{
  "abstract": "Background: Hailey‐Hailey disease (HHD) is a rare autosomal dominant blistering disorder caused by mutations in the ATP2C1 gene, which impair keratinocyte adhesion through disrupted calcium signaling. While traditionally considered a structural defect, recent studies suggest that Th2‐mediated inflammation may exacerbate disease pathology. Interleukin (IL)‐4 and IL‐13, central mediators of type 2 inflammation, have been implicated in barrier dysfunction in other dermatoses, yet their role in HHD remains poorly defined.\n\nMethods: This retrospective study employed immunohistochemistry to assess IL‐4 and IL‐13 expression in lesional skin from patients with HHD (n = 7) compared to age‐, sex‐, and site‐matched atopic dermatitis (AD) controls (n = 6) and healthy control samples (n = 4).\n\nResults: IL‐4 expression was significantly elevated in the epidermis of HHD compared to negative control tissue (mean 3966 cells/mm2 vs. 808 cells/mm2, p = 0.0219), whereas IL‐13 expression was markedly increased in the dermis (mean 5288 cells/mm2 vs. 629 cells/mm2, p < 0.0001), relative to healthy controls. No statistically significant difference was observed between AD and HHD samples.\n\nConclusions: These findings highlight a potential role for IL‐4 and IL‐13 in the pathogenesis of HHD, supporting the therapeutic relevance for targeting type 2 cytokines. Agents such as dupilumab and potentially JAK inhibitors may offer new avenues for effective disease management.",
  "abstract_shown": true,
  "affiliations": [
    "Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami Florida USA",
    "Department of Biochemistry and Molecular Biology University of Miami Miller School of Medicine Miami Florida USA",
    "Unit of Clinic Dermatology Vita‐Salute San Raffaele University Milan Italy",
    "St John's Institute of Dermatology King's College London London UK"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Simonetta I. Gaumond",
      "orcid": "0009-0002-5173-0698"
    },
    {
      "affs": [
        0
      ],
      "name": "Victoria Soto",
      "orcid": "0009-0007-0896-0857"
    },
    {
      "affs": [
        0
      ],
      "name": "Beatriz Abdo Abujamra",
      "orcid": "0000-0001-8619-9273"
    },
    {
      "affs": [
        2
      ],
      "name": "Franco Rongioletti",
      "orcid": "0000-0002-2227-581X"
    },
    {
      "affs": [
        3
      ],
      "name": "John A. McGrath",
      "orcid": "0000-0002-3708-9964"
    },
    {
      "affs": [
        0
      ],
      "name": "Ivan Jozic",
      "orcid": "0000-0001-5114-9524"
    },
    {
      "affs": [
        0
      ],
      "name": "Paolo Romanelli",
      "orcid": "0000-0002-6390-0511"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dmka6gan1b42v.bib",
  "cited_by": 1,
  "doi": "10.1111/cup.70156",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13727339/",
  "id": "dmka6gan1b42v",
  "issns": [
    "0303-6987",
    "1600-0560"
  ],
  "landing_url": "https://doi.org/10.1111/cup.70156",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Article"
    ],
    [
      "openalex",
      "1311|Genetic and rare skin diseases."
    ]
  ],
  "openalex": "W7167464605",
  "pdf_url": null,
  "pmcid": "PMC13727339",
  "pmid": "42410304",
  "published": "2026-07-06",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/dmka6gan1b42v.ris",
  "sources": [
    {
      "first_seen": "2026-11-05T12:23:26Z",
      "native_id": "PMC13727339",
      "source": "pmc",
      "url": "https://doi.org/10.1111/cup.70156"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genetic and rare skin diseases.",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Elevated IL‐4 and IL‐13 Expression in Hailey‐Hailey Disease: Evidence for Th2‐Mediated Pathogenesis and Targeted Treatment",
  "title_text": "Elevated IL‐4 and IL‐13 Expression in Hailey‐Hailey Disease: Evidence for Th2‐Mediated Pathogenesis and Targeted Treatment",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T12:23:02Z",
  "url": "https://research.draconitic.com/paper/dmka6gan1b42v",
  "venue": "Journal of Cutaneous Pathology",
  "versions": []
}