White sponge nevus: Difference between revisions

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{{Infobox medical condition (new)
{{SI}}
| name            =  
{{Infobox medical condition
| synonyms        = '''White sponge naevus''', '''Cannon's disease''', '''Hereditary leukokeratosis of mucosa''', '''White sponge nevus of Cannon''', '''Familial white folded dysplasia''',<ref name=omim>{{OMIM|193900}}</ref><ref name="Bolognia">{{cite book |author1=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=709, 734, 738, 740 |isbn=978-1-4160-2999-1 |oclc= |doi= |accessdate=}}</ref> or '''Oral epithelial nevus'''<ref name="Soames 1999">{{cite book|last=Soames|first=JV|title=Oral pathology|year=1999|publisher=Oxford Univ. Press|location=Oxford [u.a.]|isbn=978-0192628947|pages=141|edition=3rd|author2=Southam, J.C. }}</ref>
| name            = White sponge nevus
| image          = Autosomal dominant - en.svg
| image          = [[File:Autosomal_dominant_-_en.svg|200px]]
| caption        = White sponge nevus has an autosomal dominant pattern of inheritance.
| caption        = [[Autosomal dominant]] pattern of inheritance
| pronounce      =  
| synonyms        = Cannon's disease, Familial white folded dysplasia
| field          =  
| field          = [[Oral medicine]]
| symptoms        =  
| symptoms        = White, spongy, thickened patches on the [[oral mucosa]]
| complications  =  
| complications  = None
| onset          =  
| onset          = Birth or early childhood
| duration        =  
| duration        = Lifelong
| types          =
| causes          = [[Genetic mutation]] in [[KRT4]] or [[KRT13]]
| causes          =  
| risks          = [[Family history]]
| risks          =  
| diagnosis      = [[Clinical examination]], [[biopsy]], [[genetic testing]]
| diagnosis      =  
| differential    = [[Leukoplakia]], [[Oral lichen planus]], [[Candidiasis]]
| differential    =  
| treatment      = Usually not required
| prevention      =
| medication      = None
| treatment      =  
| prognosis      = Excellent
| medication      =  
| frequency      = Rare
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
<!-- previous ICD10 was listed as D10, typed white sponge nevus into ICD10 search and got Q38.6
{{Short description|A genetic condition affecting the mucous membranes}}
... -->
'''White sponge nevus''' (WSN) is a rare genetic disorder characterized by the presence of white, spongy plaques on the mucous membranes, primarily affecting the [[oral cavity]]. It is a benign condition that typically presents in childhood or adolescence.
'''White sponge nevus''' WSN, is an [[autosome|autosomal]] [[Dominance (genetics)|dominant]]<ref name="pmid11379896"/> condition of the [[oral mucosa]] (the [[mucous membrane]] lining of the mouth). It is caused by a mutations in certain genes coding for [[keratin]], which causes a defect in the normal process of [[keratinization]] of the mucosa. This results in lesions which are thick, white and velvety on the inside of the cheeks within the mouth. Usually, these lesions are present from birth or develop during childhood. The condition is entirely harmless, and no treatment is required.
==Etiology==
 
White sponge nevus is caused by mutations in the [[keratin]] genes, specifically [[KRT4]] and [[KRT13]], which are responsible for the structural integrity of epithelial cells in the mucous membranes. The condition follows an [[autosomal dominant]] pattern of inheritance, meaning that a single copy of the mutated gene from an affected parent can cause the disorder in offspring.
==Signs and symptoms==
==Clinical presentation==
It presents itself in the [[mouth]], most frequently as a thick, bilateral, symmetrical white [[Plaque (dermatology)#Primary lesions|plaques]] with a spongy, corrugated or velvety texture. Most usually, the lesions are on the buccal mucosa, but sometimes on the labial mucosa, [[alveolar ridge]], floor of the mouth, ventral surface of the tongue or soft palate. The [[gingival margin]] and dorsum of the tongue are almost never affected. Less commonly, sites outside the mouth are affected, including the [[nasal cavity|nasal]], [[esophagus|esophageal]], [[larynx|laryngeal]], anal and genital mucosae.<ref name="OMF pathology textbook" /> It usually is present from birth, or develops during childhood. Rarely, the lesions may develop during adolescence. Apart from the appearance of the affected areas, there are usually no other signs or symptoms.<ref name="OMF pathology textbook" />
The most common manifestation of white sponge nevus is the appearance of white, thickened, and spongy plaques on the [[buccal mucosa]], although other areas such as the [[gingiva]], [[tongue]], and [[floor of the mouth]] may also be involved. These lesions are usually asymptomatic, but some patients may experience mild irritation or discomfort.
 
==Pathophysiology==
 
WSN is caused by a mutation of the [[keratin 4]] or [[keratin 13]] genes,<ref name="pmid11379896">{{cite journal  |vauthors=Terrinoni A, Rugg EL, Lane EB, etal |title=A novel mutation in the keratin 13 gene causing oral white sponge nevus |journal=J. Dent. Res. |volume=80 |issue=3 |pages=919–923 |date=Mar 2001 |pmid=11379896 |doi= 10.1177/00220345010800031401}}</ref><ref name="pmid16858417">{{cite journal |vauthors=McGowan KA, Fuchs H, Hrabé de Angelis M, Barsh GS |title=Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus |journal=J. Invest. Dermatol. |volume=127 |issue=1 |pages=60–64 |date=Jan 2007 |pmid=16858417 |doi=10.1038/sj.jid.5700498}}</ref> located respectively at human [[chromosome]]s [[chromosome 12 (human)|12q13]]<ref>{{OMIM|123940}}</ref> and [[chromosome 17 (human)|17q21-q22]].<ref>{{OMIM|148065}}</ref> The condition is inherited in an autosomal dominant manner.<ref name="pmid11379896"/> This indicates that the defective gene responsible for a disorder is located on an [[autosome]] (chromosomes 12 and 17 are autosomes), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
 
==Diagnosis==
==Diagnosis==
it is often mistaken for [[leukoplakia]].
Diagnosis of white sponge nevus is primarily clinical, based on the characteristic appearance of the lesions. A [[biopsy]] may be performed to confirm the diagnosis, revealing hyperparakeratosis and acanthosis of the epithelium. Genetic testing can identify mutations in the KRT4 or KRT13 genes, providing a definitive diagnosis.
===Classification===
==Management==
The [[ICD-10]] lists WSN under "other congenital malformations of mouth". It could be classified as a [[skin disease|skin condition]],<ref name="Andrews">{{cite book |author1=James, William D. |author2=Berger, Timothy G. |title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |isbn=978-0-7216-2921-6 |oclc= |doi= |page=807|display-authors=etal}}</ref> or more precisely as a [[genodermatosis]] (a genetically determined skin disorder).<ref name="OMF pathology textbook">{{cite book|last=Bouquot|first=Brad W. Neville, Douglas D. Damm, Carl M. Allen, Jerry E.|title=Oral & maxillofacial pathology|year=2002|publisher=W.B. Saunders|location=Philadelphia|isbn=978-0721690032|pages=645–646|edition=2.}}</ref>
There is no specific treatment required for white sponge nevus, as it is a benign condition. Management focuses on reassurance and monitoring for any changes in the lesions. In cases where the lesions cause significant discomfort, topical treatments or surgical removal may be considered.
 
==Prognosis==
==Treatment ==
The prognosis for individuals with white sponge nevus is excellent, as the condition does not predispose to malignancy or other serious complications. The lesions typically persist throughout life but do not usually cause significant health issues.
There is no treatment, but because this is a benign condition with no serious clinical complications, prognosis is excellent.
==See also==
 
* [[Oral mucosa]]
== See also ==
* [[Genetic disorder]]
* [[Oral melanosis]]
* [[Keratin]]
* [[List of cutaneous conditions caused by mutations in keratins]]
* [[Hereditary benign intraepithelial dyskeratosis]]
 
== References  ==
{{Reflist}}
 
== External links ==
{{Medical resources
|  DiseasesDB    = 33866
|  ICD10          = {{ICD10|Q|38|6|LinkGroup|LinkMajor}} ([[ILDS]] D10.310)
|  ICD9          = {{ICD9|750.26}}
|  ICDO          = 
|  OMIM          = 193900
|  MedlinePlus    = 
|  eMedicineSubj  = 
|  eMedicineTopic = 
|  MeshID        =
}}
*{{RareDiseases|8501|White sponge nevus of cannon; Leukokeratosis, hereditary mucosal}}
 
{{oral pathology}}
{{Cytoskeletal defects}}


[[Category:Conditions of the mucous membranes]]
[[Category:Genetic disorders]]
[[Category:Oral neoplasia]]
[[Category:Dermatology]]
[[Category:Autosomal dominant disorders]]
[[Category:Rare diseases]]
[[Category:Cytoskeletal defects]]

Latest revision as of 18:11, 12 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
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White sponge nevus
Synonyms Cannon's disease, Familial white folded dysplasia
Pronounce N/A
Specialty N/A
Symptoms White, spongy, thickened patches on the oral mucosa
Complications None
Onset Birth or early childhood
Duration Lifelong
Types N/A
Causes Genetic mutation in KRT4 or KRT13
Risks Family history
Diagnosis Clinical examination, biopsy, genetic testing
Differential diagnosis Leukoplakia, Oral lichen planus, Candidiasis
Prevention N/A
Treatment Usually not required
Medication None
Prognosis Excellent
Frequency Rare
Deaths N/A


A genetic condition affecting the mucous membranes


White sponge nevus (WSN) is a rare genetic disorder characterized by the presence of white, spongy plaques on the mucous membranes, primarily affecting the oral cavity. It is a benign condition that typically presents in childhood or adolescence.

Etiology[edit]

White sponge nevus is caused by mutations in the keratin genes, specifically KRT4 and KRT13, which are responsible for the structural integrity of epithelial cells in the mucous membranes. The condition follows an autosomal dominant pattern of inheritance, meaning that a single copy of the mutated gene from an affected parent can cause the disorder in offspring.

Clinical presentation[edit]

The most common manifestation of white sponge nevus is the appearance of white, thickened, and spongy plaques on the buccal mucosa, although other areas such as the gingiva, tongue, and floor of the mouth may also be involved. These lesions are usually asymptomatic, but some patients may experience mild irritation or discomfort.

Diagnosis[edit]

Diagnosis of white sponge nevus is primarily clinical, based on the characteristic appearance of the lesions. A biopsy may be performed to confirm the diagnosis, revealing hyperparakeratosis and acanthosis of the epithelium. Genetic testing can identify mutations in the KRT4 or KRT13 genes, providing a definitive diagnosis.

Management[edit]

There is no specific treatment required for white sponge nevus, as it is a benign condition. Management focuses on reassurance and monitoring for any changes in the lesions. In cases where the lesions cause significant discomfort, topical treatments or surgical removal may be considered.

Prognosis[edit]

The prognosis for individuals with white sponge nevus is excellent, as the condition does not predispose to malignancy or other serious complications. The lesions typically persist throughout life but do not usually cause significant health issues.

See also[edit]

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