CRYOPYRINOPATHIES (CAPS)
CRYOPYRINOPATHIES (CAPS) ICD-10: E85.0, L50.8
• Are rare systemic autoinflammatory diseases, autosomal dominant.
• Includes familial cold autoinflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID).
• Most have mutations in NLRP3.
• Urticaria-like eruptions, fever (periodic or continuous), conjunctivitis, arthralgia, and elevation of acute phase reactants. Untreated develop progressive hearing loss, progressive vision loss (MWS, NOMID), mental retardation, hydrocephalus, bony overgrowth (NOMID), and amyloidosis.
• Histopathology of lesional skin shows edema, dilatation of superficial capillaries, and perivascular and perieccrine neutrophilic infiltrates.
• Anti-IL-1 therapy is effective.