White Sponge Nevus: A Case Report

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Abstract

White sponge nevus (WSN) is a rare hereditary dyskeratotic hyperplasia of mucous membranes. It is an autosomal dominant disorder with variable penetrance. We report a case of WSN in a healthy 21-year-old male with no history of familial involvement. A white smooth plaque with no erythema or other structural abnormalities was observed, which confirmed the diagnosis of WSN histopathologically.

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A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.

Irwin McLean, C Munro, D Lunny … (1995)

White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologically, the plaques show evidence of hyperproliferation, acanthosis and tonofilament aggregation. These types of pathogenic changes are characteristic of many of the epidermal keratin disorders. Keratins are expressed in pairs by epithelial cells in a tissue and cell specific manner. The major differentiation specific keratins of the buccal mucosa, nasal, esophageal and anogenital epithelia are K4 and K13 (ref. 7). The tissue distribution and nature of the lesions in patients affected by WSN suggested that mutations in K4 and/or K13 might be responsible for this disorder. We have now confirmed this hypothesis and report here a three base-pair (bp) deletion in the helix initiation peptide of K4 in affected members from two families with this condition.

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Evaluation of Oral Mucosal Lesions in 598 Referred Iranian Patients

Jahanfar Jahanbani, Leiv Sandvik, Torstein Lyberg … (2009)

The mucosal membrane of the oral cavity displays at times classical developmental lesions considered to be variations of normal structures rather than having disease characteristics. Of these lesions leukoedema, Fordyce granules, geographic-, fissured- and hairy tongue, median rhomboid glossitis and lingual varices were studied in 598 patients referred to the School of Dentistry, Tehran, Iran. The prevalence was studied in relation to age, gender, occupation, education, smoking habits, general health, addictions and or drug therapies. Oral developmental lesions were seen in 295 patients (49.3%). Only Fordyce granules (27,9%), fissured tongue (12,9%), leukoedema (12,5%) and hairy tongue (8,9%) had enough cases for statistical analysis. Three of these lesions increased with age but not fissured tongue. All were more common in men. After adjusting for age, the parameters education, occupation and complaints upon referral had little influence on the prevalence of the lesions. Fewer Fordyce granules were seen in oral mucosa of smoking men. Leukoedema and hairy tongue were significantly associated with smoking, leukoedema with diabetes mellitus. We conclude that there was a highly significant association between these oral lesions and age, gender and smoking. Few significant associations were found between oral lesions and general diseases.

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Constitutional mutation of keratin 13 gene in familial white sponge nevus.

Satoshi Yokoo, Jianming Zhang, Takahide Komori … (2003)

We sought to investigate a novel mutation in the keratin genes assumed to be responsible for a familial case of oral white sponge nevus. The affected family consisted of a 36-year-old woman, her 17-year-old daughter, and her 14-year-old son. Keratin 4 and 13 genes extracted from venous blood lymphocytes were amplified by using the polymerase chain reaction and directly sequenced. Sequencing analysis of the 3 patients revealed the presence of a novel heterozygous T-to-C transition mutation in exon 1 of the keratin 13 gene, with no abnormalities detected in the keratin 4 gene. We identified a novel heterozygous missense mutation at 332T>C in the keratin 13 gene believed to be related to the development of white sponge nevus.

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Author and article information

Journal

Journal ID (nlm-ta): J Dent Res Dent Clin Dent Prospects

Journal ID (iso-abbrev): J Dent Res Dent Clin Dent Prospects

Journal ID (publisher-id): Journal of Dental Research, Dental Clinics, Dental Prospects

Title: Journal of Dental Research, Dental Clinics, Dental Prospects

Publisher: Tabriz University of Medical Sciences

ISSN (Print): 2008-210X

ISSN (Electronic): 2008-2118

Publication date (Print): Spring 2009

Publication date (Electronic): 5 June 2009

Volume: 3

Issue: 2

Pages: 70-72

Affiliations

¹Assistant Professor, Department of Oral and Maxillofacial Pathology, Faculty of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran

²Assistant Professor, Department of Oral Medicine, Faculty of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran

³Post-graduate Student, Department of Oral Medicine, Faculty of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran

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[* ]Corresponding Author; fpourali@ 123456yahoo.com

Article

DOI: 10.5681/joddd.2009.017

PMC ID: 3517290

PubMed ID: 23230487

SO-VID: f7a8c0f8-5ed6-424b-bb78-2a11b2fd7a13

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This is an open-access article distributed under the terms of the Creative Commons Attribution 3.0 License( http://creativecommons.org/licenses/by/3.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

White Sponge Nevus: A Case Report

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Arab Journal of Forensic Sciences & Forensic Medicine (AJFSFM)

Most cited references 21

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.

Evaluation of Oral Mucosal Lesions in 598 Referred Iranian Patients

Constitutional mutation of keratin 13 gene in familial white sponge nevus.

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