A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype

Abstract

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is anautosomal dominant disease caused by mutations located on the type 1 tumornecrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old boyheterozygous for R92Q mutation in TNFRSF1A gene expressing a periodicfever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-likephenotype. However, some of his symptoms such as myalgia and the longduration of fever attacks were not typical for PFAPA. He was treated withmethylprednisolone during the attacks and also responded to colchicine. Thefamily history revealed that his grandfather, mother, and uncle suffered fromsimilar attacks, and interestingly all of them responded to tonsillectomy.PFAPA-like features have already been reported in patients with the R92Qmutation. However, this case is interesting with the response to colchicinetreatment and response to tonsillectomy in his relatives.