Inherited Ichthyosis: Syndromic Forms

The document discussed various rare syndromic forms of inherited ichthyosis, which involve abnormalities in organs beyond the skin. Notable syndromes included Netherton syndrome, Sjögren–Larsson syndrome, Conradi–Hünermann–Happle syndrome, Dorfman–Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome. Understanding the molecular genetics and pathomechanisms of these syndromes was emphasized as crucial for developing effective therapies and providing beneficial genetic counseling, including prenatal diagnosis.