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BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes, and blood vessels. Dermatologic manifestations consist of small yellow papules on the nape and sides of the neck and in flexural areas that coalesce into reticulated plaques resembling the cobblestone aspect, and then the skin becomes loose and wrinkled. Histopathologic findings provide characteristic clues such as short, fragmented, clumped, and calcified mid-dermal elastic fibers. CASE PRESENTATION: A 27-year-old Albanian female was referred to the dermatology clinic with skin complaints for approximately 17 years. On physical examination, we observed “cobblestone pattern” lesion located in the anterior, lateral, and posterior aspects of the neck, bilateral axillary, inguinal, antecubital, and popliteal regions, and periumbilical area. A biopsy was performed and the histopathology confirmed the typical changes in the dermis because of ectopic mineralization. The funduscopy revealed the “peau d’orange” aspect, bilateral angioid streaks but no neovascularization. Carotid echography showed minimal intimate thickening with flow acceleration but without significant stenosis of the right common carotid artery (ACC). Different laboratory exams were conducted that resulted within the normal range. CONCLUSION: There is no specific treatment, and therapeutical management is based on prevention, tracking, and follow-ups to increase surveillance of clinical complications through a multidisciplinary team. The dermatologist is usually the first who faces Pseudoxanthoma elasticum manifestations. Therefore, the dermatologist should provide the patient with the best therapeutical and preventive approaches.

The present study aimed to estimate prevalence and risk factors associated with age-related macular degeneration (ARMD) in an Italian population and to analyze differences between urban and rural communities.We conducted a population-based cross-sectional study among elderly residents in Northeast Italy. Participants were divided into urban and rural groups based on whether they lived in the city of Padova or the villages of Teolo and Torreglia, respectively. Fundus photographs were graded according to the International Classification for Age-related Maculopathy.A total of 1162 randomly selected subjects aged 61 years or more were invited to participate in the study. We examined 885 subjects, and 845 were eligible for fundus photograph grading. ARMD was estimated to affect 62.7% of the whole population (drusen 63-124 μm = 48.3%; drusen ≥125 μm = 10.4%; advanced ARMD = 4.1%). Age was confirmed as a risk factor for drusen ≥125 μm and advanced ARMD (Odds Ratio [OR] = 1.47, 95% Confidence Interval [CI] 1.28-1.69 and OR = 1.62, 95% CI 1.28-2.05, respectively, for a 5-year increase in age). The rural group appeared to be at a higher risk of developing large drusen compared to the urban sample (OR = 1.61, 95% CI 1.01-2.63) when adjusting for age and gender.The results confirmed that ARMD affects a high percentage of the elderly population in Italy. This study does not support the hypothesis that living in a rural environment or belonging to a population of the Mediterranean basin may be protective against the intermediate stages of the disease.