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KMID : 0829220170410060295
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Korean Journal of Oral and Maxillofacial Pathology
2017 Volume.41 No. 6 p.295 ~ p.300
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A Familial Case of White Sponge Nevus in a Korean Family
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Kim Hak-Jin
Yang Dong-Hyun
Zhang Xiang Lan
Kim Jin
Choi A-Jin
Shin Kyoung-Jin
Huh Jong-Ki
Park Kwang-Ho
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Abstract
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White sponge nevus (WSN) is a rare autosomal dominant disorder characterised by rough thickening, fissure formation, and a whitish colour change in the oral mucosa. This disorder predominantly affects the nonkeratinized stratified squamous epithelium of the mucosa. We experienced a familial case of WSN (i.e., a mother and her two daughters) and performed keratin gene analysis and immunohistochemical staining. The results of a mutation analysis revealed the presence of a heterozygous missense mutation 344T to G in KRT13, predicting an amino acid change leucine (L) to arginine (R), in the 1A domain of the KRT13 polypeptide. Immunohistochemically, the loss of keratin 4 expression was found.
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KEYWORD
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White lesion, White sponge nevus, Keratin 13, Keratin 4, Mutation
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