Scleroderma

Scleroderma ( Greek σκληρός skleros "hard", English scleroderma ) literally means " hard skin ". It is accompanied by a group of various rare diseases with a Bindegewebsverhärtung the skin alone or skin and internal organs (especially the digestive tract, lungs, heart and kidneys). Scleroderma is one of the so-called collagen diseases ( a group of autoimmune connective tissue diseases ).

Scleroderma is not curable, the disease can also be slowed or stopped with medication and specialized rehabilitation. The former name of progressive systemic scleroderma has therefore been modified in favor of the current name of systemic sclerosis. Diagnosis and treatment of scleroderma requiring special medical experience with these diseases. The German Federal Ministry of Education and Research ( BMBF) research network for systemic sclerosis has therefore designated clinics and centers as part of its patient information, the feature in Germany have enough experience with this disease (see below links).

Molding

In recent years, the nomenclature of scleroderma has changed dramatically. Today morphea are ( localized scleroderma ), limited and diffuse systemic sclerosis skin and systemic sclerosis accepted forms.

The on the skin and adjacent tissue ( subcutaneous fat, muscle and sometimes bone ) limited form is also known as localized scleroderma or morphea.

Scleroderma, which also affects the internal organs, also called systemic sclerosis (English: systemic sclerosis ). A distinction is limited (limited) and diffuse progressive forms. The so-called CREST syndrome ( calcinosis, Raynaud's phenomena, Esophageal dysmotility, Sclerodactyly, telangiectasia ) is a sub-form of limited systemic sclerosis and identifies a common pattern of disease. The connective tissue of the lung, kidney, esophagus and heart is considered to be particularly vulnerable. The pulmonary involvement is now the most common cause of death in systemic sclerosis.

Causes

The cause of scleroderma is not known. Genetic factors and pathological autoimmune processes have been demonstrated. May be stimulating autoantibodies against the receptor of the growth factor platelet derived growth factor ( PDGF), the cause of the disease. It was also associated with cancers beobachtet.Etwa 2-50 of 100 000 people fall ill, usually with 50 to 60 years. Women are about three to four times more frequently affected than men. It is expected that about 1 to 2 new cases per 100 000 people / year.

Disease

Scleroderma is spreading per se painlessly from, but occasionally go with the disease quite painful arthralgias and myalgias associated. The rate of disease progression is variable and includes fast curves, gradients over the years and self-limiting forms that come by themselves to a standstill (common in morphea ). Because of the rarity of the disease and the very different course with variable organ involvement, the disease is, for example, especially in the absence of typical symptoms in the early stages is difficult to diagnose.

An early symptom of generalized scleroderma are the shortening of the lingual frenulum and Raynaud's syndrome. Following there is edema of the hands and feet. The skin becomes rigid to atrophy then. At this stage it looks waxy and thin. Finally deform hands: The fingers remain fixed in flexion ( claw hand) and are strongly narrowed ( Madonna finger). Characteristic symptoms in the course are the mask face with rigid facial expression, microstomia ( the mouth can not be opened wide ) as well as problems with eyelid closure. Radially arranged wrinkles around the mouth are called tobacco pouch mouth.

Laboratory parameters

The proof is by laboratory tests performed ( autoantibodies in the serum, such as: ANA and extractable nuclear antigens or specifically anti -SCL 70 in systemic sclerosis and anti -centromere antibodies with CREST syndrome). The organ involvement in systemic sclerosis can be checked by biopsy, pulmonary function tests and computed tomography. An increased γ - globulin fraction can polyclonal conditionally, his expression a late stage of acute inflammation or chronic inflammation or cirrhosis.

Therapy

A general "cure" the disease is currently not possible, therapy is individual to the present symptoms and organ involvement oriented. E.g. in patients with pulmonary involvement can be favorably influenced by cyclophosphamide course of the disease may be. Bone marrow transplantation is currently being tested. The disease was formerly often treated with glucocorticoids, but we know now that the use in systemic sclerosis is not unproblematic. For example, the use of glucocorticoids increases the risk of a life-threatening circumstances renal crisis. Therefore, glucocorticoids should not be generally used as " basic therapy ".

New studies show that especially an individual combination therapy is helpful, which is determined by disease and type of organ involvement. In particular, the three typical medical awareness processes vasculopathy, autoimmunity and fibrosis must be considered. Especially substances which are used for other autoimmune diseases ( such as rituximab, tocilizumab and IVIG, can achieve a good effect even in systemic sclerosis. A large study from November 2013 put the already standard therapy and possible pioneering new therapies together.

In addition come physiotherapy, occupational therapy, massage and (P) UVA irradiation ( phototherapy ) used. Also, avoid exposure to cold, especially in the context of Raynaud's symptoms is useful.

The drug bosentan, which was successfully tested in studies, has been approved for the prevention of digital ulcers as a complication of scleroderma since 2007 ( finger or toe ulcers, which are extremely painful and heal poorly, partially amputation is necessary).

Cure views

The overall prognosis is not primarily determined by the symptom and diagnostic performance of the individual body parts affected. The curves can be very difficult to assess in each case. Fulminant courses can lead to death within a few months. In women, the course is more favorable than in men. By drug therapy of the possible complications of kidney infestation can be a forecast improving effect can be achieved. The circumscribed scleroderma ( morphea ) is not life threatening in their usual course form. At most pronounced in disease in the joint area may lead to movement restrictions.