Letter - Clinical
Diagnosis of pseudoxanthoma elasticum in a patient with discrete skin lesions
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Clinical</span>" "titulo" => "Generalized nodular tinea profunda in an immunosuppressed patient caused by <span class="elsevierStyleItalic">Trichophyton rubrum</span>" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "544" "paginaFinal" => "546" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1929 "Ancho" => 3175 "Tamanyo" => 730128 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Clinical aspect: (A‒C) Multiple papules and subcutaneous nodules and onychomycosis.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Wei Li, Kun-E Lu, Sui-Qing Cai, Li-Min Lao" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Wei" "apellidos" => "Li" ] 1 => array:2 [ "nombre" => "Kun-E" "apellidos" => "Lu" ] 2 => array:2 [ "nombre" => "Sui-Qing" "apellidos" => "Cai" ] 3 => array:2 [ "nombre" => "Li-Min" "apellidos" => "Lao" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "pt" => array:9 [ "pii" => "S2666275223000875" "doi" => "10.1016/j.abdp.2023.03.019" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "pt" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2666275223000875?idApp=UINPBA00008Z" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365059623000600?idApp=UINPBA00008Z" "url" => "/03650596/0000009800000004/v1_202307031010/S0365059623000600/v1_202307031010/en/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S0365059623000430" "issn" => "03650596" "doi" => "10.1016/j.abd.2022.01.014" "estado" => "S300" "fechaPublicacion" => "2023-07-01" "aid" => "724" "copyright" => "Sociedade Brasileira de Dermatologia" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "crp" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Letter - 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Note the “peau d’orange” appearance of the fundus temporal to the macula (arrow) and barely visible angioid streaks radiate outwards from the optic disc giving the appearance of a “spider web” (arrowhead). Fluorescein angiography of the left eye demonstrated the angioid streaks with hyperfluorescent edges radiating from the optic nerve up to the midperiphery (arrow).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic metabolic condition characterized by aberrant calcification with the fragmentation of elastic fibers in the dermis, retina and tunica intima of arteries.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> We present the case of a patient with ocular alterations and slight cutaneous signs as a debut form of PXE, which was confirmed by skin biopsy.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 33-year-old woman with a history of systemic lupus erythematosus was referred because an ocular fundus examination revealed angioid streaks associated with decreased foveolar brightness and diffuse pigmentary changes called “peau d’orange” (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Physical examination revealed two 2 mm whitish papules on the lateral cervical fold (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). The patient was normotensive with peripheral and symmetrical pulses present. Calcium, phosphorus, and lipid profile values were normal. Histological examination of the cervical lesions revealed thickened and fragmented dermal elastic fibers. Von Kossa staining was positive for calcium deposition in elastic fibers (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>), confirming the diagnosis of PXE.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">The prevalence of PXE varies between 1/25,000 and 1/100,000, with female predominance. It is caused by a mutation in the ABCC6 gene, located on chromosome 16, which encodes a transmembrane transport protein MRP6.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> The pathophysiology involves reduced levels of the anti-mineralization factor inorganic pyrophosphate (PPi), dysfunctional extracellular calcium homeostasis, and ectopic mineralization of tissues rich in elastic fibers. There is a considerable phenotypic heterogeneity that could explain the late diagnosis of the clinical case presented.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">Although cutaneous findings usually represent the first clinical sign, they are typically subtle and not evident until the second or third decade.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The first cutaneous sign is small, discrete, yellowish papules at the lateral side of the neck, axillae, antecubital and popliteal fossae. These papules coalesce to form plaques of corrugated and inelastic appearance.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a> Despite the innocuous appearance of these skin changes, they may reveal significant ocular and vascular involvement. Subsequently, it is associated with redundant skin in flexural folds, generally in the axillae and groin.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> In some patients with angioid streaks, a biopsy of healthy axillary or scar skin may reveal histological findings characteristic of PXE.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Electron microscopy of the skin reveals bulky mineral deposits that disrupt and break elastic fibers in the mid-dermis.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The first visible changes on funduscopy are pigment irregularities with a “peau d’orange” appearance that typically precedes angioid streaks by one to eight years. Angioid streaks originate from the optic disc and radiate outwards as brownish-grey irregular lines, histopathological findings show breaks of the calcified and thickened Bruch’s membrane. The latter predisposes to secondary choroidal neovascularization with the consequent risk of hemorrhage and blindness in the later stages of the disease.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Although highly suggestive, angioid streaks have also been reported in patients with hemoglobinopathies, Paget’s disease, and Ehler-Danlos syndrome.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Manifestations of vascular involvement include loss of peripheral pulses, claudication, hypertension, myocardial infarction and ischaemic or hemorrhagic strokes. These findings reflect the mineralization of the middle and intimal layers of small and medium-caliber arteries.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">We present this case given the unusual clinical presentation and highlight the importance of cutaneous alterations in the diagnostic confirmation of this entity.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0040" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors’ contributions</span><p id="par0045" class="elsevierStylePara elsevierViewall">Catalina Jahr: Approval of the final version of the manuscript; composition of the manuscript; collection, analysis, and interpretation of data; participation in the design of the study; critical review of the literature; critical review of the manuscript.</p><p id="par0050" class="elsevierStylePara elsevierViewall">Valentina Vera: Approval of the final version of the manuscript; collection, analysis, and interpretation of data; critical review of the manuscript.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Roberto Bustos: Approval of the final version of the manuscript; collection, analysis, and interpretation of data; critical review of the manuscript.</p><p id="par0060" class="elsevierStylePara elsevierViewall">José Contreras: Approval of the final version of the manuscript; collection, analysis, and interpretation of data; critical review of the manuscript.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0065" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Financial support" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Authors’ contributions" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflicts of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2021-07-27" "fechaAceptado" => "2021-07-30" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Study conducted at the Hospital Barros Luco Trudeau, Santiago, Chile.</p>" ] ] "multimedia" => array:3 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1491 "Ancho" => 3175 "Tamanyo" => 372491 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Fundus photograph of the right eye. Note the “peau d’orange” appearance of the fundus temporal to the macula (arrow) and barely visible angioid streaks radiate outwards from the optic disc giving the appearance of a “spider web” (arrowhead). Fluorescein angiography of the left eye demonstrated the angioid streaks with hyperfluorescent edges radiating from the optic nerve up to the midperiphery (arrow).</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1924 "Ancho" => 2925 "Tamanyo" => 438538 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">(A) Left cervicolateral skin area with two barely perceptible whitish papules, 2 mm in diameter, marked with a blue pencil (arrows). (B) Dermoscopy of one of the whitish papules marked with blue pencil.</p>" ] ] 2 => array:8 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1604 "Ancho" => 3341 "Tamanyo" => 1396609 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">(A) Epidermis without alterations, dermis with increased and fragmented elastic fibers, which are thickened and with increased basophilia (Hematoxylin & eosin, 40×). (B) Von Kossa stain positive for calcium deposition in elastic fibers (Von Kossa, 40×).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "An update on the ocular phenotype in patients with pseudoxanthoma elasticum" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "M. Gliem" 1 => "J.D. Zaeytijd" 2 => "R.P. Finger" 3 => "F.G. Holz" 4 => "B.P. Leroy" 5 => "P.C. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 20 | 5 | 25 |
| 2024 October | 119 | 81 | 200 |
| 2024 September | 150 | 83 | 233 |
| 2024 August | 141 | 132 | 273 |
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| 2024 May | 89 | 58 | 147 |
| 2024 April | 101 | 81 | 182 |
| 2024 March | 89 | 58 | 147 |
| 2024 February | 82 | 92 | 174 |
| 2024 January | 91 | 51 | 142 |
| 2023 December | 92 | 78 | 170 |
| 2023 November | 98 | 94 | 192 |
| 2023 October | 79 | 75 | 154 |
| 2023 September | 87 | 89 | 176 |
| 2023 August | 81 | 39 | 120 |
| 2023 July | 203 | 71 | 274 |
| 2023 June | 55 | 41 | 96 |
| 2023 May | 55 | 41 | 96 |
| 2023 April | 13 | 20 | 33 |
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