White sponge nevus
White Sponge Nevus
White sponge nevus (pronounced: /waɪt spʌndʒ 'ni:vəs/), also known as Cannon's disease or familial white folded dysplasia, is a rare, autosomal dominant condition characterized by the formation of white, spongy, folded oral mucosa. The condition is usually benign and primarily affects the oral cavity, although it can also occur in other mucosal sites.
Etymology
The term "nevus" is derived from the Latin word "naevus", which means "birthmark". The term "white sponge" is descriptive of the appearance of the lesions.
Symptoms
The primary symptom of white sponge nevus is the presence of white, spongy lesions in the oral cavity. These lesions are typically asymptomatic, but they may cause discomfort or interfere with eating or speaking in some cases. Other symptoms may include lesions in other mucosal sites, such as the nasal, esophageal, or genital mucosa.
Causes
White sponge nevus is caused by mutations in the Keratin 4 (KRT4) or Keratin 13 (KRT13) genes. These genes provide instructions for making keratin proteins, which are essential for the structure and function of skin cells. Mutations in these genes disrupt the normal formation of keratin, leading to the characteristic white, spongy lesions of white sponge nevus.
Diagnosis
Diagnosis of white sponge nevus is typically based on the characteristic clinical features, such as the presence of white, spongy lesions in the oral cavity. Genetic testing can confirm the diagnosis by identifying mutations in the KRT4 or KRT13 genes.
Treatment
There is currently no cure for white sponge nevus. Treatment is typically focused on managing symptoms and may include the use of topical corticosteroids to reduce inflammation and discomfort.
See Also
References
External links
- Medical encyclopedia article on White sponge nevus
- Wikipedia's article - White sponge nevus
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