Section Editor Prof. Dr. Jan C. Simon, Leipzig
Systemic sclerosis – dermatological aspects. Part 1: Pathogenesis, epidemiology, clinical findings
Article first published online: 22 AUG 2012
© The Author • Journal compilation © Blackwell Verlag GmbH, Berlin
JDDG: Journal der Deutschen Dermatologischen Gesellschaft
Volume 10, Issue 10, pages 705–716, October 2012
How to Cite
Sticherling, M. (2012), Systemic sclerosis – dermatological aspects. Part 1: Pathogenesis, epidemiology, clinical findings. JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 10: 705–716. doi: 10.1111/j.1610-0387.2012.07999.x
Sclerosis is a uniform reaction of the skin and the connective tissue framework of numerous internal organs to different triggers. Dermatologically, circumscript scleroderma can be differentiated from systemic scleroderma with an inflammatory background and from skin sclerosis of other cause.
Pathogenetically, the vasculature, connective tissue and immune system are involved; the temporal sequence and relative significance of the different components is unclear.
Animal models are available only to a limited extent. Cutaneous chronic graft-versus-host disease reflects only partial aspects of PSS.
A genetic predisposition to systemic scleroderma is probable. Various triggers can in face of a predisposing immunogenetic and inflammatory background lead to manifestation or maintenance of the disease.
Systemic scleroderma is characterized by an antiendothelial environment that leads to reduced neovascularization and the clinical signs and symptoms of a vasculopathy.
Fibrosis is due to an increased deposition and reduced degradation of components of the extracellular matrix. Cellular (fibroblasts) as well as extracellular components (matrix metalloproteinases and their inhibitors) are involved.
Elements of cellular and humoral immunity are centrally involved in the pathogenesis of systemic scleroderma. Cytokines, adhesion molecules as well as specific autoantibodies are associated with disturbances of the vascular system and connective tissue in a not yet clearly defined relationship.
The diagnosis of systemic scleroderma is based on the presence of proximal diffuse sclerosis, basal lung fibrosis, sclerodactyly and acral necrotic areas. Additional criteria are currently being discussed and will lead to an adjustment of diagnostic criteria.
Clinically and immunoserologically two forms of systemic scleroderma can be differentiated, the limited and diffuse form.
The Raynaud phenomenon is positive in over 90 % of all patients with systemic scleroderma. It describes an attack-like reduced perfusion, blood stasis and reactive hyperperfusion with the colors white-blue-red. Two phases including the reduced perfusion (white) are required for the diagnosis.
Digital ulcers are clinical signs of the underlying vasculopathy and result in a severe impairment of quality of life of those affected. They therefore represent a central therapeutic goal in the management of scleroderma patients.
Important clinical signs and symptoms of skin sclerosis are loss of facial expression (mask face), microstomia and perioral folds.
Internal organs are affected to an individually variable degree and course. Important for the prognosis of the affected is particularly the involvement of heart, lungs and kidneys. A great discrepancy exists between post mortem findings and clinically symptomatic lesions.
Pulmonary arterial hypertension (PAH) is a prognostically significant complication of both subtypes of scleroderma. Its early recognition and therapy is important for the survival of the patient.
Renal crises are important complications of renal involvement. They are particularly seen in diffuse scleroderma of an early stage in the first two years and correlate with administration of systemic corticosteroids. These should therefore only be employed on a short-term basis.
Sicca symptoms of eyes, mouth and genital mucosa should be specifically sought and documented. Men should be asked if symptoms of erectile dysfunction are present.
- Issue published online: 26 SEP 2012
- Article first published online: 22 AUG 2012
- Submitted: 27. 4. 2012 | Accepted: 26. 6. 2012
- 23Arbeitsgruppe Sklerodermie der Arbeitsgemeinschaft Dermatologische Forschung (ADF). Klinik der progressiven systemischen Sklerodermie (PSS). Hautarzt 1986; 37: 320–4.