Pediatr. praxi 2019; 20(4): 248-250 | DOI: 10.36290/ped.2019.076

Gastroenteritis in a female patient with Harlequin ichthyosis

MUDr. Blanka Pinková¹, Mgr. Romana Borská², doc. RNDr. Lenka Fajkusová², MUDr. Dana Dostálková³, MUDr. Hana Bučková, Ph.D.¹

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

Received: April 17, 2018; Accepted: June 15, 2018; Prepublished online: June 15, 2018; Published: September 1, 2019  Show citation