Hyper-IgE syndrome caused by DOCK8 mutation with a tumour-like lesion of the lip: a case report. Issue 12 (December 2022)

• Record Type: Journal Article
• Authors: Zhu, W.-X.; Liu, Y.-Y.; Hua, H.; Yu, G.-Y.
• Is Part Of: International journal of oral & maxillofacial surgery. Volume 51:Issue 12(2022)
• Page Start: 1545
• Page End: 1548
• Publication Date: 2022-12
• Subjects: Job syndrome -- hyper-IgE syndrome -- human DOCK8 protein -- mutation -- mouth diseases; Mouth -- Surgery -- Periodicals; Maxilla -- Surgery -- Periodicals; Dentistry -- Periodicals; Dentistry, Operative; Oral Surgical Procedures; Surgery, Oral; Dentistry; Maxilla -- Surgery; Mouth -- Surgery; Electronic journals; Periodicals; 617.52059
• DOI: 10.1016/j.ijom.2022.03.055
• Languages: English
• ISSNs: 0901-5027

Abstract

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.