Pseudoxanthoma Elasticum: Report of Two Cases

Abstract

Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch’s membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches.

Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report

“…Von Kossa and the Verhoeff-Van Gieson stain for elastic fibers demonstrate the calcification and fragmentation of the fibers, respectively. 7 In our patient, histopathological examination of the skin lesion biopsy showed fragmented eosinophilic elastic fibers in the mid and lower dermis; there was no visual impairment, withsmall, mottled spots diffusely present in the fundus of bilateral eyes. Changes in ECHO were suggestive of Grade 1 LV diastolic dysfunction.…”

Pseudoxanthoma Elasticum: A Case Report

“…The ocular manifestations that have been described are orange skin, angioid striae, choroidal neovascularization, hemorrhages, and scar formation. The "peau d'orange" is the first ocular alteration and consists of small dark spots that give a mottled appearance to the periphery of the temporal zone of the retina [9]. The peau d'orange sign was observed in 96% of patients with skin signs of PXE [6].…”

“…The neovascularization leads to subretinal hemorrhages, exudation, and the formation of fibrovascular scars that result in the loss of visual acuity. Comet lesions are chorioretinal atrophic spots in the retina's periphery, which usually have a tail that points to the optic nerve head and is the pathognomonic feature of the eye in PXE [9]. The cases of ocular involvement must be monitored by periodical fluorescein angiography and ophthalmoscopy [2].…”

“…Laser photocoagulation, transpupillary thermotherapy, photodynamic therapy, macular translocation surgery, and anti-endothelial growth factor improve and delay vision loss. For cosmetic alterations in the skin, surgery has been described to eliminate redundant, lax, or indurated skin and injections of collagen and lipograftings [2], [7], [9]. Pseudoxanthoma elasticum is a candidate for gene therapy [12].…”