NOMID

An extremely rare (100 cases in the world literature) condition characterised by an early onset of persistent multisystem (CNS, skin, joints) inflammation and recurrent fever.
Clinical findings
• Meningeal irritation—headaches, seizures, vomiting.
• Hearing and vision loss due to nerve damage and inflammation.
• Persistent rash—typically of neonatal onset.
• Joint inflammation, swelling, cartilaginous overgrowth (resulting in characteristically prominent knees), joint contractures.
• Other findings include short stature with short lower legs and forearms, characteristic facies (prominent forehead, protruding eyes), and amyloidosis leading to kidney damage.
Molecular pathology
Caused by missense mutations in the nucleotide-binding site of NLRP3, which encodes cryopyrin, a protein involved in regulating inflammation and apoptosis.