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Deficiency of cerebroside-sulfatase — Clinical Guidelines

Overview

Deficiency of cerebroside-sulfatase, often associated with steroid sulfatase deficiency, leads to X-linked ichthyosis and can be part of contiguous gene deletion syndromes. It is characterized by low estriol excretion and decreased sulfatase activity in various tissues 1 2.

Diagnosis

Low estriol excretion in maternal serum screening 1 2.

Negative DHEAS loading test and increased DHEAS in amniotic fluid 2.

Decreased sulfatase activity in placenta, fibroblasts, erythrocytes, lymphocytes, or leukocytes 2.

Development of ichthyosis in male infants around 2-3 months of age 2.

Molecular analysis for enzyme deficiency and potential contiguous gene deletions 1.

Management

Supportive care for skin manifestations, including emollients and keratolytics 2.

Genetic counseling for families due to X-linked inheritance 1.

Monitoring for contiguous gene deletion syndromes in sporadic cases 1.

Special Populations

Pregnancy: Increased risk of contiguous gene deletion syndromes in sporadic cases (8.3% risk) 1.

Pediatrics: Early onset of ichthyosis requiring dermatological intervention 2.

Key Recommendations

Screen for low estriol levels in maternal serum to identify potential cases prenatally (Evidence: Moderate 1 2).

Conduct molecular analysis to confirm enzyme deficiency and assess for contiguous gene deletions in sporadic cases (Evidence: Moderate 1).

Provide genetic counseling to families due to the X-linked inheritance pattern (Evidence: Expert opinion 1).

References

1 Langlois S, Armstrong L, Gall K, Hulait G, Livingston J, Nelson T et al.. Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols. Prenatal diagnosis 2009. link 2 Bradshaw KD, Carr BR. Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. Obstetrical & gynecological survey 1986. link 3 Dibbelt L, Kuss E. Human placental steryl-sulfatase. Enzyme purification, production of antisera, and immunoblotting reactions with normal and sulfatase-deficient placentas. Biological chemistry Hoppe-Seyler 1986. link 4 Horwitz AL, Warshawsky L, King J, Burns G. Rapid degradation of steroid sulfatase in multiple sulfatase deficiency. Biochemical and biophysical research communications 1986. link90007-0) 5 Steckel F, Hasilik A, von Figura K. Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency. European journal of biochemistry 1985. link

Deficiency of cerebroside-sulfatase