Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis
K Minkis, I Aksentijevich… - Archives of …, 2012 - jamanetwork.com
Background Deficiency of interleukin 1 receptor antagonist (DIRA) is a recently described
autoinflammatory syndrome of skin and bone caused by recessive mutations in the gene
encoding the interleukin 1 receptor antagonist. Few studies have been published about this
debilitating condition. Early identification is critical for targeted lifesaving intervention.
Observations A male infant, born to nonconsanguineous Puerto Rican parents, was referred
for management of a pustular eruption diagnosed as pustular psoriasis. At 2 months of age …
autoinflammatory syndrome of skin and bone caused by recessive mutations in the gene
encoding the interleukin 1 receptor antagonist. Few studies have been published about this
debilitating condition. Early identification is critical for targeted lifesaving intervention.
Observations A male infant, born to nonconsanguineous Puerto Rican parents, was referred
for management of a pustular eruption diagnosed as pustular psoriasis. At 2 months of age …
