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Hyper-IgE syndrome caused by DOCK8 mutation with a tumour-like lesion of the lip: a case report

  • W.-X. Zhu
    Affiliations
    Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, China

    Center of Stomatology, China–Japan Friendship Hospital, Beijing, China
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  • Y.-Y. Liu
    Affiliations
    Department of Rheumatology and Immunology, Capital Medical University Affiliated Beijing Friendship Hospital, Beijing, China
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  • H. Hua
    Affiliations
    Department of Oral Medicine, Peking University School and Hospital of Stomatology, Beijing, China
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  • G.-Y. Yu
    Correspondence
    Correspondence to: Department of Oral and Maxillofacial Surgery, Peking University School of Stomatology, 22 Zhongguancun South Street, Beijing 100081, China.
    Affiliations
    Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, China
    Search for articles by this author
Published:April 05, 2022DOI:https://doi.org/10.1016/j.ijom.2022.03.055

      Abstract

      Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation is an immunodeficiency. However, the presentation of a tumour-like lesion of the lip in autosomal recessive hyper-IgE syndrome has not yet been reported. This article reports the case of a 20-year-old man with autosomal recessive hyper-IgE syndrome who presented with a tumour-like lesion of the lip, and hyperplasia and erosion of the gingiva. The clinical manifestations included coarse face and neck skin, a diffuse tumour-like lesion on the upper lip showing a reddish erosive nodular surface with yellowish-white exudation, erosive buccal mucosa, and severe periodontitis. The swollen gingival and palatal mucosa indicated nodular hyperplasia and redness with pseudomembrane. The patient had a significantly increased peripheral blood eosinophil count and serum IgE level and an abnormal T lymphocyte count. His oral lesions improved markedly after prednisolone acetate use and local symptomatic treatment for 2 years. However, the patient unfortunately died of a cerebral infection 6 months after the oral lesions had resolved. The novel features of the labial tumour-like lesion described here extend our understanding of the manifestations of autosomal recessive hyper-IgE syndrome.

      Keywords

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