Association of Pyrin mutations and Autoinflammation with Complex Phenotype Hidradenitis Suppurativa: A Case Control Study.

BACKGROUND

Hidradenitis suppurativa (HS) is a rare, debilitating neutrophilic dermatosis characterised by chronic inflammation of hair follicles. Many inflammatory conditions may accompany HS.

OBJECTIVE

To investigate the association of variants of the MEFV gene with a complex HS phenotype.

METHODS

First, we identified the clinical characteristics of 119 HS patients with a complex phenotype (Hurley stage III disease and/or additional inflammatory symptoms). Then, we searched for MEFV variants among these patients. The odds ratios (OR) for pathogenic MEFV mutations were calculated using data from these HS patients and 191 healthy controls.

RESULTS

The male/female ratio was higher, and the mean age of onset was earlier, in our complex HS group compared with HS patients in general. Five of the HS patients (4.2%) had a diagnosis of familial Mediterranean fever (FMF) with a standardized morbidity ratio of 45 (CI: 16.50-99.84, p<0.001) when compared with the frequency of FMF in the general Turkish population. Of the patients with complex HS, 38% were positive for pathogenic variants of MEFV. The odds ratio for carrying a pathogenic MEFV allele was 2.80 (CI: 1.31-5.97, p<0.001).

CONCLUSIONS

The frequency of MEFV mutations in a group of patients with complex HS was higher than that in healthy controls, suggesting that MEFV mutations may contribute to the pathogenesis of HS. Understanding the role of autoinflammation in HS is of fundamental importance for the development of novel therapies. This article is protected by copyright. All rights reserved.