Cutis laxa (CL), or elastolysis, is a rare, inherited or acquired connective-tissue disorder in which the skin becomes inelastic and hangs loosely in folds. Patients develop a prematurely aged appearance.
The clinical presentation and the mode of inheritance show considerable heterogeneity. Autosomal dominant, autosomal recessive, and X-linked recessive patterns have been noted in inherited forms. A serine to proline amino acid substitution in the fibulin 5 (FBLN5) gene has been associated with problems in normal elastogenesis, resulting in a recessive form of cutis laxa (elastolysis) in humans.
Autosomal recessive cutis laxa is a genetically heterogeneous condition.
A combined disorder of N- and O-linked glycosylation has been described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures, and hearing loss.
The X-linked form is currently classified in the group of copper transport diseases. The precise cause is unknown, but it may be due to abnormal elastin metabolism resulting in markedly reduced dermal elastin content. Autosomal dominant congenital cutis laxa (ADCL) is genetically heterogeneous and shows clinical variability. Mutations in the elastin gene (ELN) have been described.
In both the inherited type and the acquired type, the internal organs are frequently involved. Cutis laxa (elastolysis) may be preceded by an inflammatory rash, such as urticaria,
or it may develop spontaneously.