Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS)

Abstract

Discussion: Small vessel vasculitis and panniculitis have not been reported in TRAPS so far. The cases underline the importance of TNFα regulation in inflammatory processes including vasculitis. Genetically determined causes of fever may account for some cases of WCD.

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Figure 1.

 Skin biopsy demonstrating panniculitis (arrows) and small vessel vasculitis (arrow heads) in our patient. The insertions show magnifications of the marked areas.

Figure 2.

 DNA sequence electropherogram demonstrating the TNFRSF 1A gene mutation. Single nucleotide substitutions (missense mutations) in different exons result in the substitution of single amino acids in the transcribed p55 TNF receptor. Polymerase chain reaction (PCR) of exons 2–5 of the TNFRSF 1A gene was performed twice using primers as described previously.³ PCR products were purified and sequenced in both directions demonstrating the R92Q mutation in patient 1 and the T50M mutation in patient 2.