title: Inherited ichthyosis: Syndromic forms.
abstract: Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.
authors.affiliation: Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors.forename: Kozo
authors.initials: K
authors.lastname: Yoneda
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000505:Alopecia / Q000235:genetics; D002806:Chondrodysplasia Punctata / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics; D007057:Ichthyosis / Q000145:classification / Q000235:genetics* / Q000473:pathology; D007634:Keratitis / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics; D008297:Male; D052517:Multiple Sulfatase Deficiency Disease / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics; D056770:Netherton Syndrome / Q000235:genetics; D020795:Photophobia / Q000235:genetics; D012035:Refsum Disease / Q000235:genetics; D016111:Sjogren-Larsson Syndrome / Q000235:genetics; D013577:Syndrome; D054463:Trichothiodystrophy Syndromes / Q000235:genetics
keywords: genetic disease with ichthyosis; ichthyosis; multisystem defects; organ systems other than skin