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Case Reports
. 2012 Jun;148(6):747-52.
doi: 10.1001/archdermatol.2011.3208.

Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis

Kira Minkis  1 , Ivona Aksentijevich, Raphaela Goldbach-Mansky, Cynthia Magro, Rachelle Scott, Jessica G Davis, Niti Sardana, Ronit Herzog
Affiliations
Case Reports

Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis

Kira Minkis et al. Arch Dermatol. 2012 Jun.

Abstract

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, the infant developed a pustular eruption. After extensive evaluation, he was confirmed to be homozygous for a 175-kb genomic deletion on chromosome 2 that includes the IL1RN gene, commonly found in Puerto Ricans. Therapy with anakinra was initiated, with rapid clearance of skin lesions and resolution of systemic inflammation.

Conclusions: Recent identification of DIRA as a disease entity, compounded by the limited number of reported cases, makes early identification difficult. It is critical to consider this entity in the differential diagnosis of infantile pustulosis. Targeted therapy with the recombinant human interleukin 1 receptor antagonist anakinra can be lifesaving if initiated early. A high carrier frequency of the 175-kb DIRA-associated genomic deletion in the Puerto Rican population strongly supports testing infants presenting with unexplained pustulosis in patients from this geographic region.

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Figures

Figure 1
Figure 1
Infantile pustulosis and onychomadesis at initial presentation.
Figure 2
Figure 2
Chest radiograph showing crowding of the ribs due to decreased spine height.
Figure 3
Figure 3
Irregular, widened left radius with increased lucency consistent with a lytic lesion.
Figure 4
Figure 4
A, Diffuse desquamating scaly skin on the back before treatment. B, Clear back skin after anakinra therapy was initiated.
Figure 5
Figure 5
Skin biopsy specimens. At variance with psoriasis is the presence of subcorneal pustulosis (A) associated with superficial acantholysis along with a neutrophilic eccrine hidradenitis (B) (hematoxylineosin, original magnification ×20).
Figure 6
Figure 6
The skin biopsy specimen shows granular cell layer diminution with neutrophilimbued parakeratosis (hematoxylineosin, original magnification ×40).
See this image and copyright information in PMC

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