Scleroderma (Greek σκληρός sklēros “hard”, English scleroderma; literally means “hard skin“) is a group of rare diseases associated with leathery hardening of the connective tissue of the skin. The disease belongs to the group of collagenoses (chronic inflammatory autoimmune diseases of the connective tissue). The immune system attacks the body’s own collagenous connective tissue. Two main forms of scleroderma are distinguished (see “Classification” below):
- Chronic cutaneous circumscritic scleroderma (ICD-10 L94.-: Other localized diseases of connective tissue) – confined to the skin and adjacent tissues such as subcutaneous fat, muscle, and bone; most common form of scleroderma.
- Systemic scleroderma (SSc; ICD-10 M34.-: Systemic sclerosis) – is characterized by vasculopathy (group of primarily non-inflammatory vascular diseases of various causes) and fibrosis (abnormal proliferation of connective tissue) of the skin and internal organs; mainly affected are the gastrointestinal tract (digestive tract; in 90% d. The gastrointestinal tract (digestive tract; in 90% of cases the esophagus is affected), lungs (in 48% of cases), heart (in 16% of cases) and kidneys (in 14% of cases). A distinction is made between the following subtypes:
- Limited-cutaneous systemic scleroderma – internal organs are rarely and late affected.
- Diffuse-cutaneous scleroderma (synonyms: diffuse scleroderma; progressive systemic sclerosis) – rapid progression (progression).
- Special forms:
- CREST syndrome (ICD-10 M34. 1) – combination of calcinosis cutis (pathologic (abnormal) deposition of calcium salts), Raynaud’s syndrome (vascular disease caused by vasospasm (vascular spasm)), esophageal dysmotility (dysfunction of the esophagus), sclerodactyly (scleroderma of the fingers), telangiectasis (usually acquired dilation of small, superficial skin vessels)Note: The term CREST syndrome was abandoned by the ACR/EULAR working group in favor of the term lcSSc (“limited cutaneous systemic sclerosis”) because a large number of patients often did not develop all the hallmarks of this disorder.
- Overlap syndromes
Sex ratio: chronic cutaneous circumscritic scleroderma: males to females is 1: 2.6 to 6. systemic scleroderma: males to females is 1: 5. Peak incidence: the maximum incidence of chronic cutaneous circumscritic scleroderma is between the ages of 20 and 40. The maximum incidence of systemic scleroderma is between the ages of 30 and 50 (60) years.The mean age of onset of juvenile systemic scleroderma is around 8 years of age. The prevalence (disease incidence) of systemic scleroderma (SSc) is 300 diseases per 1 million population. The incidence (frequency of new cases) for chronic cutaneous circumscritical scleroderma is approximately 2.7 cases per 100,000 population per year and the incidence for the juvenile form is 3.4 cases per 1 million children per year. The incidence for systemic scleroderma (SSc) is 19-40 diseases per 1 million population per year. Course and prognosis: Scleroderma is usually painless. Occasionally, painful myalgias (muscle pain) and arthralgias (joint pain) may occur. Cutaneous circumscritic scleroderma progresses chronically with focal growth. Especially in the linear form with defects (see “Classification” below), spontaneous remission (improvement or freedom from symptoms) occurs after 3-5 years. The course of systemic scleroderma is chronic-progressive (permanently progressive) and lasts for several years. Organ damage develops as early as the first year after the onset of Raynaud’s syndrome (RS). If the gastrointestinal tract is affected in systemic scleroderma, there is a risk of malnutrition (in about 30% of cases). Malnutrition per se is associated with increased morbidity (incidence of disease) and ultimately mortality (number of deaths in a given period, relative to the number of the population in question). Juvenile systemic scleroderma affects internal organs such as the esophagus (food pipe), gastrointestinal tract (gastrointestinal tract), heart, lungs, and kidneys, so the course and prognosis are highly dependent on the type and severity of organ involvement. There is no cure for scleroderma. There are both rapid and slow courses.A fulminant course is also possible, i.e. the affected person dies within a few months. Women have a more favorable course than men. The course of the disease can be positively influenced, slowed down and in some cases even stopped by means of drug therapy and special rehabilitation measures. Since the disease cannot be treated causally, the focus is on ensuring the quality of life of those affected. In the context of juvenile systemic scleroderma, the lethality (mortality related to the total number of people suffering from the disease) after 5 years of disease duration is about 5%. The 10-year survival rate in severe cases of systemic scleroderma (skin type III and multisystemic disease, see “Classification” below) is about 40 %. The most common causes of death are pulmonary complications or pulmonary arterial hypertension (PAH; increased pressure in the pulmonary arterial system).
