No mutation of elastin and fibulin-5 genes in a patient with acquired cutis laxa associated with chronic urticaria.

摘要

Madam, Cutis laxa (CL) is a rare disorder of unknown cause characterized by progressive looseness of the skin associated with abnormalities of other organs and structures containing elastic tissue such as lung, vasculature or gastrointestinal tract. The primary change is in the elastic fibre, which is almost absent or decreased in the dermis. Both inherited and acquired forms exist. The acquired form is less common than the inherited mode. The involved areas of the skin hang in loose pendulous folds. These findings may be localized or generalized. Approximately half the patients with acquired CL have a preceding or accompanying inflammatory eruption with ery-thematous papules or plaques. Mutations in the elastin (ELN) or fibulin-5 (FBLN5) genes have been identified in inherited CL. The association of the gene mutations with acquired CL is not clear, although Hu et al. reported a patient with acquired CL preceded by Toxocara amis parasitism and chronic urticaria; molecular genetic analysis revealed inherited mutations in the ELN and FBLNS genes that resulted in functional alterations in the corresponding gene products. Here we report a patient with acquired CL accompanied by chronic urticaria but no mutation In the ELN and FBLN5 genes.