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Blood and immune system diseases

Systemic sclerosis (scleroderma)

An immune disease that affects the skin and internal organs. The skin becomes thick and hard. The lungs, heart, kidneys and digestive tract can also be affected.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, German, Spanish, Italian). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Blood and immune system diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The immune system is overactive and damages the body's own tissue. Too much of a protein called collagen is made. Scar tissue forms in the skin and organs. Small blood vessels are also damaged and blood flow is reduced.

Which symptoms can occur?

The disease often begins with Raynaud's. Symptoms may include:

  • Fingers turning white or purple in the cold (common)
  • Swelling of the fingers, then hardening of the skin
  • Sores on the fingertips
  • Difficulty swallowing and heartburn
  • Shortness of breath and a dry cough
  • Joint pain and stiffness
  • High blood pressure and kidney problems (sometimes)

How is it diagnosed?

The doctor examines the skin, lungs and heart. The small blood vessels at the base of the nails can be examined with a magnifier. Antibody tests are done on the blood. The organs are checked with a CT scan of the lungs, an ultrasound of the heart and breathing tests.

Treatment and care

Treatment is planned according to which organs are affected. Medicines that suppress the immune system can slow the disease. Medicines that help circulation, heartburn and blood pressure are also used. Physiotherapy and stretching exercises preserve movement. Keeping the hands and feet warm and stopping smoking are important. In some people whose disease progresses quickly, a stem cell transplant may be considered. Regular checks of blood pressure and the organs are needed. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Systemic sclerosis does not follow a set pattern of inheritance. Most people have no other affected family members. Some gene variants may slightly increase the risk. Genes and the environment play a role together.

Source: MedlinePlus Genetics: Systemic scleroderma · NHS: Scleroderma · MedlinePlus: Scleroderma

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Europe)
When does it usually start?
Adulthood

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Systemic sclerosis

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 162 active interventional studies for this disease. 89 are recruiting now; 7 have sites in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Blood and immune system diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:90291 · ICD-11 4A42

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.