contractures due to the growth of fibrous tissue. Pain in the muscles and bones makes the picture resemble rheumatism or rheumatoid arthritis.

How scleroderma is diagnosed

There is no single test; symptoms differ between people and resemble other diseases — which is why the diagnosis is often not made immediately. The doctor asks about the history of symptoms, performs an examination, orders blood tests including a test for antinuclear antibodies (ANA), may take a skin biopsy, and may refer for imaging studies to check the organs. According to the American College of Rheumatology criteria, the diagnosis is definite with one "major" criterion — symmetrical thickening of the skin of the fingers proximal to the metacarpophalangeal and metatarsophalangeal joints — or with two "minor" ones: sclerodactyly, digital scars, basal pneumofibrosis. Scleroderma is distinguished from rheumatoid arthritis and rheumatism by X-ray and immune tests.

When to see a doctor

The first point of contact is a rheumatologist; for skin changes a dermatologist is involved, and for organ involvement, relevant specialists. The doctor assesses the skin, fingers, and the function of internal organs: in scleroderma there may be skin thickening, whitening of the fingers in the cold, heartburn and difficulty swallowing, shortness of breath, and weight loss. The disease is chronic and slowly progressive, so monitoring and regular checks of blood pressure and organs are part of everyday life.

Scleroderma by itself is not a reason to call an ambulance; 103/112 — if the condition is life-threatening.

Ask your rheumatologist which tests you specifically need and how often to check your lungs, heart, and blood pressure. This material is for reference and does not replace a doctor's consultation.

This content is for reference and does not replace a doctor's consultation. Medical disclaimer