Background/Purpose: Autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high titer autoantibodies or antigen specific T cells, and derive from genetic variants of the innate immune system.    We previously reported a case series of a new autoinflammatory disease associated with nucleotide oligomerization domain (NOD2) gene mutations.  Herein, I report a characteristic phenotype as an addition to further define this disease entity.  

Methods: Six patients with pedal swelling and other autoinflammatory phenotypes were enrolled between January 2009 and April 2012. These patients were tested for NOD2 gene mutations.

Results: All 6 patients were non-Jewish Caucasians, with 5 female, 1 male. The mean age at disease diagnosis was 49 years (range 29-63) and disease duration was 3.9 years (range 0.4-10) (Table 1). These patients usually presented with weight loss, self limiting fever, dermatitis, and inflammatory polyarthritis/polyarthralgia. Apart from previously reported characteristic spongiotic dermatitis, all patients also shared a prominent clinical feature: ankle/foot swelling/pain (Figure1) which was primarily unilateral. There was no convincing evidence of inflammatory bowel disease, sarcoidosis, or Blau’s syndrome. All patients carried the NOD2 gene mutations, with R702W/IVS8⁺¹⁵⁸ in 4 and 2 having rare variants R703C and T189/wild type.

Conclusion: The current cohort has affirmed and extended that dermatitis, pedal swelling and positive NOD2 mutations may characterize this entity.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/pedal-swelling-as-a-characteristic-phenotype-of-the-new-category-of-autoinflammatory-disease-associated-with-nod2-gene-mutations/