neonatal pustular rash arthritis IL1RN DIRA IL36RN DITRA
The answer is DIRA: Deficiency of Interleukin-1 Receptor Antagonist.
Caused by mutations in IL1RN
Begins in the neonatal period, often in the first weeks of life
Produces a severe pustular rash resembling pustular psoriasis
Associated with painful sterile inflammation of bones and joints, including periostitis and osteomyelitis
This is distinct from DITRA, which involves IL36RN and primarily causes generalized pustular psoriasis. The neonatal onset plus bone/joint pain points to DIRA.
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