Prenatal diagnosis of repeated Harlequin ichthyosis – Case report and review of the literature

Introduction: Harlequin ichthyosis is an autosomal recessive hereditary skin disorder and an extremely severe form of congenital ichthyosis. The overall incidence is 1 in 300.000 births and it is associated with significant morbidity. Harlequin ichthyosis is characterized by its remarkable clinical presentation with hyperkeratosis and desquamation of the epidermis, ectropion, eclabium, rudimentary ear appendages, hypoplastic nose and flat profile. The massive skin thickening results in clenched fingers and toes and arthrogryposis. Methods & Results: We report the prenatal diagnosis of a Harlequin fetus based on…