# Pseudoxanthoma elasticum, a difficult diagnostic in patient with dark skin

**Authors:** Carla Fassanaro, Morgane Stichelbout, Marc Lambert, Frédéric Dezoteux, Delphine Staumont‐Sallé, Marie Boileau

PMC · DOI: 10.1002/ski2.385 · Skin Health and Disease · 2024-04-11

## TL;DR

This paper discusses the challenges of diagnosing pseudoxanthoma elasticum in patients with dark skin and presents a case study.

## Contribution

The paper highlights the diagnostic difficulty of pseudoxanthoma elasticum in dark-skinned patients and provides a practical case study.

## Key findings

- Pseudoxanthoma elasticum presents with yellow or skin-colored papules in specific body areas.
- Diagnosis is particularly challenging in patients with dark skin.
- Referral to specialists is necessary to detect complications.

## Abstract

Pseudoxanthoma elasticum is a genetic metabolic disease which leads to ectopic mineralisation in the elastic tissues of the skin, eyes and blood vessels. The clinical signs are small yellow or normal skin‐coloured papules on the nape of the neck and lateral sides of the neck, as well as in flexural areas and periumbilical region. The skin becomes loose and wrinkled. The diagnosis on dark skin is particularly difficult. The dermatologist evokes the diagnosis and refers the patient to specialists in order to detect complications. We propose here a practical case study.

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease which leads to ectopic mineralisation of the elastic tissues in the skin, eyes and blood vessels. The clinical signs are small yellow or normal skin‐coloured papules on the nape and lateral sides of the neck, as well as in flexural areas and periumbilical region. The skin becomes loose and wrinkled. The diagnosis on dark skin is particularly difficult. The dermatologist evokes the diagnosis and refers the patient to specialists in order to detect complications. We propose here a practical case study.

## Linked entities

- **Diseases:** Pseudoxanthoma elasticum (MONDO:0009925)

## Full-text entities

- **Diseases:** Pseudoxanthoma elasticum (MESH:D011561), metabolic disease (MESH:D008659), papules (MESH:D000169)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

15 references — full list in the complete paper: https://tomesphere.com/paper/PMC11297427/full.md

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Source: https://tomesphere.com/paper/PMC11297427