Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report

Pseudoxanthoma elasticum (PXE) is a rare multisystem disease characterized by progressive calcification and disintegration of elastic fibers. The disorder is attributed to a genetic mutation occurring in the ABCC6 gene, which encodes for the ATP-binding cassette transporter C6. This gene is located...

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Bibliographic Details
Published in:Cureus 2023, Vol.15 (10), p.e47041-e47041
Main Authors: Almutairi, Rawan, Al-Sabah, Humoud
Format: Report
Language:English
Online Access:Get full text
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Summary:Pseudoxanthoma elasticum (PXE) is a rare multisystem disease characterized by progressive calcification and disintegration of elastic fibers. The disorder is attributed to a genetic mutation occurring in the ABCC6 gene, which encodes for the ATP-binding cassette transporter C6. This gene is located on chromosome 16. Patients commonly present with cutaneous, ophthalmic, and cardiovascular manifestations. However, there is a significant degree of phenotypic diversity. The diagnosis is determined by clinical manifestations, histological analysis of the lesions, and genetic analysis. The present study includes a case report of a 12-year-old female patient who presented with a chief complaint of painless, mildly pruritic yellow papules located on her neck for a period of one year. These papules were accompanied by comedones.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.47041