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Current approaches to the diagnosis and treatment of white sponge nevus

Published online by Cambridge University Press:  29 May 2015

Wenping Cai ,
Beizhan Jiang ,
Fang Yu ,
Jianhua Yang ,
Zhenghu Chen ,
Junjun Liu ,
Rongbin Wei ,
Shouliang Zhao ,
Xiaoping Wang  and
Shangfeng Liu
Wenping Cai
Affiliation:
Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200040, People's Republic of China
Beizhan Jiang
Affiliation:
Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, People's Republic of China
Fang Yu
Affiliation:
Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, People's Republic of China
Jianhua Yang
Affiliation:
Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, People's Republic of China
Zhenghu Chen
Affiliation:
Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, People's Republic of China
Junjun Liu
Affiliation:
Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, People's Republic of China
Rongbin Wei
Affiliation:
Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai 200072, People's Republic of China
Shouliang Zhao*
Affiliation:
Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200040, People's Republic of China
Xiaoping Wang*
Affiliation:
Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, People's Republic of China
Shangfeng Liu*
Affiliation:
Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200040, People's Republic of China
*
* Shouliang Zhao, Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200040, People's Republic of China Tel: 86-21-52887813; Fax: 86-21-52887813; E-mail: slzhao@tongji.edu.cn
* Xiaoping Wang, Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, People's Republic of China Tel: 86-21-65986073; Fax: 86-21-65986073; E-mail: wxp990@hotmail.com
* Corresponding author: Shangfeng Liu, Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200040, People's Republic of China Tel: 86-21-65986790; Fax: 86-21-65986790; E-mail: shangfengliufudan@163.com
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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.

Information

Type
Review Article
Information
Expert Reviews in Molecular Medicine , Volume 17 , 2015 , e9
Copyright
Copyright © Cambridge University Press 2015 

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References

1. Hyde, J. (1909) An unusual naevus of the tongue in a five-year-old boy. Journal of Cutaneous Diseases 27, 256 Google Scholar
2. Cannon, A. (1935) White sponge nevus of the mucosa (naevus spongiosus albus mucosae). Archives of Dermatology 31, 365 Google Scholar
3. Frithiof, L. and Bánóczy, J. (1976) White sponge nevus (leukoedema exfoliativum mucosae oris): ultrastructural observations. Oral Surgery, Oral Medicine, Oral Pathology 41, 607-622 Google Scholar
4. Jorgenson, R.J. and Levin, L.S. (1981) White sponge nevus. Archives of Dermatology 117, 73 Google Scholar
5. McGinnis, J.P. and Turner, J.E. (1975) Ultrastructure of the white sponge nevus. Oral Surgery, Oral Medicine, Oral Pathology 40, 644-651 Google Scholar
6. Richard, G. et al. (1995) Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nature Genetics 11, 453-455 Google Scholar
7. Rugg, E. et al. (1995) A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nature Genetics 11, 450-452 Google Scholar
8. Moll, R. et al. (2008) The human keratins: biology and pathology. Histochemistry & Cell Biology 129, 705-733 Google Scholar
9. Majumdar, D. et al. (2012) Keratins in colorectal epithelial function and disease. International Journal of Experimental Pathology 93, 305-318 Google Scholar
10. Smith, F.J. (2003) The molecular genetics of keratin disorders. American Journal of Clinical Dermatology 4, 347-364 Google Scholar
11. Maahs, M. et al. (2007) White sponge nevus. A case report. Minerva Stomatologica 56, 649 Google Scholar
12. Jornet, P.L. (2008) White sponge nevus: presentation of a new family. Pediatric Dermatology 25, 116-117 Google Scholar
13. Lucchese, A. and Favia, G. (2006) White sponge naevus with minimal clinical and histological changes: report of three cases. Journal of Oral Pathology & Medicine 35, 317-319 Google Scholar
14. Cheong, M.L. (2009) Hereditary mucosal leukokeratosis. International Journal of Dermatology 48, 1001-1002 Google Scholar
15. Cutlan, J. et al. (2010) White sponge nevus presenting as genital lesions in a 28-year-old female. Journal of Cutaneous Pathology 37, 386-389 Google Scholar
16. Polcari, I. and Chamlin, S. (2006) A 6-month-old boy with white oral lesions. Pediatric Annals 35, 874-876 Google Scholar
17. Dadlani, C. et al. (2008) White sponge nevus. Dermatology Online Journal 14, 16 Google Scholar
18. Aghbali, A. et al. (2009) White sponge nevus: a case report. Journal of Dental Research, Dental Clinics, Dental Prospects 3, 70 Google Scholar
19. Dalben, G. et al. (2010) White sponge nevus in a patient with EEC syndrome. Dermatology Online Journal 16, 7 Google Scholar
20. Legler, A. et al. (2010) Woolly hair nevus with an ipsilateral associated epidermal nevus and additional findings of a white sponge nevus. Pediatric Dermatology 27, 100-101 Google Scholar
21. DeTomas, M. et al. (1999) White sponge nevus: presentation of sixteen cases corresponding to six families. Med Oral. 4, 494-502 Google Scholar
22. Martelli, H.J. et al. (2007) White sponge nevus: report of a three-generation family. Oral Surgery Oral Medicine Oral Pathology Oral Radiology Endodontics 103, 43 Google Scholar
23. Martins, F.P. et al. (2011) Familial case of oral white sponge nevus: a rare hereditary condition. Anais Brasileiros de Dermatologia 86, 39-41 Google Scholar
24. Samatha, Y. et al. (2012) Familial white sponge nevus of the oral mucosa: report of occurrence in three generations. Quintessence International 43, 319 Google Scholar
25. Kimura, M. et al. (2012) Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. International Journal of Oral Maxillofac Surgery 42, 615-618 Google Scholar
26. Marrelli, M. et al. (2012) Oral infection by Staphylococcus aureus in patients affected by White Sponge Nevus: a description of two cases occurred in the same family. International Journal of Medical Science 9, 47 Google Scholar
27. Lin, D. et al. (2013) Siblings present different clinical manifestations in white sponge nevus. West China Journal of Stomatology 31, 432-433 Google Scholar
28. Su, L. et al. (1993) Expression of keratin 14 and 19 mRNA and protein in normal oral epithelia, hairy leukoplakia, tongue biting and white sponge nevus. Journal of Oral Pathology & Medicine 22, 183-189 Google Scholar
29. Terrinoni, A. et al. (2000) A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. Journal of Investigative Dermatology 114, 388-391 Google Scholar
30. Chao, S. et al. (2003) A novel mutation in the keratin 4 gene causing white sponge naevus. British Journal of Dermatology 148, 1125-1128 Google Scholar
31. Zhang, J. et al. (2009) Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family. Oral Diseases 15, 100-105 Google Scholar
32. Shimizu, A. et al. (2012) White sponge nevus caused by a missense mutation in the keratin 4 gene. European Journal of Dermatology 22, 571-572 Google Scholar
33. Richard, G. et al. (1995) Keratin-13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nature Genetics 11, 453-455 Google Scholar
34. Rugg, E. et al. (1999) Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. Oral Diseases 5, 321-324 Google Scholar
35. Terrinoni, A. et al. (2001) A novel mutation in the keratin 13 gene causing oral white sponge nevus. Journal of Dental Research 80, 919-923 Google Scholar
36. Shibuya, Y. et al. (2003) Constitutional mutation of keratin 13 gene in familial white sponge nevus. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontics 96, 561-565 Google Scholar
37. Nishizawa, A. et al. (2008) A de novo missense mutation in the keratin 13 gene in oral white sponge naevus. British Journal of Dermatology 159, 974-975 Google Scholar
38. Liu, X. et al. (2011) Mutational analysis in familial and sporadic patients with white sponge naevus. British Journal of Dermatology 165, 448-451 Google Scholar
39. Cai, W. et al. (2014) Keratin 13 mutations associated with oral white sponge nevus in two Chinese families. Meta Gene 2, 374-383 Google Scholar
40. Ness, S.L. et al. (1998) Mouse keratin 4 is necessary for internal epithelial integrity. Journal of Biological Chemistry 273, 23904-23911 Google Scholar
41. McGowan, K.A. et al. (2006) Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus. Journal of Investigative Dermatology 127, 60-64 Google Scholar
42. Songu, M. et al. (2012) White sponge nevus: clinical suspicion and diagnosis. Pediatric Dermatology 29, 495-497 Google Scholar
43. Alinovi, A. et al. (1982) White sponge nevus: successful treatment with penicillin. Acta Dermato-Venereologica 63, 83-85 Google Scholar
44. McDonagh, A. et al. (1990) White sponge naevus successfully treated with topical tetracycline. Clinical and Experimental Dermatology 15, 152-153 Google Scholar
45. Lim, J. and Ng, S.K. (1992) Oral tetracycline rinse improves symptoms of white sponge nevus. Journal of the American Academy of Dermatology 26, 1003-1005 Google Scholar
46. Becker, L. et al. (1997) White sponge naevus successfully treated with tetracycline mouth rinse. Acta Dermato-Venereologica 77, 413 Google Scholar
47. Lamey, P.J. et al. (1998) Oral white sponge naevus: response to antibiotic therapy. Clinical and Experimental Dermatology 23, 59-63 Google Scholar
48. Irvine, A. and McLean, W. (1999) Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation. British Journal of Dermatology 140, 815-828 Google Scholar
49. Quintella, C. et al. (2004) Orthodontic therapy in a patient with white sponge nevus. American Journal of Orthodontics and Dentofacial Orthopedics 125, 497-499 Google Scholar
50. Otobe, I.F. et al. (2006) Successful treatment with topical tetracycline of oral white sponge nevus occurring in a patient with systemic lupus erythematosus. International Journal of Dermatology 45, 1130-1131 Google Scholar
51. Otobe, I. et al. (2007) White sponge naevus: improvement with tetracycline mouth rinse: report of four cases. Clinical and Experimental Dermatology 32, 749-751 Google Scholar
52. Dufrasne, L. et al. (2011) Current therapeutic approach of the white sponge naevus of the oral cavity. Bulletin du Groupèment international pour la recherche scientifique en stomatologie & odontologie 50, 1-5 Google Scholar
53. Satriano, R.A. et al. (2012) White sponge nevus treated with chlorhexidine. Journal of Dermatology 39, 742-743 Google Scholar
54. Terrinoni, A. et al. (2001) A novel mutation in the keratin 13 gene causing oral white sponge nevus. Journal of Dental Research 80, 919 Google Scholar
55. Rugg, E.L. and Leigh, I.M. (2004) The keratins and their disorders. American Journal of Medical Genetics C Seminars in Medical Genetics 131C, 4-11 Google Scholar
56. Cordon, L.D. and McLean, W.H.I. (1996) Human keratin diseases. Experimental Dermatology 5, 297-307 Google Scholar
57. Verma, N. et al. (2011) Recent advances in the use of Sus scrofa (pig) as a model system for proteomic studies. Proteomics 11, 776-793 Google Scholar
58. Walters, E.M. et al. (2011) Animal models got you puzzled?: think pig. Annals of the New York Academy of Sciences 1245, 63-64 Google Scholar
59. Li, X.J. and Li, W. (2012) Beyond mice: genetically modifying larger animals to model human diseases. Journal of Genetics & Genomics 39, 237-238 Google Scholar
60. Bendixen, E. et al. (2010) Advances in porcine genomics and proteomics e a toolbox for developing the pig as model organism for molecular biomedical research. Briefings in Functional Genomics 9, 208-219 Google Scholar
61. Fan, N. and Lai, L. (2013) Genetically modified pig models for human diseases. Journal of Genetics & Genomics 40, 67-73 Google Scholar
62. Wiznerowicz, M. and Trono, D. (2005) Harnessing HIV for therapy, basic research and biotechnology. Trends in Biotechnology 23, 42-47 Google Scholar
63. Allie, A. et al. (2010) Oral medicine case book 25. White sponge naevus. SADJ: Journal of the South African Dental Association = tydskrif van die Suid-Afrikaanse Tandheelkundige Vereniging 65, 130 Google Scholar
64. Takahashi, K. and Yamanaka, S. (2006) Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126, 663-676 Google Scholar
65. Wang, S. et al. (2012) Clinical applications of mesenchymal stem cells. Journal of Hematology & Oncology 5, 19 Google Scholar
66. Xue, Z. et al. (2013) Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing. Nature 500, 593-597 Google Scholar