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Scleroderma, familial progressive

Systemic sclerosis is a clinically heterogeneous connective tissue disorder characterized by immune activation, vascular damage, and fibrosis of the skin and major internal organs. Clinical and experimental data suggest that the disorder is multifactorial, involving both genetic and environmental factors (Fonseca et al., 2007). Gabrielli et al. (2009) provided a detailed review of scleroderma, including clinical manifestations and pathophysiology. See also Reynolds syndrome (613471), which shares some clinical features with scleroderma and CREST syndrome. [from OMIM]

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CREST syndrome

A variant of systemic scleroderma characterized by features such as calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia. [from NCI_NICHD]

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Disease or Syndrome

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