Pseudoxanthoma elasticum.
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.
Buteică
Elena
E
Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com
Stoicescu
Irina
I
Burada
Fl
F
Ioana
M
M
Roşulescu
Eugenia
E
Enescu
Aurelia
A
Niculescu
Elena Carmen
EC
Buteică
Sandra Alice
SA
Stănoiu
B
B
D000328:Adult; D004547:Elastic Tissue / Q000473:pathology; D005260:Female; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology