Cryopyrin‐associated periodic syndrome in Australian children and adults: Epidemiological, clinical and treatment characteristics

Abstract

Although CAPS are rare, patients often endured prolonged periods of systemic inflammation. This is despite almost all MWS patients having family members with similar symptoms and children with NOMID presenting with chronic infantile urticaria associated with multi-system inflammation. Hearing loss in NOMID/MWS was frequent, and reversible in only 50% of cases.

Erythema nodosum in an adolescent patient with cryopyrin‐associated periodic syndrome

“…The various mutations of the  NLRP3  gene lead to a gain of function, causing abnormal IL‐1 activation (Figure 3). Therefore, CAPS patients display dramatic responses to IL‐1 inhibitors such as anakinra, canakinumab, and rilonacept, with resolution of most symptoms and normalization of C‐reactive protein (CRP) 1, 2, 3, 4, 6…”

“…Many of those children suffer from a delayed diagnosis. 1 We report an unusual case of biopsy-proven erythema nodosum occurring in a 16-year-old girl on maintenance canakinumab with CAPS with an overlapping MWS/NOMID phenotype. This may indicate an association between the two conditions which are both underpinned by aberrance of the innate immune system which may lead to earlier CAPS in the future.…”

“…Many of those children suffer from a delayed diagnosis 1. We report an unusual case of biopsy‐proven erythema nodosum occurring in a 16‐year‐old girl on maintenance canakinumab with CAPS with an overlapping MWS/NOMID phenotype.…”

“…The mildest form of CAPS is familial cold auto‐inflammatory syndrome (FCAS) which is characterized by episodes of fever, rash, and joint pain following cold exposure. There is some degree of genotype, phenotype correlation, but overlap syndromes are increasingly reported 1, 2, 3, 4…”

“…There is some degree of genotype, phenotype correlation, but overlap syndromes are increasingly reported. [1][2][3][4] Erythema nodosum is the commonest form of pediatric panniculitis and has been viewed as a cutaneous marker for a number of monogenic auto-inflammatory diseases such as Familial Blau Syndrome. 4 However, it has not previously been reported to be associated with CAPS.…”