White Sponge Nevus 1 (WSN1)

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MedlinePlus Genetics: ⁴² 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 keratosis. An important gene associated with White Sponge Nevus 1 is KRT4 (Keratin 4), and among its related pathways/superpathways are Nervous system development and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include tongue and skin, and related phenotypes are abnormality of metabolism/homeostasis and oral leukoplakia

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 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ 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.

GARD: ¹⁹ 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.

Orphanet: ⁵⁸ 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.

Disease Ontology: ¹¹ A skin disease characterized by a defect in the normal process of keratinization of the mucosa.

Wikipedia: ⁷⁵ White sponge nevus (WSN) is an autosomal dominant condition of the oral mucosa (the mucous membrane... more...

Clinical features from OMIM®:

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