X-linked recessive ichthyosis. Reinvestigation of a family first described in 1928.
Recent findings in a family with X-linked recessive ichthyosis are presented. The first description of this family in the literature was given and correctly diagnosed by Csörsz in 1928. His paper can be considered one of the most widely cited proofs of the existence of X-linked ichthyosis. The extended pedigree as well as data of steroid sulfatase and arylsulfatase C determinations presented in this paper verify the diagnosis of the X-linked mode of inheritance of ichthyosis in this family. The biochemical investigations carried out on leukocytes of family members resulted not only in a confirmation of the clinico-genetic diagnosis, but they also helped to establish the heterozygous genotype of a female mentioned previously as an affected person.
D000368:Aged; D001192:Arylsulfatases / Q000097:blood; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000097:blood; D014960:X Chromosome
D013429:Sulfatases; D001192:Arylsulfatases; D043266:Steryl-Sulfatase