title: Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment.
abstract: Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare heritable disease with an estimated prevalence of 1:50,000 in the general population. PXE is considered a prototype of multisystem ectopic mineralization disorders and it is characterized by aberrant mineralization of soft connective tissue with degeneration of the elastic fibers, involving primarily the eyes, the cardiovascular system, and the skin. Cutaneous lesions consist of small, asymptomatic, yellowish papules or larger coalescent plaques, typically located on the neck and the flexural areas. PXE is caused by mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene that encodes a transmembrane ATP binding efflux transporter, normally expressed in the liver and the kidney; however, the exact mechanism of ectopic mineralization remains largely unknown. The histological examination of cutaneous lesions, revealing accumulation of pleomorphic elastic structures in middermis, is essential for the definitive diagnosis of PXE, excluding PXE-like conditions. PXE is currently an intractable disease; although the cutaneous findings primarily present a cosmetic problem, they signify the risk for development of ocular and cardiovascular complications associated with considerable morbidity and mortality. The purpose of this review is to present a comprehensive overview of this rare form of hereditary connective tissue disorders, focus on the pathogenesis, the clinical manifestation, and the differential diagnosis of PXE. Emphasis is also placed on the management of cutaneous lesions and treatment perspectives of PXE.
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Barbara
authors.initials: B
authors.lastname: Marconi
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Ivan
authors.initials: I
authors.lastname: Bobyr
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Anna
authors.initials: A
authors.lastname: Campanati
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Elisa
authors.initials: E
authors.lastname: Molinelli
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Veronica
authors.initials: V
authors.lastname: Consales
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Valerio
authors.initials: V
authors.lastname: Brisigotti
authors.affiliation: Institute of Pathological Anatomy and Histopathology, Polytechnic University Marche, Ancona, Italty.
authors.forename: Marina
authors.initials: M
authors.lastname: Scarpelli
authors.affiliation: Institute of Pathological Anatomy and Histopathology, Polytechnic University Marche, Ancona, Italty.
authors.forename: Stefano
authors.initials: S
authors.lastname: Racchini
authors.affiliation: Dermatological Unit, Department of Clinical and Molecular Sciences, Polytehnic Marche University, Ancona, Italty;
authors.forename: Annamaria
authors.initials: A
authors.lastname: Offidani
keywords: Pseudoxanthoma elasticum; orphan disease; skin