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white sponge nevus 1
Description
White Sponge Nevus: A Rare Skin Disorder
White sponge nevus (WSN) is a rare autosomal dominant skin disorder characterized by the formation of white patches of tissue called nevi on the mucous membranes. These nevi are caused by a noncancerous (benign) overgrowth of cells [1].
Key Features:
- Bilateral and symmetrical lesions: WSN typically presents as bilateral, sometimes symmetrical, soft white raised lesions on the mucous membranes [3].
- Soft and spongy texture: The surface of these lesions may appear folded and feels soft and spongy to the touch [3].
- Asymptomatic: WSN is usually asymptomatic, meaning it does not cause any discomfort or pain [4].
Causes and Genetics:
- Genetic mutation: WSN is caused by one or more mutations in genes coding for keratinization, a process that helps to harden skin cells [5].
- Autosomal dominant inheritance: WSN is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition [2].
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5
Additional Characteristics
- Asymptomatic
- White patches of tissue on mucous membranes
- Soft and spongy texture to the touch
- Bilateral, sometimes symmetrical lesions
- Caused by genetic mutation in keratinization genes
Signs and Symptoms
White Sponge Nevus Signs and Symptoms
White sponge nevus (WSN) typically presents in the mouth, characterized by thickened, bilateral, symmetrical white plaques with a spongy, corrugated or velvety texture [3]. These lesions may be evident at birth or early in childhood, but occasionally appear in the second decade [6].
The oral mucosa is often affected, appearing as white or gray diffuse plaques thickened with multiple furrows and a spongy texture [8]. The symptoms are usually asymptomatic, meaning they do not cause any discomfort or pain.
It's essential to note that WSN can be confused with other conditions such as oral leukoplakia, pachyonychia congenita, dyskeratosis congenita, cheek biting, and chemical burns [2]. A proper diagnosis by a healthcare professional is necessary to rule out these differential diagnoses.
Additional Symptoms
- thickened, bilateral, symmetrical white plaques
- spongy, corrugated or velvety texture
- white or gray diffuse plaques thickened with multiple furrows and a spongy texture
Diagnostic Tests
Based on the provided context, here's an informative response regarding diagnostic tests for White Sponge Nevus (WSN):
Diagnosing White Sponge Nevus
The diagnosis of White Sponge Nevus (WSN) is often based solely on its distinct clinical presentation and subsequent biopsy of mucosal lesions. According to [6], the diagnosis is usually made through a combination of these methods.
- Clinical Presentation: The condition's characteristic white or greyish, thickened, folded, and spongy appearance in the oral mucosa is a key diagnostic feature [7].
- Biopsy: A biopsy of the affected tissue can confirm the presence of WSN. This involves taking a small sample of tissue from the affected area for examination under a microscope [4].
Differential Diagnosis
It's essential to rule out other conditions that may present similarly, such as candidiasis, leukoderma, leukoplakia, lichen planus, and local irritation. A biopsy can help differentiate WSN from these conditions [5].
- Candidiasis: This fungal infection can be excluded through microbiological swabs, which typically show the presence of Candida species [2].
- Other Conditions: A thorough examination and biopsy can help rule out other potential causes of white oral lesions.
References
[1] - Not applicable (initial query) [2] Most commonly white sponge naevus is misdiagnosed as oral candidiasis (thrush) but this can be excluded on microbiological swabs, failure to respond to ... [4] by M Songu ยท 2011 ยท Cited by 42 โ The differential diagnosis of the lesion may be difficult and it is best diagnosed by biopsy. [5] The clinical differential diagnosis of white sponge nevus includes candidiasis, leukoderma, leukoplakia, lichen planus, and local irritation. It is sometimes ... [7] 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. [9] by E Deliverska โ Therefore, the diagnosis of white sponge nevus is often based solely on the clear clinical presentation and subsequent biopsy of mucosal lesions ...
Additional Diagnostic Tests
- Biopsy
- Clinical Presentation
- Microbiological Swabs
Treatment
Treatment Options for White Sponge Nevus
White sponge nevus (WSN) is a rare condition characterized by the presence of soft, white, and "spongy" plaques in the oral cavity. While it is generally considered harmless, some individuals may experience over-growth or imbalance of the oral microbiota, which can lead to the need for antibiotic and/or antifungal treatment [6].
Topical Treatments
Several topical treatments have been reported to be effective in treating WSN:
- Topical triamcinolone acetonide (0.1%) and retinoic acid (0.1%) in oral adhesive excipient resulted in no clinical improvement [1].
- Successful treatment with topical tetracycline has been reported, particularly in cases where the patient also had systemic lupus erythematosus [9].
Oral Antibiotics
In some cases, oral antibiotics may be necessary to treat WSN:
- Tetracycline mouthwash (0.25% aqueous solution) or orally administered tetracycline (initially 250mg, four times a day) have been used to treat WSN [5].
Penicillin Treatment
There is one reported case of successful treatment with penicillin administration, which resulted in definite improvement [2]. However, this is an isolated case and more research is needed to confirm the efficacy of penicillin in treating WSN.
It's worth noting that the mechanism behind the regression of WSN under antibiotic treatment is not clear.
Recommended Medications
- Topical triamcinolone acetonide
- tetracycline
- Tetracycline
- penicillin
- Penicillin
- retinoic acid
๐ Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of White Sponge Nevus
White sponge nevus, also known as Cannon's disease, is a benign heritable process that presents as white lesions on the oral mucosa. The differential diagnosis of this condition includes several other conditions that may present with similar symptoms.
Conditions to Consider:
- Leukoedema: A congenital disorder characterized by a white or grayish discoloration of the buccal mucosa.
- Follicular keratosis: A benign growth on the skin or mucous membranes that can appear as small, white bumps.
- Dyskeratosis congenita: A rare genetic disorder that affects the development of skin and mucous membrane cells.
- Hereditary benign intraepithelial dyskeratosis: A condition characterized by abnormal cell growth in the epithelium.
- Oral lesions of pachyonychia congenita: A rare genetic disorder that affects the development of skin and mucous membranes.
Other Conditions to Consider:
- Oral leukoplakia: A white patch or plaque on the oral mucosa that can be a precursor to cancer.
- Pachyonychia congenita: A rare genetic disorder that affects the development of skin and mucous membranes.
- Dyskeratosis congenita: A rare genetic disorder that affects the development of skin and mucous membrane cells.
- Cheek biting (morsicatio buccarum): A condition characterized by chronic cheek biting, which can cause white lesions on the oral mucosa.
- Chemical burn: A burn caused by exposure to a chemical substance, which can appear as a white lesion on the oral mucosa.
- Syphilis: A bacterial infection that can cause a variety of symptoms, including white lesions on the oral mucosa.
- Lichen planus: An autoimmune disease that affects the skin and mucous membranes, causing white lesions.
References:
- [1] The differential diagnosis of oral white sponge nevus in childhood is made with other conditions presenting as white lesions on the oral mucosa. These include other congenital disorders such as leukoedema, follicular keratosis, dyskeratosis congenita, hereditary benign intraepithelial dyskeratosis, and oral lesions of pachyonychia congenita.
- [5] The differential diagnosis of oral white sponge nevus in childhood is made with other conditions presenting as white lesions on the oral mucosa.
- [7] The differential diagnosis of white sponge nevus includes oral leukoplakia, pachyonychia congenita, dyskeratosis congenita, cheek biting (morsicatio buccarum), chemical burn, syphilis, and lichen planus.
Additional Differential Diagnoses
- Follicular keratosis
- Leukoedema
- Oral leukoplakia
- Hereditary benign intraepithelial dyskeratosis
- Oral lesions of pachyonychia congenita
- Cheek biting (morsicatio buccarum)
- Chemical burn
- pachyonychia congenita
- dyskeratosis congenita
- syphilis
- lichen planus
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_4112
- owl#annotatedSource
- t362006
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0081287
- core#notation
- DOID:0081287
- oboInOwl#hasDbXref
- MIM:193900
- IAO_0000115
- A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.
- rdf-schema#label
- white sponge nevus 1
- rdf-schema#subClassOf
- t362089
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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