Cases for diagnosis
Recurrent Rash on the Left Side of the Face: A Diagnostic Challenge
Un reto diagnóstico: erupción recidivante en la hemicara izquierda
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Livedoid changes, atrophie blanche, and fibrinoid ulcers can be observed.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "L. Revelles-Peñas, S. Pastor-Navarro, A.A. López-Piñero, V. Velasco-Tirado" "autores" => array:4 [ 0 => array:2 [ "nombre" => "L." "apellidos" => "Revelles-Peñas" ] 1 => array:2 [ "nombre" => "S." "apellidos" => "Pastor-Navarro" ] 2 => array:2 [ "nombre" => "A.A." "apellidos" => "López-Piñero" ] 3 => array:2 [ "nombre" => "V." 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"apellidos" => "Pérez-López" "email" => array:1 [ 0 => "ipl_elmadrono@hotmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "C." "apellidos" => "Garrido-Colmenero" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "R." "apellidos" => "Ruiz-Villaverde" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Dermatología Médico Quirúrgica y Venerología, Hospital Universitario San Cecilio, Granada, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Dermatología, Complejo Hospitalario de Jaén, Jaén, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Un reto diagnóstico: erupción recidivante en la hemicara izquierda" ] ] "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" => 733 "Ancho" => 551 "Tamanyo" => 62060 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Erythematous-edematous plaque with a few adhered crusts.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Clinical history</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 4-month-old infant, with no significant personal or family history, was referred due to the presence of a rash on his left hemiface for which they had been admitted 3 times to his local hospital.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Upon examination, an erythematous-edematous rash with a few adhered crusts was observed (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). On this occasion, the patient exhibited similar lesions, including blisters, on the pretibial area and forearms (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>). Although these episodes were not associated with prolonged sun exposure, 2 of the occurrences were consistent with car trips. The patient did not use topical sunscreen.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">The histological study of the biopsy was consistent with a picture of phototoxicity, highlighting an epidermis with ballooned keratinocytes and numerous necrotic and apoptotic keratinocytes. The dermal-epidermal junction showed vacuolation changes. The superficial dermis revealed the presence of edema and a sparse perivascular lymphocytic infiltrate (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). Immunofluorescence testing was negative.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Other supplementary tests</span><p id="par0020" class="elsevierStylePara elsevierViewall">The analytical study conducted included a complete blood count, biochemistry, PCR, ESR, autoimmunity study, and porphyria tests, which all tested negative. One genetic test was conducted too.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">The genetic study diagnosed xeroderma pigmentosum (XP) type D in compound heterozygosity, after detecting the pathogenic c.2046+1G>C variant and the R683W variant as well. The patient had left congenital torticollis, which caused continuous exposure of the same hemiface.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Treatment and course of the disease</span><p id="par0035" class="elsevierStylePara elsevierViewall">After following guidelines related to solar damage prevention, the patient has not experienced any similar episodes. Currently, he remains asymptomatic with vitamin D supplementation and sunscreen.</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">XP is characterized by photosensitivity, pigmentation changes, premature skin aging, photophobia, and neoplasms. The prevalence in Europe is 2.3 cases per million inhabitants.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1-3</span></a> XP is an autosomal recessive genetic disorder due to mutations in some of the 8 genes involved in nucleotide excision repair (NER) pathways, which protect us from UV-induced damage. Eight types of XP have been described, all showing a marked increase in the risk of developing melanoma and non-melanoma skin cancer.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,3</span></a> The mean age of tumor growth is 9 years for non-melanoma skin carcinoma and 20 years for melanoma.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1-3</span></a> Up to 25% of patients have neurological symptoms, which are more common in types A and D1, including sensorineural hearing loss, microcephaly, or cognitive impairment1, which are crucial for disease prognosis. Additionally, ocular signs appear in up to 80% of patients and can cause corneal opacifications.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Differential diagnosis should include diseases induced or aggravated by light. Rheumatological diseases, such as systemic lupus erythematosus, metabolic diseases, such as porphyrias, or drug-induced photosensitivity reactions could explain the process. A different group of diseases that could justify the presentation includes hereditary conditions with solar hypersensitivity, such as Cockayne syndrome, Bloom syndrome, Rothmund-Thomson syndrome, and progeria syndromes.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1-4</span></a> On the other hand, certain disorders unrelated to solar exposure could also have a similar onset to that of the patient in question, such as bacterial infections (<span class="elsevierStyleItalic">Staphylococcus aureus-</span>induced bullous impetigo), or viral infections (herpes zoster). The Meyerson phenomenon with capillary malformation could also start with a similar lesion.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In this disease, early diagnosis and strict UV radiation protection are essential. Indeed, solar damage prevention is the cornerstone of treatment.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">5,6</span></a> Although there is no curative treatment, various chemopreventives have been developed in the last decade, including systemic retinoids, 5-fluorouracil, endonuclease VT4, and topical imiquimod.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Early recognition of photosensitivity in pediatric patients is crucial to minimize long-term complications associated with inadequate photoprotection.</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Funding</span><p id="par0060" class="elsevierStylePara elsevierViewall">None declared.</p></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conflicto de intereses</span><p id="par0065" class="elsevierStylePara elsevierViewall">Los autores declaran no tener ningún conflicto de intereses.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:10 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Clinical history" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Histopathology" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Other supplementary tests" ] 4 => array:2 [ "identificador" => "sec0030" "titulo" => "Diagnosis" ] 5 => array:2 [ "identificador" => "sec0035" "titulo" => "Treatment and course of the disease" ] 6 => array:2 [ "identificador" => "sec0040" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0045" "titulo" => "Funding" ] 8 => array:2 [ "identificador" => "sec0050" "titulo" => "Conflicto de intereses" ] 9 => 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" => 733 "Ancho" => 551 "Tamanyo" => 62060 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Erythematous-edematous plaque with a few adhered crusts.</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" => 550 "Ancho" => 398 "Tamanyo" => 26304 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Erythematous-edematous plaque with denuded areas and blisters in the pretibial area.</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" => 433 "Ancho" => 799 "Tamanyo" => 75694 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Dermal-epidermal junction with vacuolization changes. Presence of edema and sparse perivascular lymphocytic infiltrate on superficial dermis.</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" => "Xeroderma pigmentosum: A review and case series" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "F.M.A. Butt" 1 => "J.R. Moshi" 2 => "S. Owibingire" 3 => "M.L. Chindia" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.jcms.2010.02.006" "Revista" => array:6 [ "tituloSerie" => "J Craniomaxillofac Surg." 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 19 | 13 | 32 |
| 2024 October | 177 | 71 | 248 |
| 2024 September | 267 | 79 | 346 |
