Cases for Diagnosis
Waxy Palms and Soles in an Adolescent Girl
Palmas y plantas céreas en una adolescente
I. Gainza Apraiz
, M. Juliá Manresa, R.M. Izu Belloso
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Servicio de Dermatología, Hospital Universitario Basurto, Bilbao, Spain
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"apellidos" => "Gainza Apraiz" "email" => array:1 [ 0 => "isabelgainzaapraiz@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "M." "apellidos" => "Juliá Manresa" ] 2 => array:2 [ "nombre" => "R.M." "apellidos" => "Izu Belloso" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Universitario Basurto, Bilbao, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Palmas y plantas céreas en una adolescente" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 582 "Ancho" => 805 "Tamanyo" => 64689 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Diffuse waxy keratoderma on the soles.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">An 18-year-old woman from Morocco presented with diffuse waxy keratoderma on the palms and soles that she had suffered since the age of 3 years (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), accompanied by well-defined erythematous scaly plaques on the knees and the dorsal aspect of the hands and feet (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). She also presented flexion contractures and pseudoainhum on the fingers.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Histopathology of the lesions revealed marked orthokeratotic hyperkeratosis, acanthosis, and increased thickness of the stratum granulosum (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The patient, whose parents were consanguineous, had a twin sister with the same condition and 3 other healthy brothers. A genetic study detected the c.82delT mutation in the <span class="elsevierStyleItalic">SLURP-1</span> gene on chromosome 8q24.3.</p><p id="par0020" class="elsevierStylePara elsevierViewall">What Is Your Diagnosis?</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Diagnosis</span><p id="par0025" class="elsevierStylePara elsevierViewall">Mal de Meleda.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Comments</span><p id="par0030" class="elsevierStylePara elsevierViewall">The lesions were clinically and histologically compatible with Mal de Meleda, and the diagnosis was confirmed by a genetic study. Treatment with 9% salicylic petrolatum, topical zinc sulfate, and oral acitretin (20<span class="elsevierStyleHsp" style=""></span>mg/d) were prescribed. However, the patient did not return to the clinic and therefore her evolution remains unknown.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Mal de Meleda is a rare autosomal recessive genodermatosis caused by a mutation in the <span class="elsevierStyleItalic">SLURP-1</span> (secreted lymphocyte antigen 6/urokinase receptor-related protein 1) gene on chromosome 8q24.3. SLURP-1 protein is expressed in the stratum granulosum, where it regulates epidermal homeostasis and inhibits TNF-α secreted by macrophages. The mutation in this gene results in epidermal hyperproliferation and inflammation.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">The disease is characterized by the appearance during the first 3 years of life of a diffuse palmoplantar hyperkeratosis that extends to the dorsal aspect of the hands and feet (transgrediens)<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,5</span></a> and to the knees, elbows, and perioral region, and it tends to worsen with time (progrediens). It is accompanied by hyperhidrosis and bromhidrosis due to maceration and frequent superinfections. It is also associated with nail alterations, sclerodactyly, digital constrictions (pseudoainhum), and joint contractures, and exerts a marked impact on the quality of life of affected patients.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–6</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">It was first described on the island of Mljet (Meleda), Croatia, where reproductive isolation and consanguinity favored the transmission and increased incidence of this recessive disease. Cases were subsequently described in North Africa and the Middle East, following the commercial routes of the Medieval Republic of Dubrovnik.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> Currently, the estimated prevalence in the general population is 1 per 100<span class="elsevierStyleHsp" style=""></span>000 inhabitants.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In the present case, the genetic study revealed that the patient was a homozygous carrier of the pathogenic c.82delT variant in the <span class="elsevierStyleItalic">SLURP-1</span> gene, which is associated with this disease.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–5</span></a> However, based on the available data we cannot rule out the possibility that the patient is a double heterozygous carrier of this mutation and a deletion in <span class="elsevierStyleItalic">SLURP-1</span>. To confirm homozygosis, analyses of the mutation of interest in the parents would be required to determine whether both of them are heterozygous carriers.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Therapeutic options include emollients, topical keratolytics, antibiotic therapy to treat superinfections, grafts, and systemic retinoid treatment, which is the only treatment with proven efficacy, improving epidermal thickening and contractures but not erythema.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,4</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Mal de Meleda is a rare form of palmoplantar keratoderma, but has a highly characteristic clinical presentation, which should be borne in mind.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of Interest</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Diagnosis" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Comments" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflicts of Interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 582 "Ancho" => 805 "Tamanyo" => 64689 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Diffuse waxy keratoderma on the soles.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 548 "Ancho" => 805 "Tamanyo" => 66341 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Erythematous scaly plaques on the knees.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 605 "Ancho" => 805 "Tamanyo" => 169572 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Histological image (hematoxylin–eosin, original magnification ×4). Orthokeratotic hyperkeratosis, acanthosis, and thickening of the granular layer.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Palmoplantar keratodermas" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "D. Metze" 1 => "V. Oji" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "LibroEditado" => array:6 [ "editores" => "J.L.Bolognia, J.L.Jorizzo, R.P.Rapini" "titulo" => "Dermatology" "paginaInicial" => "924" "paginaFinal" => "943" "edicion" => "fourth ed." "serieFecha" => "2018" ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0040" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A Mal De Meleda patient with severe flexion contractures of hands and feet: a case report in West China" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "Y. Pan" 1 => "H. Zhao" 2 => "A. Chen" 3 => "X. 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Manjunathswamy" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.4103/2229-5178.142538" "Revista" => array:6 [ "tituloSerie" => "Indian Dermatol Online J" "fecha" => "2014" "volumen" => "5" "paginaInicial" => "522" "paginaFinal" => "523" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25396148" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0055" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Bchetnia" 1 => "N. Laroussi" 2 => "M. Youssef" 3 => "C. Charfeddine" 4 => "A.S.B. Brick" 5 => "M.S. Boubaker" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1155/2013/206803" "Revista" => array:5 [ "tituloSerie" => "Biomed Res Int" "fecha" => "2013" "volumen" => "2013" "paginaInicial" => "206803" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24093092" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0060" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mal de Meleda: a review of Turkish reports" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "T. Ayman" 1 => "Ö. Yerebakan" 2 => "E. Yilmaz" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1346-8138.2000.tb02250.x" "Revista" => array:6 [ "tituloSerie" => "J Dermatol" "fecha" => "2000" "volumen" => "27" "paginaInicial" => "664" "paginaFinal" => "668" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11092272" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/00017310/0000011300000010/v1_202211300529/S0001731022007931/v1_202211300529/en/main.assets" "Apartado" => array:4 [ "identificador" => "6149" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Casos para el diagnóstico" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/00017310/0000011300000010/v1_202211300529/S0001731022007931/v1_202211300529/en/main.pdf?idApp=UINPBA000044&text.app=https://actasdermo.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731022007931?idApp=UINPBA000044" ]
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| 2023 Julio | 72 | 36 | 108 |
| 2023 Junio | 65 | 31 | 96 |
| 2023 Mayo | 46 | 22 | 68 |
| 2023 Abril | 33 | 21 | 54 |
| 2023 Marzo | 58 | 43 | 101 |
| 2023 Febrero | 46 | 41 | 87 |
| 2023 Enero | 73 | 65 | 138 |
| 2022 Diciembre | 139 | 72 | 211 |
| 2022 Noviembre | 61 | 30 | 91 |
| 2022 Octubre | 84 | 65 | 149 |
| 2022 Septiembre | 31 | 70 | 101 |
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