Congetial cutis laxa syndrome: type II autosomal recessive inheritance

Tuysuz B., Arapoglu M., Ilikkan B., Demirkesen C., Perk Y.

TURKISH JOURNAL OF PEDIATRICS, vol.45, no.3, pp.265-268, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 3
  • Publication Date: 2003
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.265-268
  • Keywords: cutis laxa, type II recessive form, DELAYED DEVELOPMENT, LIGAMENTOUS LAXITY, LYSYL OXIDASE, COLLAGEN, GENE
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type H autosomal recessive disease.