A psoriasis patient develops a fever with widespread pustulation over erythematous skin covering >70% BSA within 24 hours of stopping a systemic corticosteroid. He is haemodynamically stable. Which gene mutation is most commonly associated with juvenile-onset or recurrent generalised pustular psoriasis (GPP)?
- A IL23A
- B IL36RN ✓
- C CARD14
- D TNF
Explanation
Mutations in IL36RN (encoding IL-36 receptor antagonist) are the most commonly identified genetic cause of generalised pustular psoriasis (GPP), particularly in recurrent and juvenile-onset cases. IL-36RN mutations lead to unopposed IL-36 signalling, causing massive neutrophil recruitment and epidermal pustulation. This is distinct from plaque psoriasis genetics. Spesolimab, an anti-IL-36 receptor monoclonal antibody, has been approved specifically for GPP flares, directly targeting this pathway. CARD14 mutations are associated with plaque psoriasis and pityriasis rubra pilaris.
Reference: Neena Khanna Illustrated Synopsis of Dermatology & STD, 6th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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