Chromosomal alterations in scleroderma

Abstract

To bring some new arguments in support of the genetic theory regarding the etiology and pathogenesis of scleroderma 12 patients (2 males and 10 females, ranging in age between 13 and 64 years) with both localized and systemic scleroderma were studied. For each patient chromosomal preparations were made in cell cultures from peripheral blood. The structural cytogenetic aberrations, observed in proportion of 81.81%, were, in the order of frequency: chromatid breakage, gaps, acentric fragments, deletions. The alterations appeared both in the systemic scleroderma and in the localized one but cannot represent a factor of prognosis for the disease. The association of Raynaud's syndrome with cytogenetic aberrations may lead to an early diagnosis of the disease.