O nevo esponjoso branco (WSN) é uma doença genética rara e autossômica dominante em que a mucosa oral é branca ou acinzentada, espessada, dobrada e esponjosa. O início é precoce na vida e ambos os sexos são afetados igualmente. Outros locais comuns incluem língua, assoalho da boca e mucosa alveolar.
Introdução
O que você precisa saber de cara
O nevo esponjoso branco (WSN) é uma doença genética rara e autossômica dominante em que a mucosa oral é branca ou acinzentada, espessada, dobrada e esponjosa. O início é precoce na vida e ambos os sexos são afetados igualmente. Outros locais comuns incluem língua, assoalho da boca e mucosa alveolar.
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 3 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
Type 1 keratin (Probable). Maintains postnatal tongue mucosal cell homeostasis and tissue organization in response to mechanical stress, potentially via regulation of the G1/S phase cyclins CCNE1 and CCNE2 (By similarity)
White sponge nevus 2
A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.
White sponge nevus 1
A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.
Variantes genéticas (ClinVar)
17 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 142 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Nevo branco esponjoso
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Oral White Sponge Nevus: A Rare Case Report.
White sponge nevus (WSN) is a rare, benign genetic disorder characterized by distinctive white or gray mucosal lesions, most commonly affecting the oral cavity. Inherited in an autosomal dominant pattern, WSN results from mutations in keratin genes-primarily KRT4 and KRT13. These mutations lead to the development of thick, spongy plaques in the oral mucosa, with extraoral involvement more commonly associated with KRT13 mutations. The condition typically manifests in early childhood, presenting as painless, persistent white plaques. Diagnosis is usually based on clinical evaluation, although histopathological examination can provide confirmation. WSN is generally asymptomatic and does not require treatment; however, its cosmetic appearance may cause psychological discomfort. Although malignant transformation is rare, certain antimicrobial therapies have shown promise in symptom management. This report describes a case of WSN in a 23-year-old Iranian woman, detailing the clinical presentation, diagnostic process, and potential treatment strategies. Despite its benign nature, further research into the pathogenesis and therapeutic options is essential to improve patient care and quality of life.
Erratum: Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
The Figures were published in the incorrect order with incorrect captions. Below are the corrected versions. Reference: Karolina Spodzieja, Piotr Sobiech, Dorota Olczak-Kowalczyk. Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study. Am J Case Rep 2024; 25:e944795. DOI: 10.12659/AJCR.944795.
Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
BACKGROUND White sponge nevus (WSN) is rare, hereditary oral mucosa disorder. This condition usually presents as asymptomatic white coatings on mucous membranes that vary in intensity and thickness. Changes are usually observed on the oral cavity mucosa, and other mucosal sites of involvement include nasal, esophageal, and anogenital. In most cases this condition is considered benign since the plaques cause no pain, with no risk of malignant transformation. Thorough clinical and histopathological examination is indicated to exclude other similar conditions and to avoid unnecessary treatment. CASE REPORT We present a new case of white sponge nevus in a 13-year-old Polish girl with history of familial involvement. The patient had been treated with low-dosage tetracycline rinse (0.25%) for 3 months, and slight reduction in lesions was observed. Laser, ablation was performed with a CO₂ laser, the lesions recurred after half a year. It is the first published case report of WSN lesions on the oral mucosa treated with CO₂ laser. The patient remains under observation. CONCLUSIONS Because therapeutic options recommended in the literature provide only partial improvement or are unsuccessful, further research is still needed to develop treatment methods for patients with WSN. CO₂ laser ablation, although promising, cannot be regarded as an effective treatment method for white sponge nevus.
Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.
White Sponge Nevus (WSN) is traditionally considered a benign genetic disorder affecting the oral mucosa, primarily caused by pathogenic mutations in keratin 4 (KRT4) or keratin 13 (KRT13). Despite its benign nature, recent evidence has begun to question the malignant potential of WSN. We report a case involving a 70-year-old man who presented with a white lesion on the right floor of his mouth. Initial diagnostic evaluations confirmed the lesion as WSN. Over a one-year follow-up, the lesion underwent malignant transformation, evolving into local epithelial moderate-to-severe dysplasia. Exome sequencing identified a novel insertion mutation in exon 1 of the KRT4 gene, resulting in a deletion-insertion amino acid mutation involving glycine. Single-cell RNA sequencing further revealed altered epithelial proliferation and differentiation dynamics within the lesion. This case not only expands the known genetic spectrum of KRT4 mutations associated with WSN but also provides preliminary evidence suggesting the malignant potential of WSN. The novel pathogenic mutation in KRT4 is postulated to alter epithelial proliferation and differentiation, thereby raising concerns about the malignant transformation of WSN. Further studies are warranted to confirm these findings.
A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.
White sponge nevus is a rare genetic autosomal dominant disorder characterized by irregular patches of thick, white diffuse plaques, which mainly affects the oral mucosa and, very rarely, the skin or mucosa of the nose, esophagus, and anogenital region. We present a case of oral white sponge nevus in a 62-year-old woman, the differential diagnosis of which was of particular interest due to other similar white oral lesions, some of which are potentially malignant. The lesions were verified histologically. However, no treatment was performed due to the benign and asymptomatic nature of the lesions.
Publicações recentes
Oral White Sponge Nevus: A Rare Case Report.
Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
[Translated article] Extensive White Sponge Nevus.
Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.
📚 EuropePMC113 artigos no totalmostrando 35
Oral White Sponge Nevus: A Rare Case Report.
Clinical case reportsInnovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
The American journal of case reports[Translated article] Extensive White Sponge Nevus.
Actas dermo-sifiliograficasMalignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.
BMC oral healthFamiliar white sponge nevus.
Anais brasileiros de dermatologiaA Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.
Case reports in dentistryNon-familial White Sponge Nevus, an Innocuous yet Clinically Significant Entity: Report of a Case with Review of the Literature.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaWhite sponge nevus of the oral cavity: Affecting members of two generations in a family.
Clinical case reportsExfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series.
Bioengineering (Basel, Switzerland)A Case Report on Familial White Sponge Nevus in Saudi Arabia.
CureusWhite Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.
GenesA Bilateral Whitish Lesion on the Mucosa of the Cheek.
The Journal of pediatricsCase of penile white sponge nevus repeatedly treated as genital wart.
Sexually transmitted infectionsPhenotypic reflection of white sponge nevus in histomorphological features of oral squamous cell carcinoma.
Oral oncologyA Case of Non-hereditary White Sponge Nevus in the Oral Cavity Successfully Treated with Tetracycline Ointment and Oral Multivitamins.
Journal of UOEHWhite Sponge Nevus of Glans Penis.
Journal of cutaneous medicine and surgerySuccessful Treatment of White Sponge Nevus With Oral Doxycycline: A Case Report and Review of the Literature.
Actas dermo-sifiliograficasOral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood.
Case reports in dermatological medicineKeratin 13 deficiency causes white sponge nevus in mice.
Developmental biologyWhite sponge nevus in a three-year-old boy: A case report.
Pediatrics international : official journal of the Japan Pediatric SocietyWhite sponge nevus: A condition not always clinically suspected.
Journal of cutaneous pathologyThe molecular-based differentiation of Heck's disease from its mimics including oral condyloma and white sponge nevus.
Annals of diagnostic pathologyGenetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Periodontology 2000Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa.
Head and neck pathologyKeratin 4 regulates the development of human white sponge nevus.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyClinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.
Medicina oral, patologia oral y cirugia bucalMutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyWhite Sponge Nevus: Report of a Case and Review of the Literature.
Acta medica IranicaA novel keratin 13 variant in a four-generation family with white sponge nevus.
Clinical case reportsWhite sponge nevus: Report of three cases in a single family.
Journal of oral and maxillofacial pathology : JOMFPWhite lesions in the oral cavity: clinical presentation, diagnosis, and treatment.
Seminars in cutaneous medicine and surgeryFamilial Case of White Sponge Nevus - Diagnosis and Therapeutical Challenges.
Acta dermatovenerologica Croatica : ADCExpression profiling of white sponge nevus by RNA sequencing revealed pathological pathways.
Orphanet journal of rare diseasesCurrent approaches to the diagnosis and treatment of white sponge nevus.
Expert reviews in molecular medicineKeratin 13 mutations associated with oral white sponge nevus in two Chinese families.
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Oral White Sponge Nevus: A Rare Case Report.
- Erratum: Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
- Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
- Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.
- A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.
- [Translated article] Extensive White Sponge Nevus.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:171723(Orphanet)
- MONDO:0015748(MONDO)
- GARD:8501(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q3567797(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
