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Nevo branco esponjoso
ORPHA:171723CID-10 · Q38.6CID-11 · DA02.0DOENÇA RARA

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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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.

Publicações científicas
141 artigos
Último publicado: 2025 Sep
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q38.6
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
1 sintomas
👁️
Olhos
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

Edema
Acantose epidérmica
Hiperparaqueratose
Morfologia anormal da conjuntiva
Leucoplasia oral
5sintomas
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 características clínicas mais associadas, ordenadas por frequência.

Edema
Acantose epidérmicaEpidermal acanthosis
HiperparaqueratoseHyperparakeratosis
Morfologia anormal da conjuntivaAbnormal conjunctiva morphology
Leucoplasia oralOral leukoplakia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico141PubMed
Últimos 10 anos39publicações
Pico20156 papers
Linha do tempo
2025Hoje · 2026📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição.

Autosomal dominant
KRT13Keratin, type I cytoskeletal 13Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
KeratinizationFormation of the cornified envelope
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
34172.6 TPM
Vagina
13147.2 TPM
Bladder
56.4 TPM
Glândula salivar
29.1 TPM
Próstata
19.8 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (2)
white sponge nevus 2hereditary mucosal leukokeratosis
HGNC:6415UniProt:P13646
KRT4Keratin, type II cytoskeletal 4Disease-causing germline mutation(s) inTolerante
LOCALIZAÇÃO

VIAS BIOLÓGICAS (2)
KeratinizationFormation of the cornified envelope
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
21436.6 TPM
Vagina
1375.2 TPM
Pulmão
8.4 TPM
Cervix Ectocervix
8.3 TPM
Próstata
5.9 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (2)
white sponge nevus 1hereditary mucosal leukokeratosis
HGNC:6441UniProt:P19013

Variantes genéticas (ClinVar)

17 variantes patogênicas registradas no ClinVar.

🧬 KRT4: GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) ()
🧬 KRT4: GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 ()
🧬 KRT4: GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 ()
🧬 KRT4: GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 ()
🧬 KRT4: GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 142 variantes classificadas pelo ClinVar.

71
71
VUS (50.0%)
Benigna (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
KRT4: NM_002272.4(KRT4):c.412C>T (p.Arg138Cys) [Uncertain significance]
KRT13: NM_153490.3(KRT13):c.*175G>A [Uncertain significance]
KRT13: NM_153490.3(KRT13):c.823G>A (p.Ala275Thr) [Uncertain significance]
KRT13: NM_153490.3(KRT13):c.853G>A (p.Ala285Thr) [Uncertain significance]
KRT13: NM_153490.3(KRT13):c.523C>G (p.Arg175Gly) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
39 papers (10 anos)
#1

Oral White Sponge Nevus: A Rare Case Report.

Clinical case reports2025 Sep

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.

#2

Erratum: Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.

The American journal of case reports2024 Dec 20

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.

#3

Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.

The American journal of case reports2024 Nov 20

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.

#4

Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.

BMC oral health2024 May 21

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.

#5

A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.

Case reports in dentistry2024

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

Ver todas no PubMed

📚 EuropePMC113 artigos no totalmostrando 35

2025

Oral White Sponge Nevus: A Rare Case Report.

Clinical case reports
2024

Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.

The American journal of case reports
2024

[Translated article] Extensive White Sponge Nevus.

Actas dermo-sifiliograficas
2024

Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.

BMC oral health
2024

Familiar white sponge nevus.

Anais brasileiros de dermatologia
2024

A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.

Case reports in dentistry
2023

Non-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 India
2023

White sponge nevus of the oral cavity: Affecting members of two generations in a family.

Clinical case reports
2023

Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series.

Bioengineering (Basel, Switzerland)
2022

A Case Report on Familial White Sponge Nevus in Saudi Arabia.

Cureus
2022

White Sponge Nevus Caused by Keratin 4 Gene Mutation: A Case Report.

Genes
2022

A Bilateral Whitish Lesion on the Mucosa of the Cheek.

The Journal of pediatrics
2022

Case of penile white sponge nevus repeatedly treated as genital wart.

Sexually transmitted infections
2022

Phenotypic reflection of white sponge nevus in histomorphological features of oral squamous cell carcinoma.

Oral oncology
2021

A Case of Non-hereditary White Sponge Nevus in the Oral Cavity Successfully Treated with Tetracycline Ointment and Oral Multivitamins.

Journal of UOEH
2022

White Sponge Nevus of Glans Penis.

Journal of cutaneous medicine and surgery
2021

Successful Treatment of White Sponge Nevus With Oral Doxycycline: A Case Report and Review of the Literature.

Actas dermo-sifiliograficas
2020

Oral White Sponge Nevus: An Exceptional Differential Diagnosis in Childhood.

Case reports in dermatological medicine
2020

Keratin 13 deficiency causes white sponge nevus in mice.

Developmental biology
2020

White sponge nevus in a three-year-old boy: A case report.

Pediatrics international : official journal of the Japan Pediatric Society
2020

White sponge nevus: A condition not always clinically suspected.

Journal of cutaneous pathology
2019

The molecular-based differentiation of Heck's disease from its mimics including oral condyloma and white sponge nevus.

Annals of diagnostic pathology
2019

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

Periodontology 2000
2019

Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa.

Head and neck pathology
2018

Keratin 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 Pathology
2018

Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.

Medicina oral, patologia oral y cirugia bucal
2018

Mutations 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 Pathology
2017

White Sponge Nevus: Report of a Case and Review of the Literature.

Acta medica Iranica
2017

A novel keratin 13 variant in a four-generation family with white sponge nevus.

Clinical case reports
2016

White sponge nevus: Report of three cases in a single family.

Journal of oral and maxillofacial pathology : JOMFP
2015

White lesions in the oral cavity: clinical presentation, diagnosis, and treatment.

Seminars in cutaneous medicine and surgery
2015

Familial Case of White Sponge Nevus - Diagnosis and Therapeutical Challenges.

Acta dermatovenerologica Croatica : ADC
2015

Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways.

Orphanet journal of rare diseases
2015

Current approaches to the diagnosis and treatment of white sponge nevus.

Expert reviews in molecular medicine
2014

Keratin 13 mutations associated with oral white sponge nevus in two Chinese families.

Meta gene
Ver todos os 113 no EuropePMC

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Oral White Sponge Nevus: A Rare Case Report.
    Clinical case reports· 2025· PMID 40893399mais citado
  2. Erratum: Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
    The American journal of case reports· 2024· PMID 39704005mais citado
  3. Innovative Combination of Tetracycline Rinse and CO₂ Laser Ablation for Treating White Sponge Nevus in Adolescents: A Case Study.
    The American journal of case reports· 2024· PMID 39563015mais citado
  4. Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.
    BMC oral health· 2024· PMID 38773401mais citado
  5. A Rare Clinical Case of Oral White Sponge Nevus and the Associated Challenges in Its Differential Diagnosis.
    Case reports in dentistry· 2024· PMID 38528955mais citado
  6. [Translated article] Extensive White Sponge Nevus.
    Actas Dermosifiliogr· 2024· PMID 39102980recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:171723(Orphanet)
  2. MONDO:0015748(MONDO)
  3. GARD:8501(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Nevo branco esponjoso
Compêndio · Raras BR

Nevo branco esponjoso

ORPHA:171723 · MONDO:0015748
CID-10
Q38.6 · Outras malformações congênitas da boca
CID-11
MedGen
UMLS
C1721005
EuropePMC
Wikidata
Wikipedia
Papers 10a
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