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

      case-report
      Author(s): 1 , , 2 , 3 , 4
      Publication date (Electronic):
      Journal: Case Reports in Dentistry
      Publisher: Hindawi

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          Abstract

          White sponge nevus is a rare genetic autosomal dominant disorder characterized by irregular patches of thick, white diffuse plaques, which mainly affects the oral mucosa and, very rarely, the skin or mucosa of the nose, esophagus, and anogenital region. We present a case of oral white sponge nevus in a 62-year-old woman, the differential diagnosis of which was of particular interest due to other similar white oral lesions, some of which are potentially malignant. The lesions were verified histologically. However, no treatment was performed due to the benign and asymptomatic nature of the lesions.

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          Oral White Lesions: An Updated Clinical Diagnostic Decision Tree

          Hamed Mortazavi, Yaser Safi, Maryam Baharvand … (2019)
          Diagnosis of oral white lesions might be quite challenging. This review article aimed to introduce a decision tree for oral white lesions according to their clinical features. General search engines and specialized databases including PubMed, PubMed Central, EBSCO, Science Direct, Scopus, Embase, and authenticated textbooks were used to find relevant topics by means of MeSH keywords such as “mouth disease”, “oral keratosis”, “oral leukokeratosis”, and “oral leukoplakia”. Related English-language articles published since 2000 to 2017, including reviews, meta-analyses, and original papers (randomized or nonrandomized clinical trials; prospective or retrospective cohort studies), case reports, and case series about oral diseases were appraised. Upon compilation of data, oral white lesions were categorized into two major groups according to their nature of development: Congenital or acquired lesions and four subgroups: Lesions which can be scraped off or not and lesions with the special pattern or not. In total, more than 20 entities were organized in the form of a decision tree in order to help clinicians establish a logical diagnosis by a stepwise progression method.
          Article 0 comments Cited 18 times – based on 0 reviews     Review now
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            A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.

            S Oddi, G. Melino, D N Camaione … (2000)
            White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and "spongy" plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have already been demonstrated to be responsible for WSN; the identification of new keratin mutations in a stratified squamous epithelia closely related to epidermis is of relevance for the understanding of the biochemistry of intermediate filaments, and for genotype phenotype correlations. In this study we investigated a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the helix initiation motif of the 1A alpha helical domain of K4. We report this new K4 gene mutation and describe an amino acid insertion, in the 1A domain, responsible for a keratin disease.
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              White sponge nevus: report of a three-generation family.

              Hercílio Martelli-Júnior, João Batista T. Rocha, Renata Pereira … (2006)
              White sponge nevus (WSN) is a rare autosomal dominant disorder that results in soft, white, and spongy plaques in the oral mucosa. The aim of this study was to describe the clinical, histopathologic, and genetic features of a family, spanning 3 generations, affected by WSN. This study was performed using a cross-sectional layout analyzing a family with WSN. Clinical examination of family members revealed that of 23 descendants, 8 (34.78%) had WSN features. Unaffected and affected members transmitted the disease to their offspring. The offspring recurrence risk was 0.34, and an incomplete level of penetrance was observed. The lesions showed many clinical and histopathologic similarities to cases previously reported. The most affected sites were buccal and labial mucosa, with a rare appearance in the palate. No extraoral lesion was found. Histological examination showed intense acanthosis and hyperparakeratosis-induced epithelial hyperplasia. Within the spinous layer, cells showing perinuclear eosinophilic condensation of the cytokeratin (CK) filaments were frequent. The disease was transmitted by an autosomal dominant mode of inheritance, appearing mainly in the buccal and labial mucosa.
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                Author and article information

                Contributors
                E. Deliverska:
                ORCID: https://orcid.org/0000-0002-2356-9932
                Journal
                Journal ID (nlm-ta): Case Rep Dent
                Journal ID (iso-abbrev): Case Rep Dent
                Journal ID (publisher-id): CRID
                Title: Case Reports in Dentistry
                Publisher: Hindawi
                ISSN (Print): 2090-6447
                ISSN (Electronic): 2090-6455
                Publication date Collection: 2024
                Publication date (Electronic): 18 March 2024
                Volume: 2024
                Electronic Location Identifier: 2251450
                Affiliations
                1Department of Dental, Oral and Maxillofacial Surgery, Faculty of Dental Medicine, Medical University-Sofia, Sofia, Bulgaria
                2Department of Pathology, Medical University-Sofia, Sofia, Bulgaria
                3Department of Prosthetic Dental Medicine, Faculty of Dental Medicine, Medical University-Sofia, Sofia, Bulgaria
                4Department of Conservative Dentistry, Faculty of Dental Medicine, Medical University-Sofia, Sofia, Bulgaria
                Author notes

                Academic Editor: Kevin Seymour

                Author information
                https://orcid.org/0000-0002-2356-9932
                https://orcid.org/0000-0002-8136-6578
                https://orcid.org/0000-0002-0185-9912
                Article
                DOI: 10.1155/2024/2251450
                PMC ID: 10963102
                PubMed ID: 38528955
                SO-VID: 1614b7a9-4003-4c86-bd26-331d3000808e
                Copyright © Copyright © 2024 E. Deliverska et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 17 December 2023
                Date revision received : 28 February 2024
                Date accepted : 29 February 2024
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dentistry
                Data availability:
                ScienceOpen disciplines: Dentistry

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