Current approaches to the diagnosis and treatment of white sponge nevus
Abstract
White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.
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White Sponge Nevus (WSN) is a rare autosomal dominant keratinopathy with variable expressivity and irregular penetrance, affecting approximately one in 200,000 individuals.
“White Sponge Nevus (WSN) is a rare autosomal dominant keratinopathy3 with variable expressivity and irregular penetrance, affecting approximately one in 200,000 individuals.4”
From Oral white sponge nevus in patients with ectrodactyly-ectodermal dysplasia-cleft syndrome: two patients treated with liquid nitrogen cryotherapy (2026) · cites this paper as [4]
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White sponge nevus: report of three cases in a single family
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Gerlero, P., Lourenço, S. V., & Nico, M. M. S. (2026) · Anais Brasileiros de Dermatologia · doi:10.1016/j.abd.2026.501401
- Authors
- Cai, W., Jiang, B., Yu, F., Yang, J., Chen, Z., Liu, J., Wei, R., Zhao, S., Wang, X., & Liu, S.
- Affiliations
- Fudan University (CN)
- Tongji University (CN)
- Corresponding author
- Zhao, Shouliang
- Wang, Xiaoping
- Liu, Shangfeng
- ORCID
- Venue
- Expert Reviews in Molecular Medicine
- Publisher
- Cambridge University Press (CUP)
- Published
- 2015
- Volume
- 17
- Pages
- e9-e9
- ISSN
- 1462-3994 (ISSN-L)
- OpenAlex
- W1454600080
- Cited by
- 33
- References
- 64
- Citations by year
- 2026: 4 · 2025: 1 · 2024: 4 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 7 · 2019: 3 · 2018: 5 · 2017: 1 · 2016: 2
- FWCI
- 0.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Expert Reviews in Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Health Sciences › Dentistry › Periodontics › Oral Health Pathology and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- white sponge nevus, oral mucosa, keratin 4, keratin 13, gene therapy, animal models, pathophysiological mechanisms, diagnosis, treatment
- MeSH terms
- Animals, Humans, Mouth Mucosa, Rare Diseases, Leukokeratosis, Hereditary Mucosal
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