Search Results - "Severino‐Freire, M."

Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome by Carmignac, V., Salomon, G., Severino‐Freire, M., Duffourd, Y., Chevarin, M., Vabres, P., Mazereeuw‐Hautier, J.

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Cutaneous mastocytosis in adults with a serum tryptase level < 20 ng mL–1: why we should investigate further by Jendoubi, F., Shourick, J., Negretto, M., Laurent, C., Apoil, P.A., Evrard, S., Mansat‐De Mas, V., Severino‐Freire, M., Mailhol, C., Degboé, Y., Dubreuil, P., Hermine, O., Paul, C., Bulai Livideanu, C.

“…Dear Editor, Mastocytosis is a rare disease characterized by the accumulation/proliferation of abnormal mast cells (MCs).1 Mastocytosis is categorized into…”
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Reconstructed human epidermis for in vitro studies on atopic dermatitis: A review by Huet, F., Severino-Freire, M., Chéret, J., Gouin, O., Praneuf, J., Pierre, O., Misery, L., Le Gall-Ianotto, C.

“…Atopic dermatitis (AD) is a chronic inflammatory skin disease causing a strong impact on quality of life. Its pathophysiology is the result of complex…”
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Efficacy of tumor necrosis factor‐alpha inhibitors in the treatment of isotretinoin‐induced acne fulminans by Nasseh, J., Brun, A., Theret, V., Ramspacher, J., Severino‐Freire, M., Coustou, D., Bulai Livideanu, C., Tauber, M., Marguery, M. C., Paul, C.

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KLICK syndrome: an unusual phenotype by Onnis, G., Bourrat, E., Jonca, N., Dreyfus, I., Severino‐Freire, M., Pichery, M., Fischer, J., Mazereeuw‐Hautier, J.

“…Erythrokeratoderma refers to a group of rareinherited disorders with both clinical and genetic hetero-geneities. Lesions usually start in infancy and are…”
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Image Gallery: The vulva: an atypical localization of mastocytosis in adulthood by Bulai Livideanu, C., Severino‐Freire, M., Jendoubi, F., Tournier, E., Commont, T., Hermine, O., Paul, C.

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Langerhans cell histiocytosis associated with chronic myelomonocytic leukaemia both harbouring the same BRAF V600E mutation: efficacy of vemurafenib by Konstantinou, M.P., Lucas, P., Uthurriague, C., Severino‐Freire, M., Spenatto, N., Gaudin, C., Lamant, L., Tournier, E., Bulai‐Livideanu, C., Meyer, N., Paul, C.

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Analysis of non‐responders to dupilumab in clinical practice: a cohort study by Linder, C., Shourick, J., Touhouche, A.T, Giordano‐Labadie, F., Severino‐Freire, M., Borjesson, C., Richet, C., Marguery, M.C., Tauber, M., Paul, C.

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Acquired perforating dermatosis associated with sorafenib therapy by Severino-Freire, M., Sibaud, V., Tournier, E., Pauwels, C., Christol, C., Lamant, L., Hautier-Mazeereuw, J., Peron, J.-M., Paul, C., Bulai Livideanu, C.

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French national protocol for the management of congenital ichthyosis by Severino-Freire, M., Granier Tournier, C., Chiaverini, C., Audouze, A., Morice-Picard, F., Texier, H., Dreyfus, I., Bing-Lecointe, A.-C., Mallet, S., Bodemer, C., Fischer, J., Jonca, N., Mazereeuw-Hautier, J.

“…Congenital ichthyoses (CI) comprise a heterogeneous group of monogenic genetic skin diseases characterized by diffuse scaling, often associated with skin…”
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Biological treatments for paediatric psoriasis : a retrospective observational study on biological drug survival in daily practice in childhood psoriasis by Phan, C., Beauchet, A., Burztejn, A.‐C., Severino‐Freire, M., Barbarot, S., Girard, C., Lasek, A., Reguiai, Z., Hadj‐Rabia, S., Abasq, C., Brenaut, E., Droitcourt, C., Perrussel, M., Mallet, S., Phan, A., Lacour, J.‐P., Khemis, A., Bourrat, E., Chaby, G., Deborde, R., Plantin, P., Maruani, A., Piram, M., Maccari, F., Fougerousse, A.‐C., Kupfer‐Bessaguet, I., Balguérie, X., Barthelemy, H., Martin, L., Quiles‐Tsimaratos, N., Mery‐Brossard, L., Pallure, V., Lons‐Danic, D., Bouilly‐Auvray, D., Beylot‐Barry, M., Puzenat, E., Aubin, F., Mahé, E.

“…Background Three biotherapies – etanercept, adalimumab and ustekinumab – are licensed in childhood psoriasis. The few data available on their efficacy and…”
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Ichthyosis prematurity syndrome: Two new cases by Severino-Freire, M, Bing Lecointe, A-C, Bourrat, E, Pichery, M, Jonca, N, Chiaverini, C, Mazereeuw-Hautier, J

“…Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation…”
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Off-label drugs in childhood psoriasis by Mahé, E, Corgibet, F, Maccari, F, Hadj-Rabia, S, Phan, C, Ruer-Mulard, M, Boralévi, F, Barbarot, S, Bursztejn, A-C, Lahfa, M, Severino-Freire, M, Aubin, F, Barthélémy, H, Amy de la Bretêque, M, Beauchet, A

“…Psoriasis affects 0.5% of children in Europe, with moderate to severe clinical forms in 15-35% of cases warranting the use of systemic treatments. Few…”
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Drug eruption with clomifene citrate in a bodybuilder by Severino-Freire, M, Lamant, L, Bagheri, H, Mazereeuw-Hautier, J, Paul, C

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297 Identification of mutations in SDR9C7 in three patients with autosomal recessive congenital ichthyosis by Mazereeuw-Hautier, J., Severino-Freire, M., Texier, H., Vincent, M., Aubert, H., Morice-Picard, F., Jonca, N.

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Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome by Albluwi, Shatha, Maza, Aude, Severino-Freire, Maella, Tournier, Emilie, Mazereeuw-Hautier, Juliette

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113 PNPLA1 defects in patients with ichthyosis and KO mice unveil PNPLA1 irreplaceable function in epidermal omega–acylceramide synthesis and skin permeability barrier by Pichery, M., Huchenq, A., Sandhoff, R., Roy, M., Severino-Freire, M., Zaafouri, S., Opalka, L., Serre, G., Mazereeuw-Hautier, J., Jonca, N.

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Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis by Mazereeuw-Hautier, Juliette, Severino-Freire, Maella, Gaston, Véronique, Texier, Hélène, Vincent, Marie, Aubert, Hélène, Morice-Picard, Fanny, Jonca, Nathalie

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Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg by Godillot, Clothilde, Severino-Freire, Maella, Michaud, Vincent, Boralevi, Franck, Labrèze, Christine, Guigonis, Vincent, Onnis, Giuliana, Morice-Picard, Fanny, Mazereeuw-Hautier, Juliette

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Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis by Severino-Freire, Maella, Jonca, Nathalie, Pichery, Melanie, Tournier, Emilie, Chassaing, Nicolas, Mazereeuw-Hautier, Juliette

“…Epidermolytic ichthyosis (EI) is a rare disorder of keratinization belonging to the group of keratinopathic ichthyosis. EI is an autosomal dominant disease due…”
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