Elastosis perforans serpiginosa: causes and associated disorders

Abstract

Background: Elastosis perforans serpiginosa (EPS) is an uncommon cutaneous disorder classified under perforating diseases (PD); a group of dermatoses with transepidermal extrusion of collagen or elastic tissue. Three EPS subtypes have been reported that differ according to aetiology, associated diseases, and histopathological features. Herein, we report a systematic review of the literature, as well as a case of a 41-year-old woman with Wilson disease treated with penicillamine (PCM), who developed EPS after 11 years of drug intake.

Objectives: To analyse and characterise EPS subtypes based on an evaluation of potential different histological patterns.

Materials & methods: A systematic literature search in Pubmed was performed to identify articles describing EPS.

Results: A peculiar histological pattern was identified in EPS PCM-related patients, either in affected or unaffected skin samples. Using specific elastic fibre stains (Verhoeff-van Gieson, Weigert, and Orcein), fibres appeared with an irregular surface with thorn-like protrusion, probably due to weaker fibre cross-links, making them unable to re-expand after contraction along their long axis. Interestingly, similar histological patterns have also been reported in elastic tissues of vessel walls of the lungs and upper respiratory tract, joints, visceral adventitia, and kidney.

Conclusions: A distinctive histological pattern of PCM-related EPS is observed in affected and normal-appearing skin, as well as extracutaneous elastic tissue, suggesting serious potential widespread drug-induced systemic elastolytic damage.

Keywords: D-penicillamine; Wilson disease; elastosis perforans serpiginosa; lumpy-bumpy; perforating disease; systemic elastolytic damage.