White Sponge Nevus 1 (WSN1)

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Disease Ontology 12 DOID:0050448 OMIM® 57 193900 OMIM Phenotypic Series 57 PS193900 KEGG 36 H00724 MeSH 44 D053529 NCIt 50 C84760 SNOMED-CT 67 85388002

ICD10 via Orphanet 33 Q38.6 UMLS via Orphanet 71 C1721005 Orphanet 58 ORPHA171723 MedGen 41 C1721005 C4011926 SNOMED-CT via HPO 68 263681008 414603003 9187004 UMLS 70 C1721005 C4011926

MedlinePlus Genetics : ⁴³ White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells.White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.

MalaCards based summary : White Sponge Nevus 1, also known as white sponge nevus of cannon, is related to leukoplakia and familial woolly hair syndrome. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. Affiliated tissues include tongue and skin, and related phenotypes are abnormality of metabolism/homeostasis and oral leukoplakia

Disease Ontology : ¹² A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171723 Definition White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.

OMIM® : ⁵⁷ White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995). (193900) (Updated 20-May-2021)

KEGG : ³⁶ White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed in the mucosal non-cornifying stratified epithelia, are associated the disease.

UniProtKB/Swiss-Prot : ⁷² White sponge nevus 1: 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.

Wikipedia : ⁷³ White sponge nevus WSN, is an autosomal dominant condition of the oral mucosa (the mucous membrane... more...

Clinical features from OMIM®:

193900 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for White Sponge Nevus 1

Search GEO for disease gene expression data for White Sponge Nevus 1.