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Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia
Pseudoxantoma elástico infantil en paciente con β-talasemia
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A) Right eye filtration bleb at diagnosis containing purulent material, indicating the presence of blebitis. B) Filtration bleb erosion with positive fluorescein stain but with negative Seidel phenomenon. C) Right eye anterior pole with folds in Descemet membrane, hypopion in anterior chamber and important conjunctival hyperemia.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. Díaz Barrón, J.M. Hervás Hernandis, L. Sanz Gallen, A. López Montero, I. Gil Hernández, A.M. Duch-Samper" "autores" => array:6 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "Díaz Barrón" ] 1 => array:2 [ "nombre" => "J.M." "apellidos" => "Hervás Hernandis" ] 2 => array:2 [ "nombre" => "L." "apellidos" => "Sanz Gallen" ] 3 => array:2 [ "nombre" => "A." "apellidos" => "López Montero" ] 4 => array:2 [ "nombre" => "I." "apellidos" => "Gil Hernández" ] 5 => array:2 [ "nombre" => "A.M." "apellidos" => "Duch-Samper" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S036566912030188X" "doi" => "10.1016/j.oftal.2020.05.012" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S036566912030188X?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579420301079?idApp=UINPBA00004N" "url" => "/21735794/0000009500000011/v1_202011010626/S2173579420301079/v1_202011010626/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S2173579420301730" "issn" => "21735794" "doi" => "10.1016/j.oftale.2020.06.007" "estado" => "S300" "fechaPublicacion" => "2020-11-01" "aid" => "1761" "copyright" => "Sociedad Española de Oftalmología" "documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Arch Soc Esp Oftalmol. 2020;95:550-4" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Ocular involvement in a patient with Sweet syndrome: report of a case and review of the literature" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "550" "paginaFinal" => "554" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Afectación oftalmológica en el contexto de un síndrome de Sweet: comunicación de un caso y revisión de la literatura" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 837 "Ancho" => 1250 "Tamanyo" => 344554 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Skin biopsy. A) Skin biopsy including epidermis, dermis and hypodermis. At the level of the superficial dermis (see arrows) an inflammatory sheet infiltrate that condenses around the vessels (#) and some sweat ducts (*) can be observed, without vasculitis. Hematoxylin-eosin,4 x. B) The inflammatory infiltrate of the superficial dermis is composed predominantly of neutrophils with the presence of leukocytoclastia and occasional macrophages. There is no alteration of the epidermis. Hematoxylin-eosin, 20x.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "E. Guzmán-Almagro, A. Fernández-Hortelano, A. Díaz-Menéndez, J. González-Martín-Moro" "autores" => array:4 [ 0 => array:2 [ "nombre" => "E." "apellidos" => "Guzmán-Almagro" ] 1 => array:2 [ "nombre" => "A." "apellidos" => "Fernández-Hortelano" ] 2 => array:2 [ "nombre" => "A." "apellidos" => "Díaz-Menéndez" ] 3 => array:2 [ "nombre" => "J." "apellidos" => "González-Martín-Moro" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669120302471" "doi" => "10.1016/j.oftal.2020.06.012" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669120302471?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579420301730?idApp=UINPBA00004N" "url" => "/21735794/0000009500000011/v1_202011010626/S2173579420301730/v1_202011010626/en/main.assets" ] "en" => array:20 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "555" "paginaFinal" => "558" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "L. Hernández Bel, A. Esteve Martínez, R. Rodríguez López, C. Monferrer Adsuara, M.L. Hernández Garfella, E. Cervera Taulet" "autores" => array:6 [ 0 => array:4 [ "nombre" => "L." "apellidos" => "Hernández Bel" "email" => array:1 [ 0 => "laura_hernandez_bel@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "A." "apellidos" => "Esteve Martínez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "R." "apellidos" => "Rodríguez López" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "C." "apellidos" => "Monferrer Adsuara" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "M.L." "apellidos" => "Hernández Garfella" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 5 => array:3 [ "nombre" => "E." "apellidos" => "Cervera Taulet" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Departamento de Oftalmología, Hospital General, Valencia, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Departamento de Dermatología, Hospital General, Valencia, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Departamento de Genética, Hospital General, Valencia, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Pseudoxantoma elástico infantil en paciente con β-talasemia" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 939 "Ancho" => 1333 "Tamanyo" => 137390 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">a) Multicoloured image showing the diffuse granular mottling of the <span class="elsevierStyleItalic">peau d'orange</span> retinal pigment epithelium. b) Small whitish subretinal lesions at the peripapillary level compatible with colloid and crystalloid bodies. c) Colloid bodies in comet wake (infrared image). d) Colloid bodies visualized with autofluorescence. e) Colloid bodies visualized by infrared. f) Optical coherence tomography on colloid bodies.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Pseudoxanthoma elasticum (PXE), or Groenblad-Strandberg syndrome, is a connective tissue gonodermatosis characterised by progressive calcification and fragmentation of elastic fibers in various tissues including skin, eyes, and the cardiovascular system. Its inheritance is autosomal recessive and is caused by a mutation in the <span class="elsevierStyleItalic">ABCC6</span><a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> gene. The prevalence is currently estimated at 1 in 25,000-70,000 births,<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> although it is probably higher due to variable expressions which make it difficult to diagnose. The first signs appear at puberty, but diagnosis may be delayed until the 3rd decade of life. The most frequent ocular findings include: angioid striae, "orange skin" background, optic nerve drusen and colloid/crystalline bodies.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Thalassemia β syndromes are  among the most common genetic diseases worldwide and are particularly prevalent in the Mediterranean area. Alterations in the β−globin chain lead to anemia, ineffective erythropoiesis and increased hemolysis. From a clinical perspective, 3 phenotypes can be differentiated on the basis of severity: β-thalassemia <span class="elsevierStyleItalic">minor</span> (asymptomatic), intermediate (does not require transfusion although occasionally it does) and major (transfusion-dependent). In addition to hematological findings, according to the literature up to 10% of patients with β-thalassemia exhibit clinical manifestations similar to those observed in PXE.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The case of a 10-year-old male with a diagnosis of thalassemia <span class="elsevierStyleItalic">minor and</span> suggestive findings of PXE is presented.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0020" class="elsevierStylePara elsevierViewall">The case of a 10-year-old male with thalassemia <span class="elsevierStyleItalic">minor</span> as sole noteworthy personal history, referred from the Dermatology Service for suspected PXE after compatible biopsy of a cervical skin lesion is presented. The parents denied any family history of PXE, although the maternal brother had died at the age of 8 months from heart failure of unspecified cause.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Ophthalmological examination produced corrected visual acuity of 20/20 in both eyes and no evident anterior segment alterations. Funduscopy showed diffuse granular mottling of the retinal pigment epithelium, a sign known as <span class="elsevierStyleItalic">peau d'orange</span> (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>a) in both eyes, as well as rounded subretinal lesions at the peripapillary level and in the mid-periphery which, in autofluorescence, were hyperautofluorescent with a hypoautofluorescent halo compatible with colloid bodies, giving the typical image in a comet wake (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>b and c). Autofluorescence (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>d), infrared (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>e) and optical coherence tomography (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>f) allowed improved visualization of the colloid bodies.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">Genetic study was performed after obtaining the result of the biopsy and compatible ophthalmological findings, which confirmed the diagnosis of PXE (c.3421C > T and c.3662 G > A, ABCC6 gene).</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0035" class="elsevierStylePara elsevierViewall">PXE is a rare genetic disease in which mutations in the <span class="elsevierStyleItalic">ABCC6</span> gene cause mineralization of elastic fibers, which in turn causes cutaneous, ocular and cardiovascular complications. The <span class="elsevierStyleItalic">ABCC6 gene</span> is expressed mainly in the liver and kidney, and is evidenced in tissues affected by PXE. It is transcribed into an mRNA that is translated into the ABCC6 protein, which is responsible for transporting substances across the cell membrane.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> The hypothesis proposed to explain the possible mechanisms that lead <span class="elsevierStyleItalic">ABCC6</span> mutations to pathological mineralization in peripheral tissues is as follows: the absence of functional activity of ABCC6, especially in the liver, would result in the deficiency of not fully known circulating factors which would be necessary from the physiological point of view to prevent aberrant mineralization under normal homeostatic conditions of calcium and phosphate.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">At the ophthalmological level, it has been proposed that the ABCC6 protein plays a role in regulating the movement of the extracellular matrix between the internal retina and the photoreceptor-pigment epithelium complex of the retina-Bruch membrane. Defective active transport of anions at that level would affect the transport and distribution properties of the molecules, resulting in disease at the Bruch membrane.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Although the main inheritance pattern described is autosomal recessive, some families show autosomal dominant patterns. In addition, the literature describes sporadic cases or with an undetermined mode of inheritance. In this case it could be the latter, although the maternal history of infant death of uncertain cardiological origin could be related to PXE.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">The skin is usually the first organ to be compromised in PXE and that usually leads to the diagnosis. Although the average age of the first signs is 13 years, most patients are diagnosed at an average age of 22 years. In terms of cardiovascular manifestations, angina, high blood pressure, restrictive cardiomyopathy, valvular diseases and sudden heart failure have been described, often leading to premature death or myocardial infarction in the 4th or 5th decade of life.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">In the eyes, the first visible changes are pigmentary (known as <span class="elsevierStyleItalic">peau d'orange,</span> fine, yellowish, drusen-like irregularities located at the level of the retinal pigment epithelium). Generally, this finding precedes the appearance of angioid striae by an average of 1–8 years. Angioid striae originate in the optic disc, with a concentric or radial arrangement, as irregular brownish-gray lines, usually bilateral and with a thickness of 50−500 mm. In the present case they were not evident since, despite being the most typical and frequent lesions in the PXE, they are usually absent in childhood. However, almost all patients with PXE develop angioid striae 20 years after diagnosis. Histologically, they are described as ruptures of the calcified and thickened Bruch membrane, although their physiopathology is not entirely known. It has been proposed that they may be due to mechanical stress caused by extrinsic/intrinsic ocular muscles on the calcified Bruch membrane. These lesions are not specific to PXE but can also be found in Paget's disease, thalassemias, high myopia, acromegaly and familial hyperphosphatemia. The visual prognosis in their presence is worse, as 70–85% of cases develop choroidal neovascularization.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Other frequent ophthalmological findings in PXE are optic nerve drusen and colloid/crystalloid bodies, which are whitish subretinal nodular lesions of about 125 µ, in the mid-periphery and around the optic nerve, and without clinical significance. In autofluorescence these lesions may behave as hypoautofluorescent surrounded by a hyperautofluorescent halo (crystalloid bodies) or hyperautofluorescent (colloid bodies). Unlike angioid striae, colloid/crystalloid bodies are considered pathognomonic of PXE.</p><p id="par0060" class="elsevierStylePara elsevierViewall">β−Thalassemia and PXE are distinct disorders, with specific mutations in different genes (chromosome 11 and chromosome 16, respectively). However, in the early 1990s, the relationship between β-thalassaemia and the tendency to develop characteristic systemic manifestations of PXE became evident. Later studies determined that these ectopic calcifications of elastic tissue were the result of an acquired defect secondary to hemoglobinopathy, and that a genetic link between thalassemia and PXE was unlikely since relatives without hemoglobinopathy did not exhibit symptoms. In this context, the term "<span class="elsevierStyleItalic">PXE-like</span> syndrome"<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> was introduced.</p><p id="par0065" class="elsevierStylePara elsevierViewall">The origin of <span class="elsevierStyleItalic">PXE-like</span> in β-thalassemias has been widely discussed in the literature. A number of acquired pathogenic mechanisms have been proposed, including injury to elastic tissue derived from an oxidative process or iron overload. Other hypotheses consider that they are the result of epigenetic regulatory mechanisms driven by oxidative stress that decrease regulation in the <span class="elsevierStyleItalic">ABCC6 gene,</span> since the presence of mutations in this gene had been ruled out in patients with β-thalassemia. However, in recent years it has been revealed that other genes may also be responsible for ectopic mineralization phenotypes. Boraldi et al. propose searching for sequence variants in genes related to calcification in patients with -thalassaemia βby means of a multigenic test.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">8,9</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">In the present case, the patient was diagnosed with PXE by means of a genetic study despite the coexistence of β-thalassemia. In addition, he presented other characteristics that supported the diagnosis: a) <span class="elsevierStyleItalic">PXE-like</span> has been described in patients with major or intermediate β-thalassemia<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> and not with the <span class="elsevierStyleItalic">minor</span> phenotype; b) although <span class="elsevierStyleItalic">PXE-like</span> is clinically indistinguishable from classic PXE, it is age-dependent and presents from the second decade of life, while the present case was diagnosed at age 10.</p><p id="par0075" class="elsevierStylePara elsevierViewall">Monitoring for signs similar to PXE in patients with haemoglobinopathies is relatively simple and consists of inspecting the skin of the neck, armpits,cubital and popliteal fossa, fundus from the second decade of life and radiographic examinations of limbs to detect arterial calcifications at >30 years. Both patients with PXE and <span class="elsevierStyleItalic">PXE-like</span> usually lead a normal life, with morbidity and mortality depending on the impairment of the extracutaneous organs. For this reason, early recognition, lifestyle intervention and follow-up for the detection of complications is essential to reduce morbidity.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">In conclusion, it can be said that in patients with coexisting PXE and β-thalassemia, the origin of calcification of connective tissue can be both hereditary and acquired, secondary to haemoglobinopathy. The age of presentation facilitates differentiation: acquired ones appear later, in the second decade. Due to the possible complications in these patients, multidisciplinary monitoring and knowledge of the clinical characteristics of the different specialists is needed.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interest</span><p id="par0085" class="elsevierStylePara elsevierViewall">There is not any conflict of interest with the present article.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1407066" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1287296" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1407067" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1287297" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical case" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interest" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2020-03-23" "fechaAceptado" => "2020-05-15" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1287296" "palabras" => array:3 [ 0 => "Pseudoxanthoma elasticum" 1 => "β-thalassaemia" 2 => "Childhood" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1287297" "palabras" => array:3 [ 0 => "Pseudoxantoma elástico" 1 => "β-talasemia" 2 => "Infantil" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterised by elastic tissue alterations and caused by mutations in a single gene, ABCC6, on chromosome 16p that includes manifestations that are predominantly cutaneous, ocular and cardiovascular. PXE-like lesions in association with beta-thalassemia have previously been reported in the literature in patients with beta-thalassaemia intermediate and major, being clinically indistinguishable from classic PXE. The case is presented of a 10-year-old boy with beta-thalassaemia minor and characteristic lesions of PXE. It is worth noting the benefit of multimodal imaging in the diagnosis and monitoring of the lesions.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El pseudoxantoma elástico (PXE) es una enfermedad hereditaria rara, que cursa con alteraciones del tejido conectivo, debido a una alteración en el cromosoma 16p del gen ABCC6. Clínicamente da lugar a manifestaciones predominantemente a nivel cutáneo, cardiaco y oftalmológico. La asociación de Beta talasemia y cuadros clínicos compatibles con PXE (síndromes PXE-like) ha sido descrita en la literatura en pacientes con betatalasemia major e intermedia, siendo indistinguible clínicamente del PXE clásico. Presentamos el caso de un niño de 10 años con Beta talasemia minor y lesiones características de PXE. Cabe destacar el beneficio de la imágen multimodal para el diagnóstico y seguimiento de las lesiones.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Hernández Bel L, Esteve Martínez A, Rodríguez López R, Monferrer Adsuara C, Hernández Garfella ML, Cervera Taulet E. Pseudoxantoma elástico infantil en paciente con β-talasemia. Arch Soc Esp Oftalmol. 2020;95:555–558.</p>" ] ] "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 939 "Ancho" => 1333 "Tamanyo" => 137390 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">a) Multicoloured image showing the diffuse granular mottling of the <span class="elsevierStyleItalic">peau d'orange</span> retinal pigment epithelium. b) Small whitish subretinal lesions at the peripapillary level compatible with colloid and crystalloid bodies. c) Colloid bodies in comet wake (infrared image). d) Colloid bodies visualized with autofluorescence. e) Colloid bodies visualized by infrared. f) Optical coherence tomography on colloid bodies.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "O.M. 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