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Pseudoxanthoma Elasticum: A Case Report

Authors :
Migena Vargu
Petrit Vargu
Sabina Dedej
Eriselda Kurushi
Alketa Tandili
Stela Ceca
Majlinda Çafka
Ilirjana Zekja
Ermira Vasili
Source :
Open Access Macedonian Journal of Medical Sciences. 11:11-15
Publication Year :
2023
Publisher :
Scientific Foundation SPIROSKI, 2023.

Abstract

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.

Subjects

Subjects :
General Medicine

Details

ISSN :
18579655
Volume :
11
Database :
OpenAIRE
Journal :
Open Access Macedonian Journal of Medical Sciences
Accession number :
edsair.doi...........786d5dc732c63095c4e6f1e09f769c37
Full Text :
https://doi.org/10.3889/oamjms.2023.11091