White Sponge Nevus

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/white-sponge-nevus

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.

genetic conditions

1. Introduction

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.

2. Frequency

The exact prevalence of white sponge nevus is unknown, but it is estimated to affect less than 1 in 200,000 individuals worldwide.

3. Causes

Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. The keratin 4 protein (produced from the KRT4 gene) and the keratin 13 protein (produced from the KRT13 gene) partner together to form molecules known as intermediate filaments. These filaments assemble into networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses.

Mutations in the KRT4 or KRT13 gene disrupt the structure of the keratin protein. As a result, keratin 4 and keratin 13 are mismatched and do not fit together properly, leading to the formation of irregular intermediate filaments that are easily damaged with little friction or trauma. Fragile intermediate filaments in the oral mucosa might be damaged when eating or brushing one's teeth. Damage to intermediate filaments leads to inflammation and promotes the abnormal growth and division (proliferation) of epithelial cells, causing the mucosae to thicken and resulting in white sponge nevus.

4. Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell can be sufficient to cause the disorder. However, some people who have a mutation that causes white sponge nevus do not develop these abnormal growths; this phenomenon is called reduced penetrance.

5. Other Names for This Condition

Cannon's disease
familial white folded mucosal dysplasia
hereditary leukokeratosis
hereditary mucosal leukokeratosis
hereditary oral keratosis
leukokeratosis of oral mucosa
leukokeratosis, hereditary mucosal
nevus of Cannon
white folded gingivostomatosis
white gingivostomatitis
white sponge naevus
white sponge nevus of Cannon
white sponge nevus of mucosa
WSN

References

Aghbali A, Pouralibaba F, Eslami H, Pakdel F, Jamali Z. White sponge nevus: a case report. J Dent Res Dent Clin Dent Prospects. 2009 Spring;3(2):70-2. doi:10.5681/joddd.2009.017.
Kimura M, Nagao T, Machida J, Warnakulasuriya S. Mutation of keratin 4 genecausing white sponge nevus in a Japanese family. Int J Oral Maxillofac Surg. 2013May;42(5):615-8. doi: 10.1016/j.ijom.2012.10.030.
Marrelli M, Tatullo M, Dipalma G, Inchingolo F. Oral infection byStaphylococcus aureus in patients affected by White Sponge Nevus: a descriptionof two cases occurred in the same family. Int J Med Sci. 2012;9(1):47-50.
Martelli H Jr, Pereira SM, Rocha TM, Nogueira dos Santos PL, Batista de Paula AM, Bonan PR. White sponge nevus: report of a three-generation family. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan;103(1):43-7.
Nishizawa A, Nakajima R, Nakano H, Sawamura D, Takayama K, Satoh T, YokozekiH. A de novo missense mutation in the keratin 13 gene in oral white spongenaevus. Br J Dermatol. 2008 Sep;159(4):974-5. doi:10.1111/j.1365-2133.2008.08716.x.
Rugg E, Magee G, Wilson N, Brandrup F, Hamburger J, Lane E. Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. Oral Dis. 1999 Oct;5(4):321-4.
Shibuya Y, Zhang J, Yokoo S, Umeda M, Komori T. Constitutional mutation ofkeratin 13 gene in familial white sponge nevus. Oral Surg Oral Med Oral PatholOral Radiol Endod. 2003 Nov;96(5):561-5.
Songu M, Adibelli H, Diniz G. White sponge nevus: clinical suspicion anddiagnosis. Pediatr Dermatol. 2012 Jul-Aug;29(4):495-7. doi:10.1111/j.1525-1470.2011.01414.x.
Zhang JM, Yang ZW, Chen RY, Gao P, Zhang YR, Zhang LF. Two new mutations inthe keratin 4 gene causing oral white sponge nevus in Chinese family. Oral Dis.2009 Jan;15(1):100-5. doi: 10.1111/j.1601-0825.2008.01498.x.

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Subjects: Genetics & Heredity

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Bruce Ren

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1 The genes associated with White sponge nevus

4. Inheritance

5. Other Names for This Condition

References