title: Pseudoxanthoma elasticum.
abstract: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, characterized by elastic fibers mineralization and fragmentation, and affects the skin, eyes, cardiovascular system, and gastrointestinal system. PXE is caused by mutations in the ABCC6 gene, located on chromosome 16p13.1. We investigated clinical and laboratory three patients with pseudoxanthoma elasticum. All the patients present on dermatological examination yellowish papules, located especially on the neck and axillary area. In case no. 2 the patient presents "cutis laxa" in the axillary area. In case no. 3 the patient presents hyperpigmented spot on right forearm and another maculo-pigmented oval spot located at the base of the left posterior hemithorax. In two cases, the ophthalmologic examination shows angioid streaks. The modifications of elastic fibers (thickened or fragmented) are present in all cases.
authors.affiliation: Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com
authors.forename: Elena
authors.initials: E
authors.lastname: Buteică
authors.forename: Irina
authors.initials: I
authors.lastname: Stoicescu
authors.forename: Fl
authors.initials: F
authors.lastname: Burada
authors.forename: M
authors.initials: M
authors.lastname: Ioana
authors.forename: Eugenia
authors.initials: E
authors.lastname: Roşulescu
authors.forename: Aurelia
authors.initials: A
authors.lastname: Enescu
authors.forename: Elena Carmen
authors.initials: EC
authors.lastname: Niculescu
authors.forename: Sandra Alice
authors.initials: SA
authors.lastname: Buteică
authors.forename: B
authors.initials: B
authors.lastname: Stănoiu
mesh_terms: D000328:Adult; D004547:Elastic Tissue / Q000473:pathology; D005260:Female; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology