RESUMO
Chronic oral mucosal lesions can be associated with several mucocutaneous diseases. This article reviews the autoimmune and immune-mediated, reactive, genetic, and infectious diseases that may present with chronic oral and/or cutaneous manifestations and provides a rational approach to diagnosis and management.
Assuntos
Doenças Autoimunes/terapia , Doenças da Boca/diagnóstico , Doenças da Boca/terapia , Infecções por Papillomavirus/prevenção & controle , Dermatopatias Vesiculobolhosas/terapia , Doenças Autoimunes/diagnóstico , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/terapia , Candidíase Bucal/diagnóstico , Candidíase Bucal/terapia , Doença Crônica , Fibroma/diagnóstico , Doença Enxerto-Hospedeiro/diagnóstico , Doença Enxerto-Hospedeiro/terapia , Humanos , Ceratose/diagnóstico , Ceratose/etiologia , Ceratose/terapia , Leucoceratose da Mucosa Hereditária/diagnóstico , Líquen Plano Bucal/diagnóstico , Líquen Plano Bucal/terapia , Doenças da Boca/imunologia , Dermatopatias Vesiculobolhosas/diagnóstico , Estomatite/diagnóstico , Estomatite/etiologia , Produtos do Tabaco/efeitos adversosRESUMO
White sponge nevus (WSN) is an uncommon benign inherited disorder characterized by white and diffuse painless lesions in oral, esophageal, or genital mucosa. The lesions may develop at birth or later in childhood or adolescence, with careful clinical examination being sufficient for diagnosis in most cases. However, microscopic analysis may be necessary particularly in adults in which other whitish oral lesions may be clinically suspected. Dermatologists, dentists, and pathologists should consider WSN when evaluating multiple white oral lesions, thus preventing unnecessary treatments. Herein, we report four additional cases of WSN with emphasis on its clinical and histopathological features.
Assuntos
Leucoceratose da Mucosa Hereditária , Mucosa Bucal/patologia , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/patologiaRESUMO
BACKGROUND: Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. MATERIAL AND METHODS: Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained for genetic mutational analysis. Polymerase chain reaction was used to amplify all exons within KRT4 and KRT13 genes. These products were sequenced and the data was examined for mutations and polymorphisms. RESULTS: Varying presentation and severity of clinical features were observed. Analysis of the KRT13 gene revealed the sequence variant Y118D as the disease-causing mutation. One patient revealed several previously unreported polymorphisms including a novel mutation in exon 1 of the KRT13 gene and a heterozygous deletion in exon 1 of KRT4. This deletion in the KRT4 gene was found to be a common polymorphism reflecting a high allele frequency of 31.25% in the Turkish population. CONCLUSIONS: Oral WSN may manifest variable clinical features. The novel mutation found in the KRT13 gene is believed to add evidence for a mutational hotspot in the mucosal keratins. Molecular genetic analysis is required to establish correct diagnosis and appropriate genetic consultation.
Assuntos
Queratina-13/genética , Queratina-4/genética , Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Análise Citogenética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Turquia , Adulto JovemRESUMO
White sponge nevus is a rare benign autosomal dominant disorder with variable penetrance. It is characterized by asymptomatic white plaques affecting mainly the oral mucosa. Careful clinical and histopathological examination is indicated to exclude other more serious conditions presenting as oral white lesions. Herein, we present a new case of oral white sponge nevus in a 17-year-old Iranian male with no familial background.
Assuntos
Leucoceratose da Mucosa Hereditária/diagnóstico , Mucosa Bucal/patologia , Adolescente , Diagnóstico Diferencial , Humanos , Irã (Geográfico) , MasculinoAssuntos
Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/genética , Doenças da Boca/diagnóstico , Doenças da Boca/genética , Adolescente , Humanos , Leucoceratose da Mucosa Hereditária/prevenção & controle , Masculino , Doenças da Boca/prevenção & controle , Higiene Bucal , LinhagemRESUMO
White sponge nevus (WSN) in the oral mucosa is a rare autosomal dominant genetic disease. The involved mucosa is white or greyish, thickened, folded and spongy. The genes associated with WSN include mutant cytokeratin keratin 4 (KRT4) and keratin 13 (KRT13). In recent years, new cases of WSN and associated mutations have been reported. Here, we summarise the recent progress in our understanding of WSN, including clinical reports, genetics, animal models, treatment, pathogenic mechanisms and future directions. Gene-based diagnosis and gene therapy for WSN may become available in the near future and could provide a reference and instruction for treating other KRT-associated diseases.
Assuntos
Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/tratamento farmacológico , Animais , Humanos , Leucoceratose da Mucosa Hereditária/genética , Leucoceratose da Mucosa Hereditária/patologia , Mucosa Bucal/patologia , Doenças Raras/diagnóstico , Doenças Raras/tratamento farmacológico , Doenças Raras/genética , Doenças Raras/patologiaAssuntos
Aberrações Cromossômicas , Genes Dominantes/genética , Leucoceratose da Mucosa Hereditária/genética , Doenças Raras , Biópsia , Deleção Cromossômica , Diagnóstico Diferencial , Éxons/genética , Triagem de Portadores Genéticos , Humanos , Lactente , Queratina-4/genética , Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/patologia , Masculino , Mucosa Bucal/patologiaRESUMO
This article provides an overview of common color changes and soft tissue oral nodular abnormalities in children and adolescents. The clinical presentation and treatment options to address these conditions are presented in a concise approach, highlighting key features relevant to the oral health care professional.
Assuntos
Doenças da Boca/diagnóstico , Mucosa Bucal/patologia , Adolescente , Candidíase Bucal/diagnóstico , Criança , Humanos , Leucoedema Bucal/diagnóstico , Leucoceratose da Mucosa Hereditária/diagnóstico , Doenças Labiais/diagnóstico , Doenças da Boca/terapia , Neoplasias Bucais/diagnóstico , Transtornos da Pigmentação/diagnóstico , Doenças da Língua/diagnósticoRESUMO
White sponge nevus is a rare, autosomal-dominant disorder that affects the noncornified stratified squamous epithelia. Clinically, the presence of white, spongy plaques mostly in the buccal, labial, and gingival mucosa and the floor of the mouth characterize the lesions. The differential diagnosis of the lesion may be difficult and it is best diagnosed by biopsy. We report a case of white sponge nevus in the oral cavity of a 16-year-old boy and review of the literature.
Assuntos
Leucoceratose da Mucosa Hereditária/diagnóstico , Doenças Labiais/diagnóstico , Lábio/patologia , Mucosa Bucal/patologia , Adolescente , Humanos , MasculinoRESUMO
A 33-year-old-man presented with a 13-year history of asymptomatic, white, folded, soft, poorly-demarcated, diffuse plaques bilaterally on his buccal mucosae and lateral surfaces of his tongue. There is no family history of similar lesions. The physical examination and histopathologic findings were consistent with a diagnosis of white sponge nevus. This rare disorder is typically inherited; however, as in this case, there have been a few other cases reported without a familial background.
Assuntos
Leucoceratose da Mucosa Hereditária/diagnóstico , Neoplasias da Língua/diagnóstico , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Mucosa Bucal/patologiaRESUMO
White sponge nevus is a rare autosomal dominant hereditary disorder manifesting upon physical examination as white symmetric, diffuse, thickened, corrugated or velvety plaques on the oral, esophageal or genital mucosa. They are also found to be bilateral and asymptomatic. The tissue changes can be present at birth or manifest during childhood or adolescence, and this disorder occurs in females more than in males. It is a benign condition since cases of malignancy have not been reported, and it does not require treatment. Therefore, it is important to establish a differential diagnosis to rule out other white lesions that occur on the oral mucosa, mainly those in which there is a risk of malignancy. A case of white sponge nevus is reported along with a discussion on the differential diagnosis and clinical management.