Identifying Key Drivers in the Pathogenesis of Martorell Hypertensive Ischaemic Leg Ulcer: A Comparative Analysis with Chronic Venous Leg Ulcer

Acta Derm Venereol. 2024 May 30:104:adv40090. doi: 10.2340/actadv.v104.40090.

Abstract

Martorell hypertensive ischaemic leg ulcer (Martorell HYTILU) is a rare but significant cause of distal leg ulcers. Although hypertension and diabetes are known factors in its development, the precise pathogenesis of Martorell HYTILU remains elusive. To reach a better understanding of Martorell HYTILU, transcriptomic analysis was conducted through RNA sequencing and immunohistochemical comparison of Martorell HYTILU (n = 17) with chronic venous ulcers (n = 4) and healthy skin (n = 4). Gene expression analysis showed a marked activation of immune-related pathways in both Martorell HYTILU and chronic venous ulcers compared with healthy skin. Notably, neutrophil activity was substantially higher in Martorell HYTILU. While pathway analysis revealed a mild downregulation of several immune pathways in Martorell HYTILU compared with chronic venous ulcers, keratinization, cornification, and epidermis development were significantly upregulated in Martorell HYTILU. Additionally, STAC2, a gene encoding for a protein promoting the expression of the calcium channel Cav1.1, was significantly upregulated in Martorell HYTILU and was detected perivascularly in situ (Martorell HYTILU n = 24; chronic venous ulcers n = 9, healthy skin n = 11). The high expression of STAC2 in Martorell HYTILU suggests that increased calcium influx plays an important role in the pathogenesis of the disease. Consequently, calcium channel antagonists could be a promising treatment avenue for Martorell HYTILU.

Publication types

  • Comparative Study

MeSH terms

  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Chronic Disease
  • Female
  • Gene Expression Profiling
  • Humans
  • Hypertension* / complications
  • Hypertension* / genetics
  • Ischemia / genetics
  • Ischemia / immunology
  • Leg Ulcer / etiology
  • Leg Ulcer / immunology
  • Male
  • Middle Aged
  • Skin / immunology
  • Skin / pathology
  • Transcriptome
  • Varicose Ulcer* / immunology