Advances in treatment for lipoid proteinosis (Urbach–Wiethe disease): a case report and systematic review

Abstract

Lipoid proteinosis, also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the deposition of PAS-positive, hyaline-like material on the skin, mucosae, and internal organs. Here, we present a case report of a 48-year-old man with lipoid proteinosis who exhibited significant improvement after oral acitretin therapy. To address the lack of large case-control studies on lipoid proteinosis treatment, we performed a systematic review of the literature following the PRISMA 2020 criteria. The search was conducted in PubMed, Web of Science, Cochrane, and Scopus databases from inception until June 2023. To assess the methodological quality of case reports and case series, we used the critical appraisal tool JBI. We included 25 studies that met eligibility criteria. An overall sample of 44 patients with a histopathologically confirmed diagnosis was analyzed. Treatment ranged from systemic therapies (acitretin, etretinate, dimethyl sulfoxide, corticosteroids, D-penicillamine) to surgical or laser procedures. Regarding methodological quality, the main discrepancies arose in the reporting of participant characteristics and treatment interventions. Apparently, low-dose oral acitretin could have potential in managing lipoid proteinosis, exhibiting fewer side effects compared to other therapeutic agents. Further research is needed to establish more comprehensive and evidence-based treatment guidelines.