Perinatal management of harlequin ichthyosis: a case report and literature review.

摘要: Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion truncation mutations keratinocyte lipid transporter, HI characterized by diffuse epidermal hyperkeratinization defective desquamation. At birth, the phenotype striking with thick hyperkeratotic plate-like scales deep dermal fissures, ectropion eclabium, among other findings. Over first months life, covering shed, revealing diffusely erythematous, scaly epidermis, which persists for remainder patient's life. Although infants have historically succumbed in perinatal period related their profound compromise, prognosis has vastly improved over past 20 years. Here, we report case treated acitretin, focusing on multi-faceted management disease inpatient setting. A review literature during also presented.