[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)].
The diagnosis of placental sulfatase deficiency was made at the same time in two sisters who were pregnant. This is the first case history reported of two women who were carriers of this abnormality and who were linked by parentage. The inborn error of metabolism was able to be found in its post-natal state in two of the sons of one of the women in the form of retention cutaneous ichthyosis of a sex-linked type.
D000328:Adult; D004967:Estrogens / Q000652:urine; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D011372:Progestins / Q000652:urine; D012737:Sex Factors; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D004967:Estrogens; D011372:Progestins; D013429:Sulfatases
Déficit en sulfatase placentaire et ichthyose récessive liée au sexe. Deux cas observés chez deux soeurs.