White Sponge Nevus of the Oral Cavity: Affecting Members of Two Generations in a Family

Abstract

White sponge nevus (WSN) /Canon’s disease is a rare, autosomal dominant mucosal disorder. WSN falls in the category of Oral Genodermatosis which can be easily diagnosed based on the history and clinical examination. Here we report the first two cases of WSN in a young girl and her mother.

A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis

“…The autosomal dominant feature of this disease is irregular penetrance, variability, and expressivity within the same family [3][4][5]. No similar lesions were found among the patient's relatives, and the lesions only affected the oral mucosa.…”

“…In white sponge nevus, point mutations involve the keratin four and keratin 13 genes, which encode the mucosa-specific keratin intermediate filament proteins cytokeratin 4 (type 2) and cytokeratin 13 (type 1). These proteins are important for the formation of keratin filaments [4,5]. Liu et al compared sporadic and familial cases of white spongiform nevus and concluded that only one in five sporadic cases had keratin mutations [6].…”

“…Although the etiology of OLP is multifactorial, it is believed that an imbalanced immune system and autoreactive T lymphocytes play significant roles in the development of the disease. Oral lichen planus has different clinical manifestations and can present as papular, reticular, white plaque-like, bullous, erythematous, and ulcerative changes [2,3,5,8]. The white components can be seen as plaques with reticular elements.…”

“…WSN is a very rare, autosomal dominant hereditary disorder as genetic transmission involves mutations in the cytokeratin four and cytokeratin 13 genes that cause typical mucosal keratinization defects. These defects lead to keratin instabil-ity and the appearance of hyperkeratotic lesions on nonkeratinized epithelial surfaces [5][6][7].…”