IL18-containing 5-gene signature distinguishes histologically identical dermatomyositis and lupus erythematosus skin lesions

JCI Insight. 2020 Aug 20;5(16):e139558. doi: 10.1172/jci.insight.139558.

Abstract

Skin lesions in dermatomyositis (DM) are common, are frequently refractory, and have prognostic significance. Histologically, DM lesions appear similar to cutaneous lupus erythematosus (CLE) lesions and frequently cannot be differentiated. We thus compared the transcriptional profile of DM biopsies with CLE lesions to identify unique features. Type I IFN signaling, including IFN-κ upregulation, was a common pathway in both DM and CLE; however, CLE also exhibited other inflammatory pathways. Notably, DM lesions could be distinguished from CLE by a 5-gene biomarker panel that included IL18 upregulation. Using single-cell RNA-sequencing, we further identified keratinocytes as the main source of increased IL-18 in DM skin. This study identifies a potentially novel molecular signature, with significant clinical implications for differentiating DM from CLE lesions, and highlights the potential role for IL-18 in the pathophysiology of DM skin disease.

Keywords: Autoimmune diseases; Autoimmunity; Cytokines; Dermatology; Skin.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Cohort Studies
  • Cornified Envelope Proline-Rich Proteins / genetics
  • Dermatomyositis / genetics*
  • Dermatomyositis / metabolism
  • Dermatomyositis / pathology
  • Female
  • Humans
  • Interferons / genetics
  • Interferons / metabolism
  • Interleukin-18 / genetics*
  • Keratins, Type II / genetics
  • Lupus Erythematosus, Cutaneous / genetics*
  • Lupus Erythematosus, Cutaneous / metabolism
  • Lupus Erythematosus, Cutaneous / pathology
  • Male
  • Middle Aged
  • Myxovirus Resistance Proteins / metabolism
  • Transcriptome
  • Tropomyosin / genetics

Substances

  • Cornified Envelope Proline-Rich Proteins
  • IL18 protein, human
  • Interleukin-18
  • KRT80 protein, human
  • Keratins, Type II
  • LCE1B protein, human
  • LCE2D protein, human
  • MX1 protein, human
  • Myxovirus Resistance Proteins
  • TPM4 protein, human
  • Tropomyosin
  • Interferons