Deficiency of interleukin 1 receptor antagonist (DIRA) is a newly described autosomal recessive autoinflammatory disease in which absence of interleukin 1 (IL-1) receptor antagonist allows unopposed IL-1 activation, resulting in life-threatening systemic inflammation with prominent skin and bone involvement. We present a case of chronic cutaneous pustulosis treated with anakinra, a recombinant IL-1 receptor antagonist, resulting in rapid and significant clinical improvement.
In May 2010, a 15-year-old Puerto Rican male adolescent with chronic cutaneous pustulosis, was referred to the University of Puerto Rico dermatology clinic. He was born at term, weighing 7 lb (3.15 kg) with congenital hip dysplasia. At 2 weeks of age, he developed a cutaneous eruption on his neck and antecubitals that evolved into erythematous pustular plaques covering most of his body surface area. An older half-sister developed a similar cutaneous eruption starting at 2 weeks of age and died at age 15 years. At 6 months of age, our patient was hospitalized for right femur osteomyelitis and was noted to have lytic lesions on the vault and right femur. At age 12 years, he was diagnosed as having pustular psoriasis; treatment with daily acitretin, 10 mg orally, was initiated and extended for 2 years but it was not efficacious. He was diagnosed as having dilated cardiomyopathy (treated with digoxin) and corneal lacerations and ulcers at the same age.
Brau-Javier CN, Gonzales-Chavez J, Toro JR. Chronic Cutaneous Pustulosis Due to a 175-kb Deletion on Chromosome 2q13Excellent Response to Anakinra. Arch Dermatol. 2012;148(3):301-304. doi:10.1001/archdermatol.2011.2857