Definition

NLRP1-associated auto-inflammation with arthritis and dyskeratosis (NAIAD) is a very rare, genetic auto-inflammatory disease detected in childhood. NAIAD is considered among them periodic fever syndromes / autoinflammatory diseases.

Symptoms

• Fever
• CRP is elevated
• Arthritis (may resemble Juvenile arthritis)
• Skin symptoms with dandruff
  • Follicular hyperkeratosis
• Vitamin A deficiency may occur at the same time
• Painful eyes with photophobia
  • Corneal dyskeratosis
• X-ray examinations can show skeletal changes in epiphyses at the knees

Treatment

• Arthritis can be treated with joint punctures
• The skin can respond well to acitretin
• Systemic inflammation can be treated with IL-1 inhibitors (Anakinra / kineret), Canakinumab / Ilaris)

Literature

• Grandemange S, 2017

• Bindevevssykdommer.no
• Vaskulitt.no