Current approaches to the diagnosis and treatment of white sponge nevus

Abstract

White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.

Keratin 4 regulates the development of human white sponge nevus

“…This may be caused by a frameshift mutation of KRT4 gene, and thus, KRT4 protein expression was higher and the structure was abended, either of these might cause compensatory regulation. Furthermore, the keratin tonofilament fractured inside the spinous cell layer, leading to bubble cells, epithelium hypertrophy, and parakeratosis, which are similar with clinical WSN symptoms …”

“…Furthermore, the keratin tonofilament fractured inside the spinous cell layer, leading to bubble cells, epithelium hypertrophy, and parakeratosis, which are similar with clinical WSN symptoms. 20,21 As to observe the ultrastructure of 2-month-old mice, tonofilaments in the epithelium pathologically increased, aggregated in the cytoplasm, and compressed the nucleus, which made them deformed and degenerated, and therefore, most of organelles disappeared. At the desmosome conjunction, the Odland bodies abnormally increased and were closely connected with tonofibrils, replacing normal F I G U R E 5 Ultrastructure observation of oral mucosa epithelium using transmission electron microscope.…”

White sponge nevus: Report of three cases in a single family

“…[ 14 ] Recently, with the report of new cases of WSN with associated mutations, gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for the treatment of other keratin-associated diseases. [ 15 ]…”

An Autosomal Genetic Disease: White Sponge Nevus

“…It shows no gender or race predilection; however, because of this situation's autosomal dominant pattern of this transmission, various family members may reveal the disorder. 2,6…”

“…The suitable diagnosis and treatment of this rare disease will demand the combination of clinical history, clinical examination and histopathologic findings. 6…”