title: Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal.
abstract: Ichthyosis vulgaris (IV) is an autosomal dominant, scaling disorder in which keratohyaline granules and filaggrin are reduced in or absent from the epidermis of affected individuals. Morphologic and biochemical markers of epidermal differentiation were studied in keratinocytes cultured from clinically unaffected skin of patients with IV, from clinically unaffected skin of an obligate gene carrier, and from normal skin of unaffected family members and an adult volunteer. Cultured keratinocytes from affected subjects formed thickened layers of scaly cells that failed to react with monoclonal antibody to filaggrin. In contrast, normal cells contained many large, immunoreactive granules. Electron microscopy confirmed the absence of keratohyaline granules in affected cells and the presence of large keratohyaline granules in normal cells. Immunoblot analysis of keratinocyte extracts from subjects with ichthyosis showed that profilaggrin was absent, but no differences in keratins were detected between affected and control cells. For all parameters, findings in cells of the clinically unaffected obligate gene carrier were intermediate between those from affected patients and controls. We conclude that keratinocytes cultured from patients with IV maintain structural and biochemical phenotypic characteristics of the disease in vitro.
mesh_terms: D001706:Biopsy; D002478:Cells, Cultured; D004817:Epidermis / Q000473:pathology / Q000503:physiopathology*; D000091344:Filaggrin Proteins; D006651:Histocytochemistry; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007120:Immunochemistry; D007158:Immunologic Techniques; D007633:Keratins; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007633:Keratins