Hosseinpour Sarmadi Maryam, Javadzadeh Farshad, Taghavi Zenouz Mahsa, Zohrabi Mina
Department of Oral & Maxillofacial Medicine, Faculty of Dentistry Tabriz University of Medical Sciences Tabriz Iran.
Faculty of Medicine Tabriz University of Medical Sciences Tabriz Iran.
Clin Case Rep. 2025 Aug 30;13(9):e70833. doi: 10.1002/ccr3.70833. eCollection 2025 Sep.
White sponge nevus (WSN) is a rare, benign genetic disorder characterized by distinctive white or gray mucosal lesions, most commonly affecting the oral cavity. Inherited in an autosomal dominant pattern, WSN results from mutations in keratin genes-primarily KRT4 and KRT13. These mutations lead to the development of thick, spongy plaques in the oral mucosa, with extraoral involvement more commonly associated with KRT13 mutations. The condition typically manifests in early childhood, presenting as painless, persistent white plaques. Diagnosis is usually based on clinical evaluation, although histopathological examination can provide confirmation. WSN is generally asymptomatic and does not require treatment; however, its cosmetic appearance may cause psychological discomfort. Although malignant transformation is rare, certain antimicrobial therapies have shown promise in symptom management. This report describes a case of WSN in a 23-year-old Iranian woman, detailing the clinical presentation, diagnostic process, and potential treatment strategies. Despite its benign nature, further research into the pathogenesis and therapeutic options is essential to improve patient care and quality of life.
白色海绵状痣(WSN)是一种罕见的良性遗传性疾病,其特征为独特的白色或灰色黏膜病变,最常累及口腔。WSN以常染色体显性模式遗传,由角蛋白基因(主要是KRT4和KRT13)突变引起。这些突变导致口腔黏膜出现增厚的海绵状斑块,口外受累更常与KRT13突变相关。该病通常在儿童早期出现,表现为无痛性、持续性白色斑块。诊断通常基于临床评估,不过组织病理学检查可提供确诊依据。WSN一般无症状,无需治疗;然而,其外观可能会引起心理不适。虽然恶变罕见,但某些抗菌疗法在症状管理方面已显示出前景。本报告描述了一名23岁伊朗女性的WSN病例,详细介绍了临床表现、诊断过程及潜在治疗策略。尽管其本质为良性,但进一步研究发病机制和治疗选择对于改善患者护理和生活质量至关重要。