A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN von Pavlovsky, M., Sarig, O., Eskin‐Schwartz, M., Malchin, N., Bochner, R., Mohamad, J., Gat, A., Peled, A., Hafner, A., Sprecher, E.

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Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the author... von Pavlovsky, M., Sarig, O., Eskin‐Schwartz, M., Hafner, A., Sprecher, E.

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Molecular epidemiology of pachyonychia congenita in the Israeli population von Pavlovsky, M., Peled, A., Samuelov, L., Malki, L., Malovitski, K., Assaf, S., Mohamad, J., Meijers, O., Eskin‐Schwartz, M., Sarig, O., Sprecher, E.

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A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN von Pavlovsky, M., Sarig, O., Eskin‐Schwartz, M., Malchin, N., Bochner, R., Mohamad, J., Gat, A., Peled, A., Hafner, A., Sprecher, E.

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A prospective study on clinical response and cell-mediated immunity of pemphigus patients treated with rituximab von Leshem, Y. A., David, M., Hodak, E., Waitman, D. A., Vardy, D., Israeli, M., Eskin-Schwartz, M., Bergman, R., Mimouni, D.

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由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林‐德戈斯(Dowling–Degos)病的表现型 von Pavlovsky, M., Sarig, O., Eskin‐Schwartz, M., Malchin, N., Bochner, R., Mohamad, J., Gat, A., Peled, A., Hafner, A., Sprecher, E.

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LB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma von Cernova, J., Eskin-Schwartz, M., Atzmony, L., Samuelov, L., De Brito, M., Chan, J.P., Aviezer, D., Brener, E., Lederman, R., Mashriki, T., Michel, D., Leibman Barak, S., Braiman, L., Sprecher, E., O’Toole, E.A.

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259 KLF4 variants: a novel cause of palmoplantar keratoderma von Malovitski, K., Sarig, O., Assaf, S., Mohamad, J., Bergson, S., Peled, A., Eskin-Schwartz, M., Gat, A., Pavlovsky, M., Sprecher, E.

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073 Molecular epidemiology of epidermolysis bullosa in a Middle Eastern population von Bergson, S., Daniely, D., Bomze, D., Falik-Zaccai, T., Avitan-Hersh, E., Shalev, S., Schwartz, M Eskin, Sarig, O., Sprecher, E., Samuelov, L.

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259 Coagulation factor XIII-A subunit missense mutation in the pathobiology of autosomal dominant multiple dermatofibromas von Supsrisunjai, C., Chao-kai, H., Michael, M., Duval, C., Lee, J., Yang, H., Huang, H., Chaikul, T., Onoufriadis, A., Steiner, R., Ariens, R., Sarig, O., Sprecher, E., Eskin-Schwartz, M., Samlaska, C., Simpson, M., Calonje, J., Parsons, M., McGrath, J.

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770 An exceptional mutation in ALX4 results in ectodermal defects von Bochner, R., Eskin-Schwartz, M., Sarig, O., Peled, A., Mohamad, J., Malchin, N., Isakov, O., Fainberg, G., Shomron, N., Bertolini, M., Paus, R., Sprecher, E.

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775 A new phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN von Pavlovsky, M., Sarig, O., Eskin-Schwartz, M., Malchin, N., Bochner, R., Peled, A., Mohamad, J., Hilerowicz, Y., Gat, A., Hafner, A., Sprecher, E.

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Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis von Eskin-Schwartz, Marina, Basel-Vanagaite, Lina, David, Michael, Lagovsky, Irina, Ben-Amitai, Dan, Smirin-Yosef, Pola, Atzmony, Lihi, Hodak, Emmilia

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由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林-德戈斯(Dowling-Degos)病的表现型 von Pavlovsky, M., Sarig, O., Eskin-Schwartz, M., Malchin, N., Bochner, R., Mohamad, J., Gat, A., Peled, A., Hafner, A., Sprecher, E.

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769 Filaggrin 2 deficiency causes generalized peeling of the skin von Mohamad, J., Sarig, O., Peled, A., Malchin, N., Bochner, R., Vodo, D., Rabinowitz, T., Pavlovsky, M., Tiaber, S., Fried, M., Eskin-Schwartz, M., Shomron, N., Uitto, J., Koetsier, J., Godsel, L., Green, K., Bergman, R., Sprecher, E.

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378 Somatic mosaicism for the “lethal” GJB2 mutation results in a patterned form of spiny hyperkeratosis without eccrine involvement von Eskin-Schwartz, M., Metzger, Y., Peled, A., Weissglas-Volkov, D., Malchin, N., Gat, A., Vodo, D., Mevorah, B., Shomron, N., Sprecher, E., Sarig, O.

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283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population von Mohamad, J., Samuelov, L., Malchin, N., Tiaber, S., Rabinowitz, T., Bitterman-Deutsch, O., Molho-Pessach, V., Cohen-Barak, E., Bach, G., Garty, B., Bergman, R., Harel, A., Nanda, A., Lestringant, G., McGrath, J., Shalev, S., Shomron, N., Mashiach, J., Eskin-Schwartz, M., Sarig, O., Sprecher, E.

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381 Epidermolytic ichthyosis sine epidermolysis von Eskin-Schwartz, M., Drozhdina, M., Sarig, O., Jackman, T., Isakov, O., Samuelov, L., Malchin, N., Peled, A., Vodo, D., Shomron, N., Ruzicka, T., Koshkin, S., Green, K., Paller, A., Sprecher, E.

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Recurrent flexural pellagroid dermatitis: an unusual variant of irritant contact dermatitis von Segal, Rina, Eskin-Schwartz, Marina, Trattner, Akiva, Feinmesser, Meora, Hodak, Emmilia, Ingber, Arieh, David, Michael

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414 A new form of ectodermal dysplasia caused by mutations in TSPEAR von Peled, A., Sarig, O., Samuelov, L., Bertolini, M., Ziv, L., Weissglas-Volkov, D., Eskin-Schwartz, M., Adase, C., Malchin, N., Bochner, R., Fainberg, G., Sugawara, K., Baniel, A., Tsuruta, D., Luxemburg, C., Adir, N., Goldberg, I., Gallo, R., Shomron, N., Paus, R., Sprecher, E.

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