Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease.
View Article and Find Full Text PDFThe silicosis is the pneumoconiosis more frequent, resulting from the inhalation of silica or silicates containing mineral dust, mainly characterized by irreversible lung fibrosis. It is associated with the development of other diseases, including pulmonary tuberculosis, lung cancer and autoimmune diseases. The connective tissue disease after exposure to silica occurs usually after 15 years of initial exposure.
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