Genetics of Sjogren-Larsson Syndrome Differential Diagnoses

Updated: Mar 06, 2023
  • Author: William B Rizzo, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

During the neonatal period and early infancy, differentials include the following:

  • Nonbullous congenital ichthyosiform erythroderma

  • Lamellar ichthyosis

  • X-linked ichthyosis (steroid sulfatase deficiency)

After neurologic symptoms have evolved, other diagnoses to be considered include the following:

  • Infantile form of Gaucher disease (type II)

  • Multiple sulfatase deficiency

  • X-chromosome contiguous microdeletions of the steroid sulfatase gene and flanking genes

  • Neutral lipid storage disease (Dorfman-Chanarin syndrome)

  • Refsum disease

  • Other Sjögren-Larsson syndrome (SLS)-like disorders or pseudo-SLS (of unknown etiology)

  • Diagnosis of cerebral palsy with a secondary diagnosis of ichthyosis (This diagnosis was frequently applied before SLS was recognized)