NS is characterized by a combination of three clinical manifestations:
- scaly redness of the skin (congenital ichtyosiform erythroderma)
- hair shaft abnormality; bamboo hair (tricorrhexis invaginata)
- constant atopic manifestations
The disease is often severe and can be life threatening in newborns and infants. In newborns there is typically widespread redness of the skin, risk of loss of fluids and electrolytes as well as risk of severe infections. Skin lesions itch causing irritability and sleeplessness. Systemic and lung infections, persistent and chronic diarrhea, failure to thrive, growth retardation and short stature are common complications.
The skin condition usually improves with age and adults may present localized patches of redness and scaling, but it is still a severe disease with major impact on the quality of life for patients of all ages. The course of the disease is usually fluctuating.