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Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C

Authors

  • S. Hadj-Rabia,

    1. Department of Dermatology, Hôpital Necker – Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France
    2. Université Paris V, Descartes, Paris, France
    3. Centre de Référence National des Maladies Génétiques à Expression Cutanée (MAGEC), Paris, France
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  • D. Oriot,

    1. Department of Pediatrics, University Hospital of Poitiers, Poitiers, France
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  • N. Soufir,

    1. Département de Génétique, Hôpital Bichat Claude Bernard, APHP, Université Paris 7, Paris, France
    2. Unité Inserm U976, Centre de Recherche sur la Peau, Hôpital Saint Louis, Paris, France
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  • H. Dufresne,

    1. Department of Dermatology, Hôpital Necker – Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France
    2. Université Paris V, Descartes, Paris, France
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  • E. Bourrat,

    1. Centre de Référence National des Maladies Génétiques à Expression Cutanée (MAGEC), Paris, France
    2. Service de Dermatologie, Hôpital Saint Louis, 1 Avenue Claude-Vellefaux, Paris, France
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  • S. Mallet,

    1. Service de Dermatologie, Hôpital Nord, 13915 Marseille, France
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  • N. Poulhalon,

    1. Service de Dermatologie, Centre Hospitalier Lyon-Sud, 165 Chemin du Grand Revoyer, 69310 Pierre Bénite, France
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  • E. Ezzedine,

    1. Unité de Dermatologie, CHU de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie Raba Léon, 33076 Bordeaux CEDEX, France
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  • B. Grandchamp,

    1. Département de Génétique, Hôpital Bichat Claude Bernard, APHP, Université Paris 7, Paris, France
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  • A. Taïeb,

    1. Unité de Dermatologie, CHU de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie Raba Léon, 33076 Bordeaux CEDEX, France
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  • B. Catteau,

    1. Service de Dermatologie et de Pédiatrie, CHRU de Lille – Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037 Lille CEDEX, France
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  • A. Sarasin,

    1. Département de Biopathologie, Institut de Cancérologie Gustave Roussy, 114 Rue Edouard, Vaillant 94805, Villejuif, France
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  • C. Bodemer

    1. Department of Dermatology, Hôpital Necker – Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France
    2. Université Paris V, Descartes, Paris, France
    3. Centre de Référence National des Maladies Génétiques à Expression Cutanée (MAGEC), Paris, France
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Errata

This article is corrected by:

  1. Errata: Corrigenda Volume 169, Issue 3, 726, Article first published online: 30 August 2013

  • Funding sources
    None.

  • Conflicts of declared
    None declared.

  • S.H.-R. and D.O. contributed equally to this work.

Smail Hadj-Rabia.
E-mail: smail.hadj@inserm.fr

Summary

Background  Xeroderma pigmentosum type C (XP-C) is a rare, autosomal, recessive condition characterized by the association of various clinical manifestations mostly involving the skin and eyes.

Objectives  To evaluate the clinical manifestations in a homogeneous, genetically characterized cohort of patients with XP-C.

Methods  All patients with XP-C, which was confirmed genetically or by unscheduled DNA synthesis, from the registry of our department and from the French association of patients ‘Les Enfants de la Lune’ were contacted. During a planned consultation, clinical information was collected using a standardized case-record form.

Results  In total, 31 patients were seen. The mean age at diagnosis was 2·95 years; skin symptoms started at a mean age of 1·49 years. Among the patients, 52% had relatively short stature, with a height-for-weight z-score below −1 SD; 62% showed pyramidal syndrome and 45% had photophobia and/or conjunctivitis. Four patients had several pyogenic granulomas. Twenty-four patients (77%) had skin cancer. The mean age of onset of the first skin cancer was 4·76 years (range 2–14·5 years). Basal-cell carcinoma was the most frequent cancer. Melanomas were rare and mostly desmoplastic. Multinodular thyroid was the most frequent internal tumour.

Conclusions  Our data highlight several new aspects of XP-C. Patients with XP-C are at risk of developing pyogenic granulomas, desmoplastic melanomas and multinodular thyroid. Involvement of the central nervous system is frequent, but its mechanism remains unclear. The relatively short stature of the patients needs further investigation in order to be explained. XP-C is not only a cancer-prone disorder but is also a polysystemic disorder.

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