What is Cutis Laxa (Elastolysis) and how to treat this?
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.
@ayan No treatment exists to prevent disease progression, although dapsone can be used acutely to control swelling in persons with acquired cutis laxa (elastolysis), consistent with the suspected role of neutrophil elastase. Penicillamine and doxycycline are ineffective. Cutis Laxa Internationale is an international support group for patients with cutis laxa (elastolysis).