<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>BACKGROUND</h3>
<p>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.</p>
</sec>
<sec><h3>CASE PRESENTATION</h3>
<p>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.</p>
</sec>
<sec><h3>CONCLUSION</h3>
<p>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.</p>
</sec>
</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.

Pseudoxanthoma Elasticum: A Case Report

University Hospital Center “Mother Teresa”

Open Access Macedonian Journal of Medical Sciences

This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License.

{"article-title":"Pseudoxanthoma Elasticum: A Case Report"}

BACKGROUND
Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The...

Pseudoxanthoma Elasticum: A Case Report

Data publikacji: 25 gru 2023

Zakres stron: 11 - 15

Otrzymano: 10 paź 2022

Przyjęty: 26 paź 2022

DOI: https://doi.org/10.3889/oamjms.2023.11091

Słowa kluczowe
Pseudoxanthoma elasticum, Rare disease, Skin manifestations, Ophthalmologic manifestations, Dermatopathology

© 2023 Migena Vargu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License.

Pseudoxanthoma Elasticum: A Case Report

Data publikacji: 25 gru 2023

Zakres stron: 11 - 15

Otrzymano: 10 paź 2022

Przyjęty: 26 paź 2022

DOI: https://doi.org/10.3889/oamjms.2023.11091

Słowa kluczowePseudoxanthoma elasticum, Rare disease, Skin manifestations, Ophthalmologic manifestations, Dermatopathology

© 2023 Migena Vargu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License.

Słowa kluczowe
Pseudoxanthoma elasticum, Rare disease, Skin manifestations, Ophthalmologic manifestations, Dermatopathology