Skin symptoms as diagnostic clue for autoinflammatory diseases

Abstract

Autoinflammatory disorders are immune-mediated diseases with increased production of inflammatory cytokines and absence of detectable autoantibodies. They course with recurrent episodes of systemic inflammation and fever is the most common symptom. Cutaneous manifestations are prevalent and important to diagnosis and early treatment of the syndromes. The purpose of this review is to emphasize to dermatologists the skin symptoms present in these syndromes in order to provide their early diagnosis.

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

“…The simultaneous occurrence in this case report is unique as CAPs is not a known immunopathic trigger for EN. Given that other monogenic diseases such as hyperimmunoglobulinemia with periodic fever syndrome have been reported to be associated with EN, this case may point to a previously unreported association of EN with MWS 4, 6…”

“…If left untreated, a progressive sensorineural hearing loss often results in complete deafness by adolescence. Secondary amyloidosis affects 25% of patients and can lead to chronic renal failure 4. Symptoms in CINCA appear immediately after birth with patients experiencing chronic symptoms and periods of exacerbation.…”

“…Patients display a triad of nonpruriginous urticarial/polymorphic rash, severe arthropathy, and central nervous disorders. Mortality is 20% in untreated CINCA 2, 3, 4. The diagnosis can be made using a diagnostic model derived from a study involving 287 CAPS patients [Table 1].…”

“…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…”

“…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…”