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Arch Dis Child. 1978 October; 53(10): 803–806.
PMCID: PMC1545410

X-linked icthyosis. A sulphatase deficiency.


In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity. In all three children the skin showed the same enzyme deficiency. In the skin of 9 other unrelated (adult) patients with proved X-linked inherited ichthyosis vulgaris, arylsulphatase C activity was deficient. Skin from 5 normal adults and 5 normal children showed arylsulphatase C activity to be present. It is concluded that a sulphatase deficiency is a factor in the causation of ichthyosis of the X-linked inherited type.

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Selected References

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  • Fliegner JR, Schindler I, Brown JB. Low urinary oestriol excretion during pregnancy associated with placental sulphatase deficiency or congenital adrenal hypoplasia. J Obstet Gynaecol Br Commonw. 1972 Sep;79(9):810–815. [PubMed]
  • France JT, Liggins GC. Placental sulfatase deficiency. J Clin Endocrinol Metab. 1969 Jan;29(1):138–141. [PubMed]
  • France JT, Seddon RJ, Liggins GC. A study of pregnancy with low estrogen production due to placental sulfatase deficiency. J Clin Endocrinol Metab. 1973 Jan;36(1):1–9. [PubMed]
  • Koudstaal J. The histochemical demonstration of arylsulphatase in human tumours. Eur J Cancer. 1975 Nov;11(11):809–813. [PubMed]
  • Oakey RE, Cawood ML, Macdonald RR. Biochemical and clinical observations a pregnancy with placental sulphatase and other enzyme deficiencies. Clin Endocrinol (Oxf) 1974 Apr;3(2):131–148. [PubMed]
  • Tabei T, Heinrichs WL. Diagnosis of placental sulfatase deficiency.. Am J Obstet Gynecol. 1976 Feb 15;124(4):409–414. [PubMed]
  • Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J. 1966 Apr 16;1(5493):947–950. [PMC free article] [PubMed]

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