EVIDENCE AGAINST KERATIN GENE-MUTATIONS IN A FAMILY WITH ICHTHYOSIS HYSTRIX CURTH-MACKLIN

Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and ultrastructurally by di sruption of the keratin intermediate filament network of suprabasal ke ratinocytes. We have used linkage analysis to test whether a keratin g ene mutation might underlie this disease. This analysis excluded the k eratin gene loci as the sites for the disease-causing mutation in one affected kindred.