Extensive White Sponge Nevus | Actas Dermo-Sifiliográficas

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(b) Satisfactory improvement after therapeutical approach: reduction of erythema, pustules and scales, hair growth, and no progression of alopecia." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "E. Neves Souza, L. Martins Diniz, L. Amaral de Moura, B. dos Anjos Bortolini" "autores" => array:4 [ 0 => array:2 [ "nombre" => "E." "apellidos" => "Neves Souza" ] 1 => array:2 [ "nombre" => "L." "apellidos" => "Martins Diniz" ] 2 => array:2 [ "nombre" => "L." "apellidos" => "Amaral de Moura" ] 3 => array:2 [ "nombre" => "B." "apellidos" => "dos Anjos Bortolini" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731023006920?idApp=UINPBA000044" "url" => "/00017310/0000011500000009/v2_202410160548/S0001731023006920/v2_202410160548/en/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S000173102300813X" "issn" => "00017310" "doi" => "10.1016/j.ad.2023.01.027" "estado" => "S300" "fechaPublicacion" => "2024-10-01" "aid" => "3685" "copyright" => "AEDV" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2024;115:919-21" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "CARTA CIENTÍFICO-CLÍNICA" "titulo" => "Nevus blanco esponjoso extenso" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "919" "paginaFinal" => "921" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Extensive White Sponge Nevus" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figura 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1201 "Ancho" => 3500 "Tamanyo" => 636764 ] ] "descripcion" => array:1 [ "es" => "Biopsia de la mucosa yugal. Se evidencia principalmente acantosis, edema intracelular en los queratinocitos y disqueratosis (HE)." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Llull-Ramos, I. Gracia-Darder, A. Martín-Santiago" "autores" => array:3 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Llull-Ramos" ] 1 => array:2 [ "nombre" => "I." "apellidos" => "Gracia-Darder" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Martín-Santiago" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S000173102300813X?idApp=UINPBA000044" "url" => "/00017310/0000011500000009/v2_202410160548/S000173102300813X/v2_202410160548/es/main.assets" ] "asociados" => array:1 [ 0 => array:18 [ "pii" => "S000173102300813X" "issn" => "00017310" "doi" => "10.1016/j.ad.2023.01.027" "estado" => "S300" "fechaPublicacion" => "2024-10-01" "aid" => "3685" "copyright" => "AEDV" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "cita" => "Actas Dermosifiliogr. 2024;115:919-21" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "CARTA CIENTÍFICO-CLÍNICA" "titulo" => "Nevus blanco esponjoso extenso" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "919" "paginaFinal" => "921" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Extensive White Sponge Nevus" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figura 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1201 "Ancho" => 3500 "Tamanyo" => 636764 ] ] "descripcion" => array:1 [ "es" => "Biopsia de la mucosa yugal. Se evidencia principalmente acantosis, edema intracelular en los queratinocitos y disqueratosis (HE)." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Llull-Ramos, I. Gracia-Darder, A. Martín-Santiago" "autores" => array:3 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Llull-Ramos" ] 1 => array:2 [ "nombre" => "I." "apellidos" => "Gracia-Darder" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Martín-Santiago" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S000173102300813X?idApp=UINPBA000044" "url" => "/00017310/0000011500000009/v2_202410160548/S000173102300813X/v2_202410160548/es/main.assets" ] ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "Carta científico-clínica" "titulo" => " Extensive White Sponge Nevus" "tieneTextoCompleto" => true "saludo" => "To the Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "T919" "paginaFinal" => "T921" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "A. Llull-Ramos, I. Gracia-Darder, A. Martín-Santiago" "autores" => array:3 [ 0 => array:4 [ "nombre" => "A." "apellidos" => "Llull-Ramos" "email" => array:1 [ 0 => "anallullramos@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "I." "apellidos" => "Gracia-Darder" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Martín-Santiago" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Universitario Son Espases, Palma, Islas Baleares, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Nevus blanco esponjoso extenso" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig1" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1084 "Ancho" => 2167 "Tamanyo" => 180472 ] ] "descripcion" => array:1 [ "en" => "Hyperkeratotic white-yellowish plaques affecting the entire external labial mucosa (A). Bilateral and symmetrical whitish velvety plaques on the buccal, internal labial, and lateral lingual mucosae (B)." ] ] ] "textoCompleto" => "A healthy 5-month-old boy, with no relevant family history and an unremarkable pregnancy and delivery was evaluated due to the presence of whitish plaques located on the external and internal oral mucosa (<a class="elsevierStyleCrossRef" href="#fig1">fig. 1</a>), which the parents reported as congenital. He exhibited a white-yellowish plaque affecting the external labial mucosa, and whitish, velvety plaques that did not detach with friction were observed on the lateral lingual mucosa and buccal mucosa. No other abnormalities were observed in the nails, hair, skin, or mucous membranes. He also did not present with stridor either. Neither parent had similar lesions. A laryngoscopy under sedation ruled out respiratory tract involvement. A biopsy of the buccal lesions revealed the presence of an acanthotic mucosa with clear cytoplasm keratinocytes, intracellular edema, and isolated dyskeratotic cells (<a class="elsevierStyleCrossRef" href="#fig0010">fig. 2</a>). No alterations were detected in the molecular study either. For the genetic study, the human exome was sequenced using Illumina DNA Prep with Exome v2.0 PLUS Enrichment with a total coverage of 37.5 Mb from a peripheral blood DNA sample. The Geneyx analysis software was used for tertiary test based on the following HPO phenotypes: nevus, white sponge nevus, and pachyonychia congenita. Additionally, the KRT13, KRT4, KRT6A, and KRT6B genes were specifically reviewed. Based on the clinical-histopathological findings and the absence of other associated signs, a diagnosis of white sponge nevus (WSN) was established.<elsevierMultimedia ident="fig1"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia>WSN is a rare disease of autosomal dominant inheritance and variable penetrance and expressivity<a class="elsevierStyleCrossRefs" href="#bib0045">1,2</a>. Germline mutations in the keratin 4 and 13 genes have been isolated in patients with this condition. Despite this, Liu et al. conducted a molecular study on peripheral blood in 5 patients with sporadic WSN, and only 1 was found to have a mutation in 1 of these cytokeratins, as opposed to the 3 patients with familial WSN analyzed, all of whom had mutations in keratin 4 or cytokeratin 13<a class="elsevierStyleCrossRefs" href="#bib0055">3,4</a>.The most common location is the buccal mucosa, followed by other parts of the oral or labial mucosa. However, it can also damage the esophagus, respiratory tract, rectum, or genitals. Clinically, it shows as thickened, whitish, bilateral, and symmetrical plaques with a velvety surface that do not disappear with friction<a class="elsevierStyleCrossRefs" href="#bib0050">2,5</a>. Histopathologically, it is characterized by the presence of acanthosis, hyperparakeratosis, vacuolization of keratinocytes in the suprabasal layers, and ocasionally perinuclear eosinophilic deposits of cytokeratin tonofilaments.Although WSN often develops in early childhood, with a clinical diagnosis, it can also be detected in adults, for whom histopathological tests are advised to rule out the presence of any other possible etiologies<a class="elsevierStyleCrossRef" href="#bib0045">1</a>. In children, candidiasis should be ruled out and differentiated from other entities such as pachyonychia congenita, benign hereditary intraepithelial dyskeratosis, and congenital dyskeratosis (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). If WSN is suspected in adulthood, the differential diagnosis should include lichen planus, squamous cell carcinoma, linea alba, frictional leukoplakia, Darier disease, lupus erythematosus, or secondary syphilis<a class="elsevierStyleCrossRefs" href="#bib0045">1,2</a>.<elsevierMultimedia ident="tbl0005"></elsevierMultimedia>Multiple treatments with variable effectiveness for WSN have been described, such as topical or oral tetracyclines, surgery, CO2 laser, beta-carotenes, chlorhexidine rinses, and others. The therapeutic goal is primarily aesthetic since it is a benign and asymptomatic condition<a class="elsevierStyleCrossRefs" href="#bib0050">2,3</a>.In conclusion, a sporadic WSN with extensive involvement of the oral mucosa has been described. Notably, there was significant involvement of the external labial mucosa, which is uncommon for this entity.Conflicts of interestNone declared." "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig1" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1084 "Ancho" => 2167 "Tamanyo" => 180472 ] ] "descripcion" => array:1 [ "en" => "Hyperkeratotic white-yellowish plaques affecting the entire external labial mucosa (A). Bilateral and symmetrical whitish velvety plaques on the buccal, internal labial, and lateral lingual mucosae (B)." ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1201 "Ancho" => 3500 "Tamanyo" => 575691 ] ] "descripcion" => array:1 [ "en" => "Biopsy of the buccal mucosa showing mainly acanthosis, intracellular edema in keratinocytes, and dyskeratosis (HE)." ] ] 2 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Pachyonychia congenita<a class="elsevierStyleCrossRef" href="#bib0070">6</a> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Benign hereditary intraepithelial dyskeratosis<a class="elsevierStyleCrossRef" href="#bib0075">7</a> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Congenital dyskeratosis<a class="elsevierStyleCrossRef" href="#bib0080">8</a> \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Mutations in cytokeratins: 6A, 6B, 6C, 16, and 17 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Corneal dystrophy \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Associated with telomeric alterations. Higher number of pathogenic mutations in the DKC1 gene, followed by RTEL1 and TERT \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Palmoplantar keratoderma \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Whitish lesions on the bulbar conjunctiva and oral mucosa \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Predominantly in males \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Laryngeal involvement \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Conjunctival hyperemia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Reticulated hyperpigmentation (possible hypopigmentation, atrophy, poikiloderma) \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Subungual hyperkeratosis \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Nail dystrophy \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Hyperhidrosis \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Leukoplakia \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Oral leukoplakia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Involvement of other organs: bone marrow, lungs, liver \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Epidermal cysts or multiple steatocystomas \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab3689686.png" ] ] ] ] "descripcion" => array:1 [ "en" => "Differential diagnosis of leukoplakia in childhood." ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:8 [ 0 => array:3 [ "identificador" => "bib0045" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "White sponge nevus: A condition not always clinically suspected" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "K.T. Bezerra" 1 => "T.C. Leite" 2 => "A.L.O.C. Roza" 3 => "R. Araújo" 4 => "M.S. Israel" 5 => "N.H.S. Canedo" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Cutan Pathol." "fecha" => "2020" "volumen" => "47" "paginaInicial" => "22" "paginaFinal" => "26" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0050" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Oral white sponge nevus: An exceptional differential diagnosis in childhood" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "F.Z. Elfatoiki" 1 => "S. Capatas" 2 => "H.D. Skali" 3 => "F. Hali" 4 => "H. Attar" 5 => "S. Chiheb" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:3 [ "tituloSerie" => "Case Rep Dermatol Med." 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Extensive White Sponge Nevus

Nevus blanco esponjoso extenso

A. Llull-Ramos

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anallullramos@gmail.com

Corresponding author.

, I. Gracia-Darder, A. Martín-Santiago

Servicio de Dermatología, Hospital Universitario Son Espases, Palma, Islas Baleares, Spain

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    "titulo" => " Extensive White Sponge Nevus"
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          "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Hyperkeratotic white-yellowish plaques affecting the entire external labial mucosa &#40;A&#41;&#46; Bilateral and symmetrical whitish velvety plaques on the buccal&#44; internal labial&#44; and lateral lingual mucosae &#40;B&#41;&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A healthy 5-month-old boy&#44; with no relevant family history and an unremarkable pregnancy and delivery was evaluated due to the presence of whitish plaques located on the external and internal oral mucosa &#40;<a class="elsevierStyleCrossRef" href="#fig1">fig&#46; 1</a>&#41;&#44; which the parents reported as congenital&#46; He exhibited a white-yellowish plaque affecting the external labial mucosa&#44; and whitish&#44; velvety plaques that did not detach with friction were observed on the lateral lingual mucosa and buccal mucosa&#46; No other abnormalities were observed in the nails&#44; hair&#44; skin&#44; or mucous membranes&#46; He also did not present with stridor either&#46; Neither parent had similar lesions&#46; A laryngoscopy under sedation ruled out respiratory tract involvement&#46; A biopsy of the buccal lesions revealed the presence of an acanthotic mucosa with clear cytoplasm keratinocytes&#44; intracellular edema&#44; and isolated dyskeratotic cells &#40;<a class="elsevierStyleCrossRef" href="#fig0010">fig&#46; 2</a>&#41;&#46; No alterations were detected in the molecular study either&#46; For the genetic study&#44; the human exome was sequenced using Illumina DNA Prep with Exome v2&#46;0 PLUS Enrichment with a total coverage of 37&#46;5 Mb from a peripheral blood DNA sample&#46; The Geneyx analysis software was used for tertiary test based on the following HPO phenotypes&#58; nevus&#44; white sponge nevus&#44; and pachyonychia congenita&#46; Additionally&#44; the KRT13&#44; KRT4&#44; KRT6A&#44; and KRT6B genes were specifically reviewed&#46; Based on the clinical-histopathological findings and the absence of other associated signs&#44; a diagnosis of white sponge nevus &#40;WSN&#41; was established&#46;</p><elsevierMultimedia ident="fig1"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">WSN is a rare disease of autosomal dominant inheritance and variable penetrance and expressivity<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;2</span></a>&#46; Germline mutations in the keratin 4 and 13 genes have been isolated in patients with this condition&#46; Despite this&#44; Liu et al&#46; conducted a molecular study on peripheral blood in 5 patients with sporadic WSN&#44; and only 1 was found to have a mutation in 1 of these cytokeratins&#44; as opposed to the 3 patients with familial WSN analyzed&#44; all of whom had mutations in keratin 4 or cytokeratin 13<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">3&#44;4</span></a>&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The most common location is the buccal mucosa&#44; followed by other parts of the oral or labial mucosa&#46; However&#44; it can also damage the esophagus&#44; respiratory tract&#44; rectum&#44; or genitals&#46; Clinically&#44; it shows as thickened&#44; whitish&#44; bilateral&#44; and symmetrical plaques with a velvety surface that do not disappear with friction<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">2&#44;5</span></a>&#46; Histopathologically&#44; it is characterized by the presence of acanthosis&#44; hyperparakeratosis&#44; vacuolization of keratinocytes in the suprabasal layers&#44; and ocasionally perinuclear eosinophilic deposits of cytokeratin tonofilaments&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Although WSN often develops in early childhood&#44; with a clinical diagnosis&#44; it can also be detected in adults&#44; for whom histopathological tests are advised to rule out the presence of any other possible etiologies<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">1</span></a>&#46; In children&#44; candidiasis should be ruled out and differentiated from other entities such as pachyonychia congenita&#44; benign hereditary intraepithelial dyskeratosis&#44; and congenital dyskeratosis &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46; If WSN is suspected in adulthood&#44; the differential diagnosis should include lichen planus&#44; squamous cell carcinoma&#44; linea alba&#44; frictional leukoplakia&#44; Darier disease&#44; lupus erythematosus&#44; or secondary syphilis<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">1&#44;2</span></a>&#46;</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">Multiple treatments with variable effectiveness for WSN have been described&#44; such as topical or oral tetracyclines&#44; surgery&#44; CO<span class="elsevierStyleInf">2</span> laser&#44; beta-carotenes&#44; chlorhexidine rinses&#44; and others&#46; The therapeutic goal is primarily aesthetic since it is a benign and asymptomatic condition<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">2&#44;3</span></a>&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">In conclusion&#44; a sporadic WSN with extensive involvement of the oral mucosa has been described&#46; Notably&#44; there was significant involvement of the external labial mucosa&#44; which is uncommon for this entity&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
    "textoCompletoSecciones" => array:1 [
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          "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Hyperkeratotic white-yellowish plaques affecting the entire external labial mucosa &#40;A&#41;&#46; Bilateral and symmetrical whitish velvety plaques on the buccal&#44; internal labial&#44; and lateral lingual mucosae &#40;B&#41;&#46;</p>"
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                  <table border="0" frame="\n
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                  \t\t\t\t\ttable-head\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Pachyonychia congenita<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">6</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Benign hereditary intraepithelial dyskeratosis<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">7</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
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                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Congenital dyskeratosis<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">8</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
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                  \t\t\t\t">Mutations in cytokeratins&#58;&#160;6A&#44; 6B&#44; 6C&#44; 16&#44; and 17&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Corneal dystrophy&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Associated with telomeric alterations&#46; Higher number of pathogenic mutations in the DKC1 gene&#44; followed by RTEL1 and TERT&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
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                  \t\t\t\t">Palmoplantar keratoderma&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Whitish lesions on the bulbar conjunctiva and oral mucosa&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t">Predominantly in males&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Laryngeal involvement&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Conjunctival hyperemia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t">Reticulated hyperpigmentation &#40;possible hypopigmentation&#44; atrophy&#44; poikiloderma&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t">Subungual hyperkeratosis&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t">Nail dystrophy&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
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                  \t\t\t\t">Hyperhidrosis&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t">Leukoplakia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
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                  \t\t\t\t">Oral leukoplakia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
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                  \t\t\t\t</td><td class="td" title="\n
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                  \t\t\t\t  " align="left" valign="\n
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                  \t\t\t\t">Involvement of other organs&#58; bone marrow&#44; lungs&#44; liver&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t">Epidermal cysts or multiple steatocystomas&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t  " align="" valign="\n
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                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "White sponge nevus&#58; A condition not always clinically suspected"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "K&#46;T&#46; Bezerra"
                            1 => "T&#46;C&#46; Leite"
                            2 => "A&#46;L&#46;O&#46;C&#46; Roza"
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Article information

ISSN: 00017310
Original language: English

DOI:10.1016/j.ad.2024.08.002

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