High-frequency (20–50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions

Authors

  • M. Guérin-Moreau,

    1. Department of Dermatology, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    2. PXE Consultation Centre, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
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  • G. Leftheriotis,

    1. PXE Consultation Centre, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    2. Department of Vascular Medicine, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    3. Integrated Neurovascular and Mitochondrial Biology, INSERM 1083/CNRS 6214, Angers School of Medicine, University of Nantes Angers Le Mans, Angers, France
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  • Y. Le Corre,

    1. Department of Dermatology, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    2. PXE Consultation Centre, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    3. Integrated Neurovascular and Mitochondrial Biology, INSERM 1083/CNRS 6214, Angers School of Medicine, University of Nantes Angers Le Mans, Angers, France
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  • M. Etienne,

    1. Department of Dermatology, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
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  • R. Amode,

    1. Department of Dermatology, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
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  • J.F. Hamel,

    1. Clinical Research Centre, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
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  • A. Croué,

    1. PXE Consultation Centre, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    2. Department of Pathology, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
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  • O. Le Saux,

    1. John A. Burns School of Medicine, University of Hawai'i, Honolulu, HI, U.S.A
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  • L. Machet,

    1. INSERM U930, François-Rabelais University, Tours, France
    2. Department of Dermatology, Tours University Hospital, Tours, France
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  • L. Martin

    Corresponding author
    1. Department of Dermatology, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    2. PXE Consultation Centre, Angers Hospital, University of Nantes Angers Le Mans, Angers, France
    3. Integrated Neurovascular and Mitochondrial Biology, INSERM 1083/CNRS 6214, Angers School of Medicine, University of Nantes Angers Le Mans, Angers, France
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  • Funding sources This work was supported by the French Society of Dermatology, Angers University Hospital and the French patients support group PXE France. Financial support was provided to O.L.S. by the American Heart Association (11GRNT5840005) and the National Institutes of Health (RO1HL108249).
  • Conflicts of interest None declared.

Summary

Background

In most patients pseudoxanthoma elasticum (PXE) manifests with yellowish cutaneous papules and dermal elastorrhexis on skin biopsy. In a small number of cases there are no skin manifestations on clinical examination, and establishing a diagnosis of PXE in such patients is challenging. High-frequency ultrasonography (HFUS) may be of use in predicting skin areas that would yield a biopsy specimen positive for elastorrhexis.

Objectives

To describe characteristics of clinically visible PXE skin using HFUS, and to evaluate its relevance for diagnosis.

Methods

HFUS was performed in a cohort of patients with PXE and in controls at a referral centre. HFUS images of PXE skin were compared with those of other conditions. Five operators blind-scored multiple HFUS images of photoprotected or photoexposed skin from patients with PXE and controls. The diagnostic indices (sensitivity, specificity, likelihood ratios, interobserver agreement) were calculated.

Results

The HFUS changes considered as diagnostic for PXE were primarily oval homogeneous hypoechogenic areas in the mid-dermis. The size of these areas closely matched the extent of the histological changes. The sensitivity and specificity of the diagnostic items and interobserver agreement were high, particularly in photoprotected skin. Dermal hypoechogenicity in PXE could be related to high hydration of connective tissue due to the presence of glycosaminoglycans despite elastic fibre mineralization.

Conclusions

HFUS provides suggestive images of PXE skin lesions. HFUS should now be studied to determine whether it is a potentially valuable technique for the noninvasive identification of elastorrhexis in patients with PXE in whom skin involvement is clinically minimal or absent.

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