Systemic scleroderma

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. The word "scleroderma" means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin. Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.

The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis. Skin thickening usually occurs first in the fingers (called sclerodactyly) and may also involve the hands and face. In addition, people with systemic scleroderma often have open sores (ulcers) on their fingers, painful bumps under the skin (calcinosis), or small clusters of enlarged blood vessels just under the skin (telangiectasia).

Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).

There are three types of systemic scleroderma, defined by the tissues affected in the disorder. In one type of systemic scleroderma, known as limited cutaneous systemic scleroderma, fibrosis usually affects only the hands, arms, and face. Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of the condition: calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. In another type of systemic scleroderma, known as diffuse cutaneous systemic scleroderma, the fibrosis affects large areas of skin, including the torso and the upper arms and legs, and often involves internal organs. In diffuse cutaneous systemic scleroderma, the condition worsens quickly and organ damage occurs earlier than in other types of the condition. In the third type of systemic scleroderma, called systemic sclerosis sine scleroderma ("sine" means without in Latin), fibrosis affects one or more internal organs but not the skin.

Approximately 15 percent to 25 percent of people with features of systemic scleroderma also have signs and symptoms of another condition that affects connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome.

ORPHANET DEFINITION Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma.

Causes

From: MedlinePlus Genetics, National Library of Medicine

Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body. Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Not inherited; Pattern unknown

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Point prevalence: 1-5 / 10 000; Europe; Value and class. Annual incidence: >1 / 1000; Spain; Value and class. Point prevalence: 1-5 / 10 000; Spain; Value and class. Point prevalence: 1-9 / 100 000; United Kingdom; Value and class.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormality of the gastrointestinal tract · Very frequent (99-80%)

An abnormality of the gastrointestinal tract.

Antinuclear antibody positivity · Very frequent (99-80%)

The presence of autoantibodies in the serum that react against nuclei or nuclear components.

Arthralgia · Very frequent (99-80%)

Joint pain.

Cutaneous sclerotic plaque · Very frequent (99-80%)

A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).

Myalgia · Very frequent (99-80%)

Pain in muscle.

Thickened skin · Very frequent (99-80%)

Laminar thickening of skin.

Raynaud phenomenon · Very frequent (99-80%)

Abnormal esophagus morphology · Frequent (79-30%)

A structural abnormality of the esophagus.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormal pulmonary interstitial morphology (Frequent (79-30%)); Abnormality of the kidney (Frequent (79-30%)); Acral ulceration (Frequent (79-30%)); Anti-B23 antibody positivity (Frequent (79-30%)); Anti-Ku antibody positivity (Frequent (79-30%)); Anti-PM-Scl antibody positivity (Frequent (79-30%)); Anti-PM-Scl100 antibody positivity (Frequent (79-30%)); Anti-PM-Scl75 antibody positivity (Frequent (79-30%)); Anti-RNA-polymerase-III-autoantibody positivity (Frequent (79-30%)); Anti-Ro52/TRIM21 antibody positivity (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Adult

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Not inherited; Pattern unknown

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Point prevalence: 1-5 / 10 000; Europe; Value and class. Annual incidence: >1 / 1000; Spain; Value and class. Point prevalence: 1-5 / 10 000; Spain; Value and class. Point prevalence: 1-9 / 100 000; United Kingdom; Value and class.

Which doctor should you see?

The suggested department for discussing Systemic scleroderma is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Systemic scleroderma. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.