A rare case of Harlequin Ichthyosis born in Zabol hospital, Iran

Harlequin ichthyosis is a fatal and extremely rare disorder; it is an inborn error of epidermal keratinisation with autosomal recessive inheritance. In most cases, neonates die within a few days after birth. We describe a male term infant born from a 32 years old woman with odd looking, clown like face. The skin was composed of rigid fixed plaques separated by deep red fissures; ears and eyes were not developed. Despite vigorous attempts at resuscitation he died within a few minutes. As ichthyosis is autosomal recessive, genetic counseling and prenatal screening is important.