White sponge nevus is a rare, benign inherited condition in which thickened, velvety, sponge-like white patches form on the moist lining of the body, most often on the inside of the cheeks. Several patches usually appear, and they can also occur, rarely, in the nose, esophagus, genitals or anus. The patches are caused by a noncancerous overgrowth of epithelial cells and may be present from birth, though they usually first appear in early childhood and can change in size and place over time. They are generally painless, but folds of extra tissue can encourage bacterial growth and infection, and the altered look and texture bothers some people. Variants in the KRT4 or KRT13 gene make keratin proteins that fit together poorly, so the mucosal filaments are easily damaged. The condition is inherited in an autosomal dominant pattern with reduced penetrance and is estimated to affect fewer than 1 in 200,000 people worldwide.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. White sponge nevus (MedlinePlus Genetics page)
Description, first paragraph
The nevi are most commonly found on the moist lining of the mouth
Causes
Mutations in the KRT4 or KRT13 gene cause white sponge nevus.
Inheritance
This condition is inherited in an autosomal dominant pattern
View the Source2. Orphanet (Orphadata): Orphadata: Rare diseases with ICD-10 and ICD-11 mappings (en_product1)
Orphanet (Orphadata)Orphanet entry ORPHA:171723, Validated ICD-10 mappingQuote, Orphanet entry ORPHA:171723, Validated ICD-10 mapping
ICD-10 Q38.6
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