Schnitzler Syndrome in a 27-Year-Old Man: Diagnostic and Therapeutic Dilemma in Adult Auto-Inflammatory Syndromes A Case Report and Literature Review

Figures & data

Figure 1 The trunk (A and B) and palm (C) of the hand covered in urticarial rash observed in a Schnitzler syndrome patient during treatment with tocilizumab.

Figure 2 Whole-body bone scintigraphy (^99mTc- methylene diphosphonate) in a Schnitzler syndrome (SchS) patient. Arrows indicate an increased radiotracer uptake.

Table 1 Comparison of Main Features of Schnitzler Syndrome (SchS), an Adult-Onset Still’s Disease (AOSD) and Cryopyrin-Associated Periodic Syndrome (CAPS)^32–36

	SchS	AOSD	CAPS
Age	>50	15–26 and 36–46	Childhood
Fever	Yes	Yes	Yes
Sore throat	No	Yes	No
Skin rush	Urticaria	Salmon pink rush	Urticaria
Skin biopsy	Neutrophilic inflammation	Neutrophilic inflammation	Neutrophilic inflammation
Joints and bone	Bone pain	Arthralgia, arthritis	Bone pain, arthralgia, transient arthritis
CRP	↑↑↑*	↑↑↑*	↑↑↑*
Ferritin	↑*	↑↑↑*	↑*
Leucocytosis with neutrophilia	Typical >80% neutrophils	Typical >80% neutrophils	Might be present during flares
Alkaline phosphatase	↑↑*	No data	No data
Bone scintigraphy	Increased bone metabolism	No data	No data
Paraproteinemia	Always present	Absent	Absent
GCS	No response	May respond	No response
DMARDS	No response	May respond	No response
IL-1 inhibitor	Effective (90%)	Effective	Effective
IL-6 inhibitor	May be effective	Effective	May be effective
Complications	Lymphoproliferation AA amyloidosis	HLH Joint damage Rare cases AA amyloidosis	AA amyloidosis The hearing deficiency
Genetics	Polygenic Mosaics described	Polygenic	Monogenic (AD inheritance, NLRP-3 related)

Abbreviations: *↑↑↑, highly elevated; ↑↑*, elevated; ↑*, might be elevated; CRP, C-reactive protein; GCS, glucocorticoids; DMARDs, disease-modifying antirheumatic drugs; IL, interleukin; HLH, hemophagocytic lymphohistiocytosis; AD, autosomal dominant; NLRP-3, nucleotide-binding oligomerization domain-like receptor with a pyrin domain 3.

Gerfaud-Valentin M, Maucort-Boulch D, Hot A, et al. Adult-onset still disease: manifestations, treatment, outcome, and prognostic factors in 57 patients. Medicine. 2014;93(2):91–99. doi:10.1097/MD.000000000000002124646465

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