Complex multidisciplinary care of hereditary ectopic mineralization disorder pseudoxanthoma elasticum
Keywords:
pseudoxanthoma elasticus, ectopic mineralization, ABCC6 gene, genetic diagnosis, rare disease, multidisciplinary management, dermatological imaging
Abstract
The authors summarize the up-to-date knowledge on pseudoxanthoma elasticum, a hereditary connective tissue disorder that results in the fragmentation and mineralization of elastic fibres. Three cases of pseudoxanthoma elasticum under complex dermatological, ophthalmologic and cardiovascular management are described, emphasizing the multidisciplinary aspects of dermatology.
