گزارشی نادر از بیماری "Harlequin ichthyosis" متولد شده در زایشگاه بیمارستان امیرالمومنین(ع) زابل

Abstract Background: 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. Case presentation: 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. Conclusion: As ichthyosis is autosomal recessive, genetic counseling and prenatal screening is important. Keywords: Harlequin ichthyosis, Eclabiom, Ectropion