Scleroderma: what kind of disease it is, types, and how it is diagnosed

Scleroderma is an umbrella term for a group of autoimmune conditions in which the skin becomes tight and hard in places, and sometimes the muscles, bones, blood vessels, and internal organs are affected. The name literally means "hard skin": the word is assembled from Greek roots. Below — about the mechanism, the forms of the disease, and how they are distinguished.

Scleroderma: what it is and why it is called autoimmune

Normally the immune system responds to what is foreign and calms down once the threat is gone. In scleroderma, part of the immune system seems unable to switch off the alarm: connective tissue cells receive a signal to produce too much collagen, the tissue thickens and scars — this is fibrosis.

Imagine that connective tissue is the framework and mortar that hold the shape of organs. A crew receives a false alarm about an accident and pours concrete over what should remain elastic. The wall grows stronger but does not stretch, and the pipe under the concrete narrows — which is why both blood vessels and organs suffer.

Why the crew deviates from the blueprint is unknown. Genes are discussed: with a close relative affected, the risk is higher, although the disease is not passed from parent to child. External triggers are also named — chemicals, viruses, medications — but in most people no triggering factor is found.

Types of scleroderma: localized and systemic

There are two main forms. Localized scleroderma, or morphea, occurs in children and adults: hard patches appear mainly on the skin, but can extend into the muscle and bone beneath it. The plaque form is more common in adults — oval discolored spots; after several years they may improve. The linear form produces bands of thickened skin, more often on the arms and legs in children, and sometimes leaves persistent problems.

Systemic scleroderma, also known as progressive systemic sclerosis, affects internal organs as well. It occurs mainly in women, usually at ages 30–50, and rarely in children. Within it there are limited and diffuse variants.

Limited and diffuse forms of systemic scleroderma

The limited form usually stays within the skin of the hands, forearms, feet, lower legs, and face, although over time it reaches the lungs and digestive system. It often begins with Raynaud's syndrome — a spasm of blood vessels that makes the fingers turn white in the cold. Then thickening of the skin on the hands, feet, and face appears, along with red spots, nodules under the skin, heartburn, and difficulty swallowing. It progresses gradually and is usually milder than the diffuse form.

The diffuse form changes the skin throughout the body and more often involves the organs, adding weight loss, fatigue, pain, and joint stiffness.

What the disease affects: skin, blood vessels, internal organs

• Skin: tight patches, thickening on the fingers, mask-like face, thin, poorly mobile fingers.
• Blood vessels: Raynaud's syndrome — the fingers turn white, blue, or red, become numb and painful in the cold.
• Joints: inflammation, rapid restriction of mobility, contractures.
• Internal organs: lungs, heart, kidneys, esophagus — shortness of breath, pneumofibrosis, increased pressure.

How scleroderma is diagnosed

There is no single test: symptoms differ from person to person and resemble other diseases, so recognizing scleroderma is not easy. The doctor asks about complaints, examines the skin and hands, and may order blood tests, including a test for antinuclear antibodies (ANA), a skin biopsy, and imaging to check the organs.

There are also the American College of Rheumatology criteria. The major criterion is proximal scleroderma: symmetrical thickening of the skin on the fingers and above the metacarpophalangeal and metatarsophalangeal joints. The minor criteria are sclerodactyly, digital pitting scars, and basal pneumofibrosis; the diagnosis is definite with one major or two minor criteria.

Risks and when to see a doctor

The disease is chronic and slowly progressive: the cause cannot be removed, and the goal is to influence symptoms and complications. Risks include lung involvement with shortness of breath and pulmonary hypertension, and heart and kidney problems. In the systemic form, it can be harder to become pregnant, and the risk of miscarriage and preterm birth is slightly higher.

It is usually managed by a rheumatologist, with a dermatologist and other specialists involved if organs are affected. The doctor regularly checks the skin, blood vessels, and internal organs.

Scleroderma by itself is not a reason to call an ambulance; 103/112 — for life-threatening conditions, for example severe sudden difficulty breathing.

This is reference material: it helps to understand how the disease works, but does not replace a consultation with a doctor who sees the person as a whole.

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