Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5.

S Leclerc-Mercier^{1

2}, F Dufernez³, S Fraitag², J Coulombe¹, A Dompmartin⁴, M Barreau⁴, D Bozon⁵, A Lamazière^{6

7}, J-P Bonnefont⁸, E Khalifa⁸, C Bodemer^{1

9}, S Hadj-Rabia^{1

9}

¹ Department of Dermatology, Centre National de Référence des Maladies Génétiques à Expression Cutanée (MAGEC), Hôpital Universitaire Necker-Enfants Malades, APHP, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.
² Department of Pathology, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France.
³ Department of Genetics, Laboratoire Commun de Biologie et Génétique Moléculaires (LCBGM) and Department of Mass Spectrometry, ERL INSERM U1057, UMR 7203, Hôpital Saint-Antoine, APHP, Paris, France.
⁴ Department of Dermatology, CHU Caen, Caen, France.
⁵ Centre de Biologie et de Pathologie Est, CHU Lyon, Lyon, France.
⁶ Department of Metabolomics and Peptidomics (PM2), Hôpital Saint-Antoine, APHP, Paris, France.
⁷ Laboratory of Mass Spectrometry, UPMC, Paris VI, ERL Inserm U1157, UMR 7203 LBM, Hôpital Saint-Antoine, APHP, Paris, France.
⁸ Department of Genetics, Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France.
⁹ Unité INSERM U1163, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France.

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