A case of pseudoxantoma elasticum

Abstract

Pseudoxanthoma elasticum (PXE) is a rare, genetic,multisystem connective tissue disorder primarily affectingthe skin, eyes, and the cardiovascular system (CVS) [1, 2].PXE is characterized by progressive pathologic calcificationand fragmentation of the elastic tissue in the affected organs.PXEappears to bepresent inall overthe world’s populations.In different reports, the prevalence is given to range between1:25,000 and 1:100,000 [3]. Due to lack of adequate knowl-edge among patients and physicians, delay in diagnosis, andgenetic heterogeneity, the exact prevalence of PXE might beunderestimated. Although autosomal recessive inheritancepatterns have mainly been reported, some families show au-tosomal dominant inheritance and some cases are sporadicwithout family history [4]. In most cases, the skin is the firstorgan system affected. Skin changes are usually detected inthe second or third decade [5].Theaffectedskineventuallybecomeslax,redundant,andinelastic.PXEalsoaffectsocularfundusduetopathologicchangesinBruch’smembrane.Earlyocular findings are pigment irregularities of the temporalfundus called “Peau d’ orange”, angioid streaks due to breaksof Bruch’s membrane and later choroidal neovascularisationand disciform scars [1]. CVS manifestations of PXE includearterial hypertension, peripheral arterial disease, anginapectoris, restrictive cardiomyopathy, mitral valve prolapse,and sudden cardiac death [3, 6].A 61-year-old female patient was referred to our derma-tology outpatient clinic by the ophthalmology clinic becauseof angioid streaks detected on fundus examination. Patientdid not have any subjective complaints. She had had historyof diabetes for 11 years and coronary artery disease for10 years. On dermatologic examination, we detected yellowcobblestone like lesions with lax, redundant, and inelasticskin over the anterior and lateral parts of the neck and axilla(Fig. 1). She had not consulted any dermatologist beforebecause of these lesions.Patient had applied to the ophthalmology outpatient clin-ic because of visual impairment. Best corrected visual acu-itieswere0.2/0.2andintraocularpressureswere15/15mmHgrespectively for the right and left eyes. Anterior segmentswere normal. Fundoscopy revealed bilateral angioid streaksoriginating from the optic disk, radiating outwards especiallyunder the macula as grayish–brownish irregular lines (Figs. 2and 3). Optical coherence tomography examination re-vealed increased reflectivity at the level of retinal pig-ment epithelium–Bruch’smembrane–choroid complex.Biopsy taken from the affected skin showed calcifiedand fragmented elastic fibers in the middle and lowerdermis and confirmed the diagnosis.PXE is a rare connective tissue disorder leading to abroad range of complications including mainly the skin,eyes, and CVS [1]. Clinical findings are due to pathologiccalcificationandfragmentation ofelastic tissue inthe dermisof the skin, Bruch’s membrane of the retina, and intima ofthe vascular arteries [5]. These pathologic changes result incharacteristic skin lesions, visual problems, various CVScomplications, and rare problems such as gastrointestinalsystem bleeding [7].Clinical manifestations of PXE are rarely present at birth.The skin is the first organ affected in most cases and the