1045 Efficacy of a topical agent containing a naturally occurring lipid for alleviating drug resistant impetigo

Abstract

Pyoderma gangrenosum (PG) is a neutrophilic dermatosis with chronic painful skin ulcers of unknown etiology. The diagnosis of PG continues to be one of exclusion. There are no specific laboratory tests or absolute diagnostic histopathologic features for PG. Multiple cases of postoperative PG with devastating ulcers and disfiguring scars after elective surgical interventions including esthetic surgeries were reported. PG is a heterogeneous and relatively rare skin disease. However, several amino acid changing (missense) mutations in the PSTPIP1 gene were identified in patients with syndromic PG, characterized by pyogenic sterile arthritis with PG and acne (PAPA syndrome). In this study, we performed whole-exome sequencing of the genomic DNA from 47 year old Hispanic female with postoperative PG. No missense mutation in the coding sequence of the PSTPIP1 gene was detected, which indicates the role of different genes in pathogenesis of PG. We identified over a hundred novel mutations/ polymorphisms which change amino acid sequence of different proteins involved in immune/ inflammation processes and/or are within candidate genes identified in prior SNP array genotyping studies. We found several rare missense mutations in the genes from IL1-signaling pathway (IL1RAP, IL1RL1 and IL18R1) and the granulocyte-macrophage colony-stimulating factor receptor (CSF2RB). This is the first study in PG using whole-exome sequencing. This pilot study is limited to a single exome analysis, but it will form a base for comparison and identification of candidate genes, which might play role in pathogenesis of PG. The early assessment of the genetic predisposition and the risk of developing PPG before not life threatening surgeries carries a great benefit to the patients.