A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
Cutis Laxa (CL) is a rare disease in which the skin loses its elasticity and hangs in large folds. It is an inherited or acquired connective tissue disorder. We report the case of a 29 year-old woman followed up since 4 years for a dermatomyositis treated with glucocorticosteroids and methotrexate. She was hospitalized in February 2012 for fever, arthralgia, pelvic and shoulder muscle weakness with myalgia, malar rash, thrombocytopenia, leucopenia and lymphocytopenia Immunological tests showed Antinuclear Antibodies (ANA) (+) to 1/640, AC antiDNA (+) and AC anti-SSA (+). Histology of the salivary glands showed grade III lymphocytic sialadenitis. The systemic lupus erythematosus and secondary Sjögren’s syndrome were diagnosed. The patient was treated with glucocorticostroids, methotrexate, nivaquine and bissolvon. One year later, the patient presented a skin aging that began in hands which has expanded rapidly in the face. The skin biopsy confirmed the diagnosis of a "Cutis Laxa". The esthetic treatment is proposed.