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White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report
Yahui Qiao1,2,3, Binjie Liu1,2,3, Ruiqi Bai1,2,3
1Xiangya Stomatological Hospital, Central South University, Changsha 410008, China.
Genes
|December 23, 2022
Summary
White sponge nevus (WSN), a rare genetic disorder, is linked to keratin gene mutations. This study identifies a K4 gene deletion in a family, including identical twins, offering insights into WSN pathogenesis.
Area of Science:
- Genetics
- Oral Medicine
- Dermatology
Background:
- White sponge nevus (WSN) is an inherited condition affecting oral mucosa.
- It is typically caused by mutations in keratin 4 (K4) or keratin 13 (K13) genes.
- WSN presents as white, corrugated folds on the buccal mucosa.
Observation:
- This study examined four WSN patients from a single family.
- Monozygotic twins with highly similar WSN clinical presentations were observed.
- Histopathology revealed hyperkeratosis, edema, and vacuolar changes in spinous cells.
Findings:
- Gene sequencing identified a heterozygous deletion (C. 438_440delCAA) in K4 gene exon 1.
- This deletion resulted in aspartic acid loss in affected family members.
- This is the first report of WSN in monozygotic twins with this specific K4 mutation.
Implications:
- Understanding the K4 gene's role in WSN pathogenesis is crucial.
- Accurate diagnosis and differential diagnosis from other oral white lesions are important.
- Further research may guide future therapeutic strategies for WSN.
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