Disease ID | Source | Name | Description |
193900 | OMIM | White sponge nevus 1 (WSN1) | A rare disorder 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. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. The disease is caused by variants affecting the gene represented in this entry. |