What is scleroderma, what are its forms? Systemic and localized scleroderma and symptoms

Scleroderma is a chronic systemic and autoimmune disease characterized by a progressive nature.

It is divided into two basic forms. The milder one is called localised scleroderma. The more serious one is systemic scleroderma characterized by multisystem disorders.

In the past, the localised form was considered insignificant, without possible complications, but recent advances refute this theory.

Thus, complications can occur in both forms of scleroderma.

The disease is called scleroderma because the condition is manifested by skin changes.

Scleroderma = thickened skin, from Greek skleros = hard, thickened, derma = skin. 
Note, however, thatž the disease is not only about the skin.

The localised form was named after the fact that it mostly affects the skin, subcutaneous tissue, or nearby subcutaneous structures, such as muscles or bones.

The more serious one is the systemic form which is characterized not only by skin changes but also by damage to several parts of the body. Its overall course depends on the associated complications resulting from the disability of the organ or body system.

Although its cause is unknown, there is a specific treatment. It can, to some extent, affect the symptoms of the disease and the negative impact on quality of life.

Early detection of the disease, its classification by form and early treatment are important, since a more serious course in the generalised form means a potential threat to life.

Some facts on scleroderma worth knowing:
It affects women 8 times more often than men.
It usually starts between the ages of 25 and 55.
However, it also affects children.
The approximate increase is 8 - 33 patients per 100,000 inhabitants.
About 2.5 million people worldwide are reported to have the disease.

Learn more about scleroderma below.

Scleroderma is not just a skin disease

This disease is a systemic and an autoimmune disease. It mostly affects connective tissue, which is further related to a microcirculation disorder, i.e. poor blood supply at the level of the smallest blood vessels.

Collagen is pathologically stored in places such as the skin, subcutaneous tissue and, in some cases, the organs. Fibrotic changes and binding are subsequently associated with dysfunction.

The disease has a systemic and a progressive attribute because it not only affects the skin, but can be complicated by affecting various internal organs.

For example, the digestive tract, intestines (gastrointestinal tract), but also the lungs, heart or kidneys and eyes.

Progressive disease means that it develops and worsens over time. That is why its early detection and treatment is important.

Scleroderma is divided into two basic forms, localised and systemic, which are then divided into certain subtypes. In children, the disease is referred to as juvenile scleroderma.

Table: Classification of scleroderma

The reason why scleroderma occurs is unknown. It is a disease that ranks among autoimmune, rheumatic diseases. Thus, autoimmunity, which is a pathologically altered immune system, is directed against its own cells.

There's more.

The multifactorial impact that triggers this autoimmune response is thought to:

• genetic predisposition
  • direct family inheritance is not confirmed
• HLA system antigens present
• endothelial dysfunction
• certain ethnic origins
• being female
• hormonal changes
• stress afnd emotional burden
• environmental impact
  • action of some chemicals or medications (organic solvents, vinyl chloride, bleomycin)
  • infection with viruses or bacteria, outbreak after Borrelia burgdorferi
  • hard work, frequent vibrations and the like

The cause of the disease is not known.
However, it is a chronic inflammatory reaction that affects the skin and subcutaneous tissue. Plus, the musculoskeletal system and internal organs such as the organs of the digestive system, lungs, heart, blood vessels, kidneys and eyes are also affected.

To put it simply...

Autoimmune processes cause overproduction of collagen + disorder of microcirculation, ie congestion at the level of the smallest vessels. Collagen is then stored in the skin, subcutaneous tissue and sometimes in the organs. Fibrotization and storage of other substances is also used for increased production.

The result is changes in the skin, subcutaneous tissue of adjacent structures and dysfunction of the affected organs.

Roughly 15-20% of cases are associated with the presence of another autoimmune disease.

The disease is not transmissible from person to person, i.e. it is neither infectious nor contagious, although it is claimed that some infections with viruses or bacteria can trigger it.

The symptoms of scleroderma depend on its form. As the table shows, there are several options.

The term scleroderma describes roughening and hardening of the skin.

However, it is a systemic disease that also damages internal organs.

Typically, there are pathological changes in the skin and subcutaneous tissue, or even deeper into the muscle or bone. But this does not apply to 100% of cases.

Therefore, it is important to recognize the other accompanying features and determine the exact form of the disease.

In the beginning, it is possible that it manifests itself in general difficulties, such as weakness, fatigue, loss of appetite and loss of weight, but also joint pain.

An example is the early fading of fingers and toes in a cold environment. This is called Raynaud's phenomenon.

Manifestations of scleroderma are very diverse and individual.

In children, the complication is the occurrence of a linear form in the limbs. Then, in addition to affecting the skin, the disease also affects the muscles and bones. The result is a slowing of bone growth in one limb, and thus a different limb length.

And so, skin change looks like ...

Localised scleroderma manifests as hardening of the skin, with initially depigmented pale skin clearly delimited and isolated by a red to purple outer edge.

+ ... discolouration, similar to bruising, and recurring change of colour to a whitish deposit.

The linear form manifests itself similarly, but also in lines. Strips of affected skin occur on the limb or torso, but also on the neck and head. The possibility is a deep damage to the subcutaneous tissue, muscle or bone.

The systemic form is more severe.

Systemic scleroderma is characterized by involvement of other areas of the human body, organs.

Damage to the esophagus may be associated. Patients experience difficulty swallowing, heartburn, or spread to the intestines and the associated difficulties and changes in digestion, weight loss.

Pulmonary complications are serious, more specifically fibrous changes in lung tissue. Shortness of breath is present at that time, and death occurs due to advanced lung damage.

Skin changes take place in three stages:

1. inflammatory phase with swelling, such as the first seepage of skin with swelling
2. sclerotic phase, when the swelling subsides and the stiffness of the skin and subcutaneous tissue changes
3. atrophic phase - the skin is stiff, loses elasticity, loss of facial expressions on the face, inability to bend in the joints on the hands - so-called claw hand deformity

Some symptoms of scleroderma:

• skin changes, circles or lines
  • color changes, depigmentation, paleness, and possible alternation of hyperpigmentation
  • swelling
  • shiny and tight skin
  • hair loss
  • fixation of the skin to deeper layers
  • hardening
  • skin calcification - calcium deposition
  • small dilated blood vessels - telangiectasia
  • Raynaud's phenomenon - face on the nose or chin, upper limbs of the hand and lower leg, up to necrosis and gangrene of the acral parts, amputation needed
  • skin defects, ulcers, on the toes, or in places with frequent wear, such as heels, ankles
  • the inability to express ideas by means of gestures or signs - amimia
  • reduction in the size of the oral aperture - microstomia
  • tight lips
  • wrinkled skin around the mouth
  • claw-shaped hand
• weakness and fatigue
• muscle weakness, atrophy, muscle pain
• joint pain, even with morning stiffness
• deformities and stiffness of joints, tendon involvement
• osteoporosis
• inflammation of the uvea - uveitis
• dysfunction of the oesophagus and the associated problem of swallowing, heartburn
• intestinal involvement - abdominal pain and cramps, weight loss, indigestion, insufficient intestinal absorption, bloating and loss of appetite, constipation or diarrhea, disruption of the normal propulsive ability of the intestine - ileus
• lung damage - pulmonary fibrosis, which is life-threatening, but also a reduction in lung capacity and the associated difficulty breathing or pulmonary hypertension
• heart problems - arrhythmia, pericarditis, myocarditis, or inflammation of the heart, heart failure
• vascular damage and circulatory disorders of various organs and heart
• renal impairment, with severe hypertensive crisis - malignant high blood pressure, risk of stroke or heart attack
• neurological problems - neuropathy, carpal tunnel syndrome and others
• sexual function - possible erectile dysfunction in men
• behavioural changes, depression, anxiety

The symptoms of the disease are individual for each person and can significantly reduce and limit the quality of life.

Medical history and clinical picture are important in diagnosis. Man describes his difficulties or problems associated with the disease. This is followed by an examination of the skin, but also a general physical examination.

It is necessary to evaluate and determine the form of scleroderma. This is also of therapeutic importance and important for anticipating complications.

Skin biopsy and blood or urine collection for laboratory examination are also used for diagnosis. In this case, the presence of various antibodies, CRP, blood count is evaluated.

Examination to check for Raynaud's phenomenon and diagnostic methods associated with it (capillaroscopy) are added to the screening. X-rays, CT, ECG, ECHO, blood pressure, bronchoscopy, GFS and other exams are used to check for other organ damage.

The course of the disease is individual.

Localised scleroderma has a better prognosis. It also mentions spontaneous receding and healing of the skin after several years. However, about a quarter of cases are complicated.

In children, the growth stage is especially at risk, when it can cause uneven limb lengths.

It has no organ complications. Of course, treatment and monitoring of the disease cannot be underestimated.

This less severe form rarely transitions to a generalized form. On the other hand, there is juvenile systemic scleroderma, which is associated with organ damage. It is very rare in childhood.

It is therefore a long-term and several-year occurrence of difficulties. Despite possible spontaneous remission, treatment that shortens the duration is significant.

Systemic scleroderma can also have an acute, rapidly progressing course when organ changes are associated in a short time. In this case, early treatment is even more important.

The course of the disease can also be chronic. Raynaud's phenomenon often occurs early, even several years in advance of the onset of organ damage.

A worse course should be expected in people with the first wave of difficulties after the age of 45, in men, with damage to the kidneys, heart or lungs, especially if they occurred in the first three years from the beginning.

Even in this case, the need for appropriate treatment applies.

Early detection of the disease and its early treatment =better prognosis and quality of life.