Autosomal recessive cutis laxa syndrome. A case report.

Abstract

Congenital cutis laxa (CCL) is a rare, genetically heterogeneous connective tissue disorder, manifested by loose, hanging skin, giving the appearance of premature aging. We report a 6-year-old female child with autosomal recessive CCL type III, to assess possible correlations between clinical, ultrastructural, cellular and biochemical features. Morphological aberrations of the elastic and collagen tissue, increased collagen I mRNA expression associated with increased protein synthesis and increased collagenase gene expression of the cutis laxa fibroblasts could be established. Our results suggest that CCL is not only a disease of the elastic fibers of the connective tissue but also of the collagen fibers, with a central role of the fibroblast.