Congenital ichthyosis is a group of inherited skin disorders of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. Recently, a progress has been made in identification of pathogenic mechanism causing the disease. Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance.
We report a case of HI misdiagnosed as bilateral cleft lip on prenatal sonography in an IVF twin pregnancy which remained undiagnosed until delivery at 34 weeks of gestation due to premature rupture of membranes. At delivery the neonate was found to have severe generalized ichthyosis involving the head, trunk and limbs. The typical features were a flat and hypoplasia of nose; a large mouth, widely gaping open; ectropion; abnormal fixed position of the hands. We report here with a brief review of the literature about autosomal recessive congenital ichthyosis and emphasize the sonography features and a novel genetic mutation of HI.