Pseudoxanthoma Elasticum: A Case Report
نویسندگان
چکیده
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 protein leads to ectopic mineralization that most apparent elastic tissues skin, eyes, and blood vessels. Dermatologic manifestations consist small yellow papules on nape sides neck flexural areas coalesce into reticulated plaques resembling cobblestone aspect, then skin becomes loose wrinkled. Histopathologic findings provide characteristic clues such as short, fragmented, clumped, calcified mid-dermal fibers. CASE PRESENTATION: A 27-year-old Albanian female was referred dermatology clinic complaints for approximately 17 years. On physical examination, we observed “cobblestone pattern” lesion located anterior, lateral, posterior aspects neck, bilateral axillary, inguinal, antecubital, popliteal regions, periumbilical area. biopsy performed histopathology confirmed typical changes dermis because mineralization. funduscopy revealed “peau d’orange” angioid streaks but no neovascularization. Carotid echography showed minimal intimate thickening flow acceleration without significant stenosis right common carotid artery (ACC). Different laboratory exams were conducted resulted within normal range. CONCLUSION: There specific treatment, therapeutical management based prevention, tracking, follow-ups increase surveillance clinical complications through multidisciplinary team. dermatologist usually first who faces manifestations. Therefore, should patient best preventive approaches.
منابع مشابه
Pseudoxanthoma Elasticum: A Report of Three Cases in a Family
Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.
متن کاملPseudoxanthoma Elasticum Papillary Dermal Elastolysis: A Case Report
PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It is clinically similar to Pseudoxanthoma Elasticum. The authors report a case of a 64-year-old woman presenting asymptomatic, yellowish, non-fo...
متن کاملPseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is a 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. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...
متن کاملPseudoxanthoma elasticum: report of two cases*
Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of e...
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ژورنال
عنوان ژورنال: Open Access Macedonian Journal of Medical Sciences
سال: 2023
ISSN: ['1857-9655']
DOI: https://doi.org/10.3889/oamjms.2023.11091