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

Others

• 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