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Case Report: Pseudoxanthoma elasticum.

Catarina Lucas¹, João Aranha², Isabel da Rocha³

¹Family Health Unit, Baesuris Family Health Unit, Castro Marim, Faro, 8950-219, Portugal.

|August 4, 2020

Summary

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting elastic fibers. Early diagnosis and monitoring of cardiovascular and retinal complications are crucial for managing this incurable condition.

Keywords:

ABCC6 gene Pseudoxanthoma elasticum hypertension retina angioid streaks

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Area of Science:

Genetics and rare diseases
Dermatology
Ophthalmology
Cardiology

Background:

Pseudoxanthoma elasticum (PXE) is a rare inherited disorder.
Characterized by progressive mineralization and fragmentation of elastic fibers in the skin, retina, and cardiovascular system.
Diagnosis relies on clinical signs, histology, and genetic testing.

Observation:

This case report details a 12-year-old child.
The child presented with painless, mildly itchy yellow papules on the neck over one year.
These lesions are indicative of early-stage PXE skin manifestations.

Findings:

The patient's presentation aligns with the typical initial dermatological signs of PXE.
The case highlights the importance of recognizing subtle skin changes in pediatric patients.
Prompt diagnosis is essential for initiating timely management strategies.

Implications:

PXE is currently incurable, emphasizing the need for proactive management.
Regular monitoring for cardiovascular and retinal complications is vital for a favorable prognosis.
This case underscores the significance of early detection in improving patient outcomes for rare genetic disorders.