Scleroderma: symptoms, types, causes and treatment

The symptoms depend on which type of scleroderma someone has. The NHS describes the following for each of the main types. Arthritis UK adds that everyone’s experience differs, and that most people with systemic sclerosis have some Raynaud’s, skin thickening, heartburn or swallowing problems.

The word scleroderma means hard skin, and Arthritis UK calls it an older term. Today it is used as an umbrella for several conditions in which the immune system is overactive and connective tissue becomes scarred and thickened. The NHS explains that some types may eventually improve on their own, while others can lead to severe and life-threatening problems.

Because the range is wide, it helps to ask which type of scleroderma someone has. The answer shapes everything: how often to be monitored, which organs to check and what the outlook may be.

The NHS says localised scleroderma can affect children and adults and mostly affects the skin, causing one or more hard patches, though it can also reach tissues beneath the skin such as muscle and bone. Plaque morphoea is most common in adults and causes discoloured oval patches that may be hairless and shiny; it may improve after a few years, and treatment may not be needed.

Linear morphoea causes thickened skin in lines, mostly along the arms and legs of children but also on the forehead and scalp. It can affect underlying bone and muscle and, although it may improve after a few years, can leave permanent problems such as shortened limbs or vision problems.

In systemic sclerosis, the NHS says, internal organs can be affected as well as the skin. It describes limited cutaneous systemic sclerosis, which usually affects skin on the hands, lower arms, feet, lower legs and face and tends to get gradually worse but is generally less severe, and diffuse systemic sclerosis, where skin changes can affect the whole body and internal organs are more likely to be involved.

Arthritis UK says symptoms vary widely between people. Most people have some Raynaud's, skin thickening, heartburn or swallowing problems. About one in five people with systemic sclerosis will also have another condition such as lupus, Sjögren's disease or inflammatory arthritis.

• Raynaud's: fingers or toes turning white then blue in the cold.

• Thickened, shiny skin on the hands, arms and face, and swelling of the hands and feet, especially in the morning.

• Small red spots on the face, hands and arms.

• Heartburn and difficulty swallowing.

• Joint stiffness and pain, and sometimes muscle weakness.

• Fingertip ulcers and chalky lumps under the skin in some people.

Arthritis UK lists the serious problems that can occur: scarring of the lungs causing breathlessness and a dry cough, narrowing of the blood vessels of the lungs causing high blood pressure in the lungs, and kidney problems resulting in high blood pressure. The NHS also mentions the heart, lungs and kidneys, with shortness of breath, high blood pressure and pulmonary hypertension among possible consequences.

Arthritis UK describes a sudden blood pressure rise that can damage the kidneys as a systemic sclerosis renal crisis, which can be treated or prevented with medicines that control blood pressure, particularly ACE inhibitors. This is why regular blood pressure checks are part of care, as the NHS also states.

Arthritis UK says there is no single test, and often the thickening of the skin is the key reason a doctor makes the diagnosis. Your doctor may then arrange tests to find out whether other parts of the body are affected. These can include blood tests, X-rays and CT scans, breathing tests, a heart scan such as an echocardiogram, stomach tests such as endoscopy, a skin biopsy, and capillaroscopy, which looks at the small blood vessels around the fingernails.

It says some of these tests are often performed only at specialist centres. The NHS says part of the aim of treatment is to detect and treat any complications early.

The NHS says the aims are to relieve symptoms, prevent the condition getting worse, detect and treat complications and help you keep using affected parts of the body. Common treatments include medication to improve circulation, medicines that reduce immune activity and slow progression, steroids for joint and muscle problems, moisturising the skin, and medicines for pain, heartburn and high blood pressure.

Arthritis UK names circulation-improving drugs such as nifedipine and sildenafil for Raynaud's, antacids or proton pump inhibitors for heartburn, and, for more severe disease, immunosuppressive drugs and, sometimes, rituximab. The NHS adds physiotherapy and stretching, an occupational therapist for adapting daily life, keeping hands and feet warm, eating healthily and stopping smoking. Scleroderma & Raynaud's UK is the dedicated charity.

The NHS says women with systemic sclerosis may find it harder to get pregnant and could have a slightly higher risk of miscarriage and premature birth. If a pregnancy is planned in consultation with a doctor while the condition is stable, there is no reason why a woman with systemic sclerosis cannot have a successful pregnancy.

Raynaud’s, where fingers and toes turn white, blue and red in response to cold, is often the first sign of systemic sclerosis, according to Arthritis UK, but most people with Raynaud’s do not have scleroderma. The NHS says to see a GP if Raynaud’s symptoms are very bad or getting worse, affect your daily life or are only on one side of the body. It also says to see a GP if you have joint pain, skin rashes or muscle weakness alongside Raynaud’s, if you are over 30 and get Raynaud’s for the first time, or if your child is under 12 and has symptoms.

Hard, thickened or discoloured patches of skin, or new breathlessness, difficulty swallowing or heartburn in someone with scleroderma, should also be mentioned to your doctor, because the NHS lists shortness of breath and high blood pressure among the possible organ problems and says regular blood pressure checks and other tests are part of care.

On the NHS the first step is a GP, who may arrange blood tests and refer you to a rheumatology or dermatology team. Arthritis UK says some of the tests for systemic sclerosis are often performed only at specialist centres, and recommends regular check-ups, preferably once a year.

Private rheumatology and dermatology services can offer assessment, blood tests and scans, but long-term monitoring and treatment of organ complications are normally co-ordinated through a specialist team, so ask who will take responsibility for annual checks of the lungs, heart and blood pressure. Scleroderma and Raynaud’s UK (SRUK) is the dedicated charity for support.