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NOMIDAn extremely rare (100 cases in the world literature) condition characterised by an early onset of persistent multisystem (CNS, skin, joints) inflammation and recurrent fever.
• 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.
Caused by missense mutations in the nucleotide-binding site of NLRP3, which encodes cryopyrin, a protein involved in regulating inflammation and apoptosis.