Successful treatment with anakinra in generalized spiculated porokeratosis and severe hidradenitis suppurativa in a patient with MVK and MEFV mutations

Abstract

Autoinflammatory diseases of the skin are a complex group of disorders. In recent years, hidradenitis suppurativa (HS) and porokeratosis have been classified as autoinflammatory keratinization diseases.1,2

Porokeratosis is a clinically and genetically heterogeneous keratinization and inflammatory disorder of the skin. Molecular studies have shown an association with mutations in mevalonate pathway genes, such as MVK, PMVK, MVD and FDPS, in patients with porokeratosis.3

We present a late-onset generalized atypical spiculated porokeratosis accompanied by the simultaneous onset of Hurley Stage III HS, another autoinflammatory disease, in a patient with germline heterozygous MVK and MEFV ­mutations.