Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene

Abstract

Lipoid proteinosis (LP) is a rare form of dermatosis with autosomal recessive inheritance. The present study hypothesized that an extracellular matrix protein 1 (ECM1) gene mutation forms the pathological basis of LP. The association between ECM1 mutation and LP; however, requires further investigation and was thus investigated in the present study. Injury skin tissue samples from patients with LP were collected, along with venous blood samples for genomic DNA extraction. Immunohistochemical staining was performed. Polymerase chain reaction (PCR) was then used to obtain an ECM1 gene fragment, which was sequenced and compared with healthy individuals. Histopathological examination revealed that all included patients fitted the features of LP and PCR amplification of the ECM1 gene in all patients obtained positive results. Patients with LP in the present study exhibited point mutations in the ECM1 gene, including one homozygous mutation (C220G) as previously reported, and one novel homozygous mutation c.508insCTG and two heterozygous mutations (C220G/P.R481X and c507delT/c.l473delT). LP is correlated with ECM1 gene mutation.