Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.
A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.
D000293:Adolescent; D000328:Adult; D001789:Blood Group Antigens; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012730:Sex Chromosomes; D012867:Skin / Q000473:pathology; D014960:X Chromosome
D001789:Blood Group Antigens