Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

Authors

  • Flore Zufferey,

    1. Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France
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  • Smaïl Hadj-Rabia,

    1. Service de Dermatologie, Centre de référence des Maladies Génétiques à Expression Cutanée, INSERMU781, Université Paris Descartes, Hôpital Necker-EnfantsMalades, Paris, France
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  • Annachiara De Sandre-Giovannoli,

    1. Département de Génétique Médicale, Laboratoire de Génétique Moléculaire, Hôpital La Timone Enfants et INSERM U910, Faculté de Médecine, Marseille, France
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  • Jean-Louis Dufier,

    1. Service d'ophtalmologie, Université Paris Descartes, Hôpital Necker-Enfants Malades, Paris, France
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  • Bruno Leheup,

    1. Service de Médecine Infantile et Génétique Clinique, Pôle Enfants, CHU de Nancy et Université de Lorraine, Vandoeuvre les Nancy, France
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  • Cyril Schweitze,

    1. Service de Médecine Infantile et Génétique Clinique, Pôle Enfants, CHU de Nancy et Université de Lorraine, Vandoeuvre les Nancy, France
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  • Christine Bodemer,

    1. Service de Dermatologie, Centre de référence des Maladies Génétiques à Expression Cutanée, INSERMU781, Université Paris Descartes, Hôpital Necker-EnfantsMalades, Paris, France
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  • Valérie Cormier-Daire,

    1. Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France
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  • Martine Le Merrer MD, PhD

    Corresponding author
    • Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France
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  • The authors have no conflict of interest to declare.

Correspondence to:

Martine Le Merrer, MD, PhD, Département de Génétique, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

E-mail: martine.lemerrer@inserm.fr

Abstract

We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro-osteolysis, diffuse keloid-like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth. Premaxillary and maxillary retraction with pseudo-prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. Linear growth is increased and intellectual functions are preserved. Skin retractions and joint contractures progressively developed during adolescence. Death occurred in the second decade in one of the patient due to restrictive respiratory insufficiency and cachexia. LMNA and ZMPSTE24 sequencing were normal. The molecular basis of the disorder remains unknown. © 2013 Wiley Periodicals, Inc.

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