Sjögren-Larsson Syndrome - Key Clinical Features

Skin abnormalities

  • ichthyosiform erythroderma at birth usually without collodoin membrane
  • cobblestone-like hyperkeratotic papules an the great flexures and neck
  • severe pruritus


  • progressing spasticity leading to di- or tetraplegia with walking impairment
  • mental retardation with developmental delay and speech defects
  • seizures
  • glistening dots in the retina
  • short stature