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Scleroderma
Scleroderma
Scleroderma is a rare
autoimmune connective tissue disorder here are several types of scleroderma
where extensive fibrosis (development of excess fibrous connective tissue),
vascular alternations and auto-antibodies against cellular antigens are its
typical features. Estimated prevalence is in the range of 50-300 patients
per million and incidence is in the range of 2.3-22.8 patients per million a
year. Women are at higher risk and scleroderma is also slightly more common
amongst the African Americans.
There are two major subgroups
in the commonly accepted classification of scleroderma i.e. limited
cutaneous scleroderma and diffuse cutaneous scleroderma. In limited
cutaneous scleroderma the fibrosis is mainly limited to the hands, arms and
face. Reynolds's phenomenon is present for several years before fibrosis
appears and pulmonary hypertension is frequent. Diffuse cutaneous
scleroderma is a rapidly progressing disorder that affects a large part of
the skin and compromises one or more internal organ. Scleroderma can lead to
severe dysfunction and failure of almost any internal organ and the
prognosis depends on the organ affected.
The important features of
tissue lesions in various stages of scleroderma for early stage include
microvascular damage, mononuclear cell infiltrates and slow developing
fibrosis and in later stages the main findings include very densely packed
collagen in the dermis, loss of cells and atrophy.
Although there is limited
information on the pathogenesis of scleroderma, it is now known via
transcription profiling that the systemic signature of the disease is the
same in both affected and unaffected areas. Targeted inhibition of
signaling pathways by tyrosine kinase inhibitors and serine-threonine kinase
inhibitors and farnesyl transferase inhibitors could impact the disease
process. Identification of biomarkers such as transcription patterns and DNA
damage signatures have the potential for development of disease specific and
stage specific therapies.
SCLERODERMA: Armando
Gabrielli, MD., Enrico V. Avvedimento, MD., and Thomas Kreig, MD. NEJM
2009;360:1989-2003
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