title: 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.
authors.affiliation: Department of Stomatology,Huashan Hospital, Fudan University,Shanghai 200040,People's Republic of China.
authors.forename: Wenping
authors.initials: W
authors.lastname: Cai
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine,School of Stomatology, Tongji University,Shanghai 200072,People's Republic of China.
authors.forename: Beizhan
authors.initials: B
authors.lastname: Jiang
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine,School of Stomatology, Tongji University,Shanghai 200072,People's Republic of China.
authors.forename: Fang
authors.initials: F
authors.lastname: Yu
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital,Tongji University School of Medicine,Shanghai 200072,People's Republic of China.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital,Tongji University School of Medicine,Shanghai 200072,People's Republic of China.
authors.forename: Zhenghu
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital,Tongji University School of Medicine,Shanghai 200072,People's Republic of China.
authors.forename: Junjun
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital,Tongji University School of Medicine,Shanghai 200072,People's Republic of China.
authors.forename: Rongbin
authors.initials: R
authors.lastname: Wei
authors.affiliation: Department of Stomatology,Huashan Hospital, Fudan University,Shanghai 200040,People's Republic of China.
authors.forename: Shouliang
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine,School of Stomatology, Tongji University,Shanghai 200072,People's Republic of China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Stomatology,Huashan Hospital, Fudan University,Shanghai 200040,People's Republic of China.
authors.forename: Shangfeng
authors.initials: S
authors.lastname: Liu
mesh_terms: D000818:Animals; D006801:Humans; D053529:Leukokeratosis, Hereditary Mucosal / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D009061:Mouth Mucosa / Q000473:pathology; D035583:Rare Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology