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Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene

Authors

  • Hala Mégarbané,

    1. Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
    2. Service de Dermatologie, Hôpital Saint Georges, Beirut, Lebanon
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  • Céline Cluzeau,

    1. INSERM U781 et Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Paris, France
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  • Christine Bodemer,

    1. INSERM U781 et Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Paris, France
    2. Département de Dermatologie Pédiatrique, Hôpital Necker Enfants Malades, Paris, France
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  • Sylvie Fraïtag,

    1. Department of Pathology, Groupe Hospitalier Necker Enfants-Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France
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  • Myrna Chababi-Atallah,

    1. Service d'Anatomo-Pathologie, Institut National de Pathologie, Beirut, Lebanon
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  • André Mégarbané,

    Corresponding author
    1. Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
    • Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph 42, rue de Grenelle, 75007 Paris, France.
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  • Asma Smahi

    1. INSERM U781 et Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Paris, France
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  • How to cite this article: Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A. 2008. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. Am J Med Genet Part A 146A:2657–2662.

  • Hala Mégarbané and Céline Cluzeau contributed equally to this work.

Abstract

We report on an 18-year-old woman, born to first-cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unusual clinical manifestations such as an absence of breasts, a rudimentary extranumerary areola and nipple on the left side, and marked palmo-plantar hyperkeratosis. Light microscopy of skin biopsies showed orthokeratotic hyperkeratosis and absence of sweat glands. A novel homozygous mutation (IVS9 + 1G > A) in the EDAR gene was identified. This mutation results in a total absence of EDAR transcripts and consequently of the EDAR protein, which likely results in abolition of all ectodysplasin-mediated NF-κB signaling. This is the first complete loss-of-function mutation in the EDAR gene reported to date, which may explain the unusual presentation of HED in this patient, enlarging the clinical spectrum linked to the dysfunction of the ectodysplasin mediated NF-κB signaling. © 2008 Wiley-Liss, Inc.

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