Abstract

GONZALEZ, MI et al. Pseudoxanthoma elasticum: A case report. Rev. argent. dermatol. [online]. 2017, vol.98, n.2. ISSN 1851-300X.

Pseudoxanthoma elasticum, also known as Groënblad-Strandberg syndrome, is a rare multi-system heritable disorder characterized by ectopic mineralization of connective tissues with clinical manifestations in the skin, eyes and vascular system. It is caused by mutations in the ABCC6 gene located in chromosome 16p13.1, which is expressed primarily in the liver and the kidney, and at very low level in tissues clinically affected. Over 600 distinct mutations have been identified so far, pR1141X and del23-29 are the most common ones. To date, there is no specific treatment for pseudoxanthoma elasticum, therefore early diagnosis, multidisciplinary control and lifestyle adjustments are very important to reduce its morbidity and mortality. A case of pseudoxanthoma elasticum in a patient with cutaneous and ocular involvement is presented along with a review of the available literature.

Keywords : pseudoxanthoma elasticum; Gröenblad-Strandberg syndrome; angiod streaks; ectopic mineralization; ABCC6 gene.