Modern concepts of pathogenesis of ichthyosis


  • Світлана Володимирівна Дмитренко Vinnitsa National Medical University named after NI Pirogov 46 Pirogov str., Vinnytsya, Ukraine, 21018, Ukraine



ichthyosis, keratinization, gene mutations, therapy, pathogenetic model


The modern concepts of ichthyosis are rather ambiguous and need more precise definition. The modern conception of pathogenesis of ichthysosis is offered and considered in this article.

Aim. An aim is to analyze received data of our researches about molecular disturbances of keratin on the background of ichthyosis and the current data on the pathogenesis of disease.

Materials and methods. An analysis of the results of research in 70 patients with ichthyosis by the methods of the flow cytometry, immunohistochemistry and by immunologic methods is presented in an article.

Results. Authors revealed molecular, immunologic and immunohistochemical changes that realizes the disturbance of keratinization on the background of this disease. The model of pathogenesis of the various manifestations of gene mutations that causes ichthyosis is proposed and it can be taken into account when elaborating the new directions of therapy.

Conclusions. Gene mutations that cause ichthyosis realizes on the background of disturbance of the cell cycle causing cornification and disturb the local and general immune reactions that summarily lead to the clinical presentations of disease. 

Author Biography

Світлана Володимирівна Дмитренко, Vinnitsa National Medical University named after NI Pirogov 46 Pirogov str., Vinnytsya, Ukraine, 21018

Candidate of Medical Sciences, Associate Professor

The department of skin and venereal diseases


Oji, V., Tadini, G., Akiyama, M., Blanchet Bardon, C., Bodemer, C., Bourrat, E. et. al. (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009. Journal of the American Academy of Dermatology, 63 (4), 607–641. doi: 10.1016/j.jaad.2009.11.020

Hernández-Martin, A., Aranegui, B., Martin-Santiago, A., & Garcia-Doval, I. (2013). A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. Journal of the American Academy of Dermatology, 69 (4), 544–549.e8. doi: 10.1016/j.jaad.2013.05.017

Zhernosek, V. F., Lameko, E. V., Pochkaylo, A. S. (2014). Nasledstvenniy yhtyoz: Classification, Clinical manifestations, Diagnosis, Treatment: Textbook. method. posobye. Minsk: BelMAPO, 52.

Oji, V., Traupe, H. (2009). Ichthyosis: clinical manifestations and practical treatment options. American Journal of Clinical Dermatology, 10 (6), 351–364. doi: 10.2165/11311070-000000000-00000

Chamcheu, J. C., Wood, G. S., Siddiqui, I. A., Syed, D. N., Adhami, V. M., Teng, J. M., Mukhtar, H. (2012). Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise. Experimental Dermatology, 21 (7), 481–489. doi: 10.1111/j.1600-0625.2012.01534.x

Brown, S. J., McLean, W. H. (2012). One remarkable molecule: filaggrin. Journal of Investigative Dermatology, 132 (3), 751–762. doi: 10.1038/jid.2011.393

Rice, R. H., Bradshaw, K. M., Durbin-Johnson, B. P., Rocke, D. M., Eigenheer, R. A., Phinney, B. S. et. al. (2013). Distinguishing Ichthyoses by Protein Profiling. PLoS ONE, 8 (10), e75355. doi: 10.1371/journal.pone.0075355

Richard, G. (2004). Molecular genetics of the ichthyoses. Am. J. Med. Genet., 131C (1), 32–44. doi: 10.1002/ajmg.c.30032

Sandilands, A., Sutherland, C., Irvine, A. D., McLean, W. H. I. (2009). Filaggrin in the frontline: role in skin barrier function and disease. Journal of Cell Science, 122 (9), 1285–1294. doi: 10.1242/jcs.033969

Smith, F. J. D., Irvine, A. D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L. E., Zhao, Y. et. al. (2006). Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nature Genetics, 38 (3), 337–342. doi: 10.1038/ng1743

Tsvetkova, G. M. et. al. (2003). Patomorfolohyya boleznej kozhy: guidance for doctors. Moscow: Medicine, 496.

Rebrov, O. (2002). Statistical analysis of medical data. Application software package Statistica. Moscow: the media sphere, 312.

Nakaz vid 08.05.2009 № 312 Pro zatverdzhennja klinichnyh protokoliv nadannja medychnoi' dopomogy hvorym na dermatovenerologichni zahvorjuvannja. Available at: