title: Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis.
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.
  
  
  METHODS
  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.
authors.affiliation: Department of Dermatology, Weill Medical College of Cornell University, 505 E 70th St, New York, NY 10065, USA.
authors.forename: Kira
authors.initials: K
authors.lastname: Minkis
authors.forename: Ivona
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: Raphaela
authors.initials: R
authors.lastname: Goldbach-Mansky
authors.forename: Cynthia
authors.initials: C
authors.lastname: Magro
authors.forename: Rachelle
authors.initials: R
authors.lastname: Scott
authors.forename: Jessica G
authors.initials: JG
authors.lastname: Davis
authors.forename: Niti
authors.initials: N
authors.lastname: Sardana
authors.forename: Ronit
authors.initials: R
authors.lastname: Herzog
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000473:pathology; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics / Q000627:therapeutic use*; D008297:Male; D011565:Psoriasis / Q000175:diagnosis* / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D016896:Treatment Outcome
chemical_list: D018501:Antirheumatic Agents; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein