Autosomal Recessive Congenital Icthyosis with Cataract – A Case Report from Pakistan

The ichthyoses are a diverse group of disorders with variable clinical presentations. There syndromic and non-syndromic forms multiple associated features. association autosomal recessive congenital icthyosis (ARCI) cataract is rare phenomenon no such case has been reported in recent literature. We hereby report the 5-year-old female patient, product consanguineous marriage, who presented to pediatric department Dr. Ruth K.M Pfau Civil Hospital Karachi, Pakistan, complaint rough skin scaling peeling over entire body since birth due icthyosis. Shefurther developed complaints reduced vision which later was diagnosed as cataract. Her previous two siblings had similar illness they expired. Widespread defining feature ichthyosis specifically when it comes ARCI manifests at can progress any spectra illness. A multidisciplinary approach required for management patient. J MEDICINE 2023; 24(2): 155-157