Schnitzler's Disease as an Important Differential Diagnosis of Chronic Recurrent Multifocal Osteomyelitis: A Case Report

Abstract

Introduction. At first sight, chronic recurrent multifocal osteomyelitis (CRMO) and Schnitzler's disease are diagnoses of exclusion and can be similar in their manifestation. Methods. In this paper we present the reevaluation of the 13-year-old diagnosis of chronic recurrent osteomyelitis of a 58-year-old man with chronic ostealgia, night sweat, and pruritic urticarial lesions on the extremities and trunk. For further examination, we performed blood analysis, bone and skin biopsies, CT scans, and magnetic resonance imaging. Results. Laboratory findings showed increased inflammation parameters. Magnetic resonance imaging (MRI) revealed a diffuse bone marrow infiltration. A bone and skin biopsy showed a sclerotic bone marrow involvement and a superficial dermal and perivascular infiltrate of neutrophils. Based on these findings, the diagnosis of Schnitzler's disease was made. Conclusion. Here, we want to present Schnitzler's disease as an important differential diagnosis to CRMO in adults presenting with signs suggestive of CRMO.

Schnitzler's syndrome: lessons from 281 cases

“…endothelial cells, and IL-6 causes a rise in acute phase reactants, and platelet release from the bone marrow [ 157 ]. In 10 SchS cases, elevated serum concentrations of IL-6 were reported [ 9 , 38 , 85 , 86 , 96 , 120 , 127 , 146 ].…”

“…In view of the phenotypical similarities to CAPS, and the pivotal role of IL-1β overproduction in both CAPS and SchS, the involvement of the inflammasome in the latter is likely. Analysis of NLRP3 mutations was negative in 16 of 21 cases [ 45 , 93 , 106 , 112 , 120 , 164 ] (Fox, Kabashima, Relas: p.c.) In two cases, a V198M variant was detected, but both had unaffected family members carrying this variant [ 88 , 112 ].…”

“…To date, 281 cases have been reported, with a male–female ratio of 1.5 [2–146]. (Kabashima, Schiff, Frerichs, Van Hoof, Relas, Björk, Fox, Croot: personal communications (p.c.))…”

“…IL‐1 blocking therapies are the most effective ones. Both the IL‐Ra anakinra [3, 11, 12, 14, 16, 18, 27, 29, 33, 35, 39–41, 45, 47, 50, 55, 58, 59, 63, 68–71, 76, 77, 83, 92–94, 104, 106, 113, 115, 119–121, 127, 129, 131–133, 135, 136, 140, 153] (Van Hoof, Relas, Björk, Fox, Croot: p.c., and personal observations), which blocks IL‐1α and IL‐1β, and the anti‐IL‐1β antibody canakinumab [12, 41, 136, 154] (Fox: p.c. ), which only inhibits IL‐1β, induce a complete remission in more than 90% of cases.…”

Chronic nonbacterial osteomyelitis from a tertiary care referral center

“…The mean age of disease onset is 51 years though it has been rarely reported in adolescence. [ 11 ] Absence of urticarial rash made this diagnosis unlikely in our patients. Majeed syndrome and deficiency of the interleukin-1 receptor antagonist are the two monogenic syndromic forms of CRMO beginning in first 2 years of life.…”