Cutis laxa with growth and developmental delay

Abstract

Congenital cutis laxa is a rare inherited disorder of connective tissue manifested by loose, hanging skin. Cutis laxa may be inherited (autosomal dominant, autosomal recessive) or acquired. As opposed to the recessive form of cutis laxa, the dominant form has been reported to be free of pulmonary and other internal manifestation.' Skin fibroblast cultures from cutis laxa patients exhibit reduced elastin. The genetic map locus of autosomal dominant form is 7q11.2. Tassabehji et a12 have described patients with autosomal dominant cutis laxa and mutations in elastin gene.