A Case of Harlequin Ichthyosis / 대한주산의학회잡지

ABSTRACT

Harlequin ichthyosis is a most severe form of lamellar ichthyosis, which is one of congenital ichthyosis, and X- linked inherited, very rare, fatal congenital dermatologic disorder. At second trimaster in utero, skin deformity is occurred. We experienced a case of Harlequin baby in female neonate who showed typical skin appearance at birth. The nose and were flattened. The chemosis and severe ectropion obscured the orbit, and her lips were everted. The all joints were flexed due to inelastic skin, and hands and feets were fixed and ischemic. Diagnosis was established by clinical features and histopathological studies. A brief review of literature was made.