Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Abstract

BACKGROUND:

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

OBJECTIVES:

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

METHODS:

Firstly, we identified the clinical characteristics of 119 patients with HS 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 (ORs) for pathogenic MEFV mutations were calculated using data from these patients with HS 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 patients with HS in general. Five of the patients with HS (4·2%) had a diagnosis of familial Mediterranean fever (FMF) with a standardized morbidity ratio of 45 [95% confidence interval (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 OR for carrying a pathogenic MEFV allele was 2·80 (95% CI 1·31-5·97, P < 0·001).

CONCLUSIONS:

The frequency of MEFV mutations in the 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.

• Authors: S Vural, M Gündoğdu, E Gökpınar İli, C D Durmaz, A Vural, L Steinmüller-Magin, A Kleinhempel, L M Holdt, T Ruzicka, K A Giehl, H I Ruhi, A Boyvat
• Journal: The British journal of dermatology (Br J Dermatol) Vol. 180 Issue 6 Pg. 1459-1467 (06 2019) ISSN: 1365-2133 [Electronic] England
• PMID: 30488432 (Publication Type: Journal Article)
• Copyright: © 2018 British Association of Dermatologists.

Chemical References

• Adaptor Proteins, Signal Transducing
• Cytoskeletal Proteins
• MEFV protein, human
• PSTPIP1 protein, human
• Pyrin

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Adult
• Alleles
• Case-Control Studies
• Cytoskeletal Proteins (genetics)
• DNA Mutational Analysis
• Familial Mediterranean Fever (genetics, immunology)
• Female
• Genetic Predisposition to Disease
• Hidradenitis Suppurativa (genetics, immunology, pathology)
• Humans
• Male
• Mutation
• Pyrin (genetics)
• Skin (immunology, pathology)
• Young Adult