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      Oral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood

      case-report

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          Abstract

          White sponge nevus is an autosomal dominant skin disorder characterized by white, irregular, diffuse plaques mainly affecting the oral mucosa. Histological findings of white sponge nevus are characteristic but not pathognomonic. We report a case of an oral white sponge nevus in a 6-year-old girl, which poses a problem in differential diagnosis with oral candidiasis. No treatment was performed because of the benign and asymptomatic nature of the lesions.

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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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            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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              Mutational analysis in familial and sporadic patients with white sponge naevus.

              X. Liu, Q. Li, Y. Gao … (2011)
              Article 0 comments Cited 4 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Fatima zahra Elfatoiki:
                ORCID: https://orcid.org/0000-0002-9475-2785
                Journal
                Journal ID (nlm-ta): Case Rep Dermatol Med
                Journal ID (iso-abbrev): Case Rep Dermatol Med
                Journal ID (publisher-id): CRIDM
                Title: Case Reports in Dermatological Medicine
                Publisher: Hindawi
                ISSN (Print): 2090-6463
                ISSN (Electronic): 2090-6471
                Publication date Collection: 2020
                Publication date (Electronic): 26 August 2020
                Volume: 2020
                Electronic Location Identifier: 9296768
                Affiliations
                Department of Dermatology, Ibn Rochd UHC, 1 Quartier des Hopitaux 20000, Casablanca, Morocco
                Author notes

                Academic Editor: Tak-Wah Wong

                Author information
                https://orcid.org/0000-0002-9475-2785
                Article
                DOI: 10.1155/2020/9296768
                PMC ID: 7471808
                PubMed ID: 32908720
                SO-VID: f2b68511-47e1-4902-86f4-c7e8f9e48a2f
                Copyright © Copyright © 2020 Fatima zahra Elfatoiki 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 : 26 January 2020
                Date revision received : 15 July 2020
                Date accepted : 1 August 2020
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dermatology
                Data availability:
                ScienceOpen disciplines: Dermatology

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