Cutis laxa, autosomal dominant

Cutis laxa

Cutis laxa is a disorder characterized by redundant and inelastic skin. Acquired and inherited, autosomal dominant, autosomal recessive and X-linked forms are recognized. Autosomal dominant cutis laxa (MIM 123700) is caused by mutations in the elastin (ELN) and fibulin-5 (FBLN5) genes.  Autosomal recessive cutis laxa (MIM 219100) is caused by mutations in the EFEMP2 (fibulin-4 / FBLN4) and FBLN5 genes, and X-linked cutis laxa (occipital horn syndrome) is caused by mutations in the ATP7A gene. Autosomal recessive cutis laxa, although rare, is severe and includes systemic abnormalities of connective tissue. Findings in individuals with autosomal recessive cutis laxa due to EFEMP2 mutations have included emphysema or focal alveolar damage, tortuous blood vessels with arterial wall thickening, aneurysms of great vessels or aortic root, cardiac valve abnormalities, thickened myocardium, joint laxity, arachnodactyly or long hands, medial rotation of feet, pectus excavatum, fractures and hypoplastic diaphragm. A patient has been described with facial dysmorphism. Patients with autosomal recessive cutis laxa due to FBLN5 mutations also display generalized connective tissue abnormalities but aneurysms, diaphragmatic changes and arachnodactyly have not been described.