Hereditary Ichthyoses
Authors:
B. Pinková 1; H. Bučková 1; R. Borská 2; L. Fajkusová 2
Authors place of work:
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 the journal:
Čes-slov Derm, 91, 2016, No. 1, p. 3-12
Category:
Reviews (Continuing Medical Education)
Summary
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
Zdroje
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Štítky
Dermatology & STDs Paediatric dermatology & STDsČlánok vyšiel v časopise
Czech-Slovak Dermatology
2016 Číslo 1
Najčítanejšie v tomto čísle
- Hereditary Ichthyoses
- Congenital Dermatofibrosarcoma Protuberans
- Psoriasis, Psoriatic Arthritis and Tophaceous Gout