Dermatol. praxi. 2020;14(2):96-98 | DOI: 10.36290/der.2020.017
Gastroenteritis in a female patient with Harlequin ichthyosis
- 1 Dětské kožní oddělení Pediatrické kliniky, LF MU a FN Brno
- 2 Centrum molekulární biologie a genové terapie IHOK FN Brno a LF MU v Brně
- 3 JIP Pediatrické kliniky FN a LF MU Brno
Hereditary ichthyoses are among rare diseases. They are a very heterogeneous group of diseases manifested by dry, rough, and scaly skin. In all forms of ichthyoses, there is an impairment of the skin barrier to a varying degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types of ichthyoses change with the patient's age. Harlequin ichthyosis is one of the most severe types of the disease. The authors describe unexpected complications resulting from an alimentary error that ultimately led to severe hepatopathy which required treatment in a specialized centre.
Keywords: ichthyosis, DNA molecular analysis, hepathopathy.
Published: June 18, 2020 Show citation
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