White Sponge Nevus: A Case Report

Assistant Professor, Department of Oral and Maxillofacial Pathology, Faculty of Dentistry, Tabriz University of Medical Sciences, Tabriz, Iran.
Journal of dental research, dental clinics, dental prospects 06/2009; 3(2):70-2. DOI: 10.5681/joddd.2009.017
Source: PubMed


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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    ABSTRACT: White sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling. Sequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq). Construction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced. Our results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process.
    Orphanet Journal of Rare Diseases 12/2015; 10(1). DOI:10.1186/s13023-015-0285-y · 3.36 Impact Factor


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