{
  "abstract": "Lipoid proteinosis (LP) is a rare autosomal recessive disorder resulting from mutations in the ECM1 gene and characterized by mucocutaneous thickening and deposition of hyaline material. We present a 10-year-old male with hoarseness, moniliform blepharosis, oral mucosal nodules, and cutaneous lesions. Histopathology showed PAS-positive hyaline material deposition. Genetic analysis by next-generation sequencing identified a homozygous synonymous variation, ECM1 c.879G>A (p.Ser293=), which has not been previously reported in a homozygous form. Segregation analysis showed heterozygosity in both parents. In accordance with ACMG guidelines, the variant meets criteria PS4, PM2, PM3, PP3, and PP4, supporting its reclassification as pathogenic. This case highlights the diagnostic value of combining clinical, histological, and genomic data, especially in the evaluation of variations of uncertain significance. Genotyping in patients clinically and histopathologically compatible with LP is crucial to inform disease management and enhance understanding of its genetic background.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Ophthalmology, Dogubayazit Dr. Yasar Eryilmaz State Hospital, Agri, Türkiye.",
    "Department of Ophthalmology, Osmangazi Aritmi Hospital, Bursa, Türkiye.",
    "Department of Ophthalmology, Eye and Body Clinic, Istanbul, Türkiye.",
    "Department of Medical Genetics, University of Health Sciences, Haseki Training and Research Hospital, Istanbul, Türkiye.",
    "Department of Pathology, University of Health Sciences, Haydarpasa Numune Training and Research Hospital, Istanbul, Türkiye.",
    "Department of Medical Genetics, Ege University, Izmir, Türkiye.",
    "Department of Ophthalmology, University of Health Sciences, Beyoglu Eye Training and Research Hospital, Istanbul, Türkiye."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Metehan Simsek"
    },
    {
      "affs": [
        1
      ],
      "name": "Husna Topcu"
    },
    {
      "affs": [
        2
      ],
      "name": "Kubra Serefoglu Cabuk"
    },
    {
      "affs": [
        3
      ],
      "name": "Pelin Ozyavuz Cubuk"
    },
    {
      "affs": [
        4
      ],
      "name": "Erva Bengu Balaban"
    },
    {
      "affs": [
        5
      ],
      "name": "Alp Peker"
    },
    {
      "affs": [
        6
      ],
      "name": "Mehmet Goksel Ulas"
    },
    {
      "affs": [
        6
      ],
      "name": "Ayse Cetin Efe"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/djv1v5zvwfjxw.bib",
  "cited_by": 0,
  "doi": "10.14744/bej.2026.46343",
  "fulltext_url": "https://europepmc.org/articles/PMC13678143",
  "id": "djv1v5zvwfjxw",
  "issns": [
    "2459-1777",
    "2587-0394"
  ],
  "landing_url": "https://europepmc.org/article/MED/42898511",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|Genetic and rare skin diseases."
    ]
  ],
  "openalex": "W7215088303",
  "pdf_url": "https://europepmc.org/articles/PMC13678143?pdf=render",
  "pmcid": "PMC13678143",
  "pmid": "42898511",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/djv1v5zvwfjxw.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:37Z",
      "native_id": "MED:42898511",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42898511"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genetic and rare skin diseases.",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.",
  "title_text": "A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:37Z",
  "url": "https://research.draconitic.com/paper/djv1v5zvwfjxw",
  "venue": "Beyoglu eye journal",
  "versions": []
}