X-Linked Ichthyosis Differential Diagnoses

Updated: Jun 09, 2022
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Multiple sulfatase deficiency is a rare inborn autosomal recessive disorder that combines the clinical features of metachromatic leukodystrophy, mucopolysaccharidosis, and X-linked ichthyosis (XLI). [33] This phenotype is a combination of the clinical features found in diseases resulting from a deficiency of the individual sulfatases and the X-linked recessive form of chondrodysplasia punctata. [34]

Differential Diagnoses