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Keywords:

  • cutis laxa;
  • wrinkly skin syndrome;
  • gerodermia osteodysplastica;
  • LOX;
  • FBLN4;
  • FBLN5

Abstract

Cutis laxa is a rare disorder of connective tissue in which the skin sags excessively, giving the individual an aged appearance. In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. Two individuals have been previously reported, and the third case is described in detail. No causative mutations were identified. © 2008 Wiley-Liss, Inc.