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Mild ichthyosis in a 4-year-old boy with multiple sulphatase deficiency

A Loffeld1, R G F Gray, S H Green

  • 1Department of Dermatology, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NL, UK. annette@singhai.freeserve.co.uk

The British Journal of Dermatology
|August 14, 2002
PubMed

Insights

Multiple sulphatase deficiency (MSD) can present with neurological regression and mild ichthyosis. Early detection of steroid sulphatase deficiency is crucial, even with subtle skin symptoms.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Multiple sulphatase deficiency (MSD) is a rare lysosomal storage disorder.
  • It results from a deficiency in multiple sulfatase-activating enzyme, leading to the accumulation of sulfated glycosaminoglycans.

Observation:

  • A 4-year-old boy presented with developmental delay and regression of motor and communication skills.
  • He also exhibited mild ichthyosis, a skin condition characterized by dry, scaly skin.
  • Neurological deterioration suggested metachromatic leukodystrophy, while ichthyosis pointed towards steroid sulphatase deficiency.

Findings:

  • Reduced leucocyte arylsulphatase A and steroid sulphatase activities were detected.
  • The enzyme deficiency was more pronounced for arylsulphatase A than for steroid sulphatase.
  • This pattern of enzyme activity is characteristic of MSD and correlated with the mild ichthyosis.

Implications:

  • This case highlights that even mild ichthyosis can be an indicator of underlying sulfatase deficiencies.
  • Measurement of steroid sulphatase activity should be considered in children with unexplained neurological deterioration.
  • Prompt diagnosis and potential therapeutic interventions for MSD can be facilitated by recognizing these clinical signs.

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