A Case of Harlequin Ichthyosis / 대한주산의학회잡지

ABSTRACT

Harlequin ichthyosis, which is one of lamellar ichthyosis, is a severe and fatal congenital keratinization disorder with autosomal recessive inheritance. The cause of this disorder is not clear but related to transglutaminase-1 gene mutation. It is characterized by an extremely thickened keratin layer of skin, flattened ears and diffuse platelike scales. Pathologic findings include prominent hyperkeratosis and severe acanthosis. Prenatal sonographic diagnosis has been described, with findings of a persistantly open mouth, echogenic amnionic fluid and fixed flexion of the extremities. We experienced a case of Harlequin infant who showed typical clinical and pathologic findings but non-specific antenatal studies performed in other hospital. We report the case of Harlequin ichthyosis with a brief review of the literature.