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Hereditary Ichthyoses


Authors: B. Pinková 1;  H. Bučková 1;  R. Borská 2;  L. Fajkusová 2
Authors‘ workplace: Dětské kožní oddělení Pediatrické kliniky, LF MU a FN Brno primář MUDr. Hana Bučková, Ph. D. 1;  Centrum molekulární biologie a genové terapie IHOK FN Brno a LF MU v Brně vedoucí pracoviště doc. RNDr. Lenka Fajkusová, Ph. D. 2
Published in: Čes-slov Derm, 91, 2016, No. 1, p. 3-12
Category: Reviews (Continuing Medical Education)

Overview

Hereditary ichthyoses form a very heterogeneous group of disorders manifested by dry, rough and scaly skin. An impairment of cutaneous barrier, to various degrees, is present in all forms of ichthyoses. Hereditary ichthyoses are caused by different gene mutations. Clinical manifestations of individual types of ichthyosis change during patient’s life. The authors are currently engaged in the diagnosis and classification of congenital ichthyosis based on molecular diagnostics and they emphasize the importance of comprehensive genetic counseling and genetic prevention. Patients should be followed up in specialized centers. Recently developing patient organization represents a great benefit for the patients.

Key words:
ichthyosis – diagnostics – DNA molecular analysis


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