X-linked recessive ichthyosis in three sisters: evidence for homozygosity.
A family with ichthyosis, severely affecting both men and women, is reported. The clinical, histological and genetic data are strongly suggestive of X-linked recessive ichthyosis. Assay of steroid sulphatase in cultured skin fibroblasts from two ichthyotic female patients revealed an absence of this enzyme and thus confirmed this diagnosis. To our knowledge, this is the first report of proven X-linked recessive ichthyosis in women.
D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012867:Skin / Q000201:enzymology / Q000473:pathology; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000378:metabolism; D014960:X Chromosome
D013429:Sulfatases; D043266:Steryl-Sulfatase