AUTOSOMAL RECESSIVE CUTIS LAXA SYNDROME - A CASE-REPORT

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