Case for Diagnosis
Can You Identify the Genodermatosis?
¿Qué genodermatosis es?
R. Santesteban Muruzábal
, M. Hervella Garcés, C. Ros Martín
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Servicio de Dermatología, Hospital de Navarra, Complejo Hospitalario de Navarra, Pamplona, Navarre, Spain
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"apellidos" => "Ros Martín" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital de Navarra, Complejo Hospitalario de Navarra, Pamplona, Navarre, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "¿Qué genodermatosis es?" ] ] "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" => 500 "Ancho" => 977 "Tamanyo" => 227116 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A, Hematoxylin-eosin, original magnification ×100. B, Hematoxylin-eosin, original magnification ×200.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Patient History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 5-year-old boy from Colombia with no known family history of skin disease presented with asymptomatic lesions on the limbs, predominantly in acral regions and areas around the joints. His family reported slow, peripheral growth of the lesions over the past few months but were unable to specify exactly when the clinical signs first appeared. No other associated symptoms were present at any level.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Physical examination revealed keratotic, lichenoid plaques with mild peripheral erythema affecting the hips, acral regions, and areas around the joints on all 4 limbs, especially on extensor surfaces (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The development of the boy was normal for his age.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">Histologic examination revealed hyperkeratosis with focal parakeratosis, hypergranulosis, and acanthosis with elongated rete ridges (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis?</span></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Diagnosis</span><p id="par0025" class="elsevierStylePara elsevierViewall">Progressive symmetric erythrokeratoderma (PSEK).</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Clinical Course and Treatment</span><p id="par0030" class="elsevierStylePara elsevierViewall">Topical treatment was started with 20% urea cream and systemic treatment was started with oral acitretin at a dose of 0.5<span class="elsevierStyleHsp" style=""></span>mg/kg/d. Patient tolerance was good. Over several months, the lesions clearly involuted until they were limited to the acral regions of the limbs and the flexures, with a minimal effective dose of 0.3<span class="elsevierStyleHsp" style=""></span>mg/kg/d. Periodic blood tests were carried out at follow-up visits, and no abnormalities caused by the treatment were observed. Adherence to treatment has been erratic over several years of follow-up at our dermatology clinic; periods of evident exacerbation have coincided with the voluntary withdrawal of the medication. The patient, now 14 years old, continues to receive treatment with acitretin at a minimum effective dose of 0.3<span class="elsevierStyleHsp" style=""></span>mg/kg/d (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Comment</span><p id="par0035" class="elsevierStylePara elsevierViewall">Erythrokeratodermas are a clinically and genetically heterogeneous group of skin diseases characterized by well-defined erythematous-keratotic plaques.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1–3</span></a> There are various subtypes, the most important of which are PSEK and erythrokeratoderma variabilis.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4–6</span></a> PSEK is a rare genodermatosis that has been associated with a mutation in the loricrin gene on chromosome 1q21,<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,4,5</span></a> although it is genetically heterogeneous.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> In most cases, PSEK is hereditary, with autosomal dominant inheritance, incomplete penetrance, and variable expressivity,<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2,6</span></a> although sporadic cases<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,6</span></a> and cases with a recessive inheritance pattern<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> have also been reported.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Clinically, PSEK is characterized by the appearance of large, erythematous, orange-colored, well-defined, symmetrical plaques that in some cases can have a keratotic or verrucous appearance, usually located on the buttocks, cheeks, and limbs.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,6</span></a> Palmoplantar involvement has been reported in up to 50% of cases.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,6</span></a> The lesions usually appear in the first years of life and spread slowly or remain stable during the following years; spontaneous improvement sometimes occurs, usually during puberty.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,6</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Histologic findings are nonspecific, with foci of parakeratosis and marked acanthosis.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,4</span></a> Perinuclear vacuolization can be observed in the granular cell layer.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">PSEK is treated symptomatically. Topical treatments—including emollients and keratolytic agents—are reserved for the mildest cases.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,4</span></a> For severe cases, systemic treatment—oral retinoids, such as acitretin at a dose of 0.5<span class="elsevierStyleHsp" style=""></span>mg/kg/d—is usually added. Psoralen-UV-A phototherapy has also been used, with variable clinical responses.<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,4</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">We have presented a new case of PSEK, a rare entity. The case is unusual because it is sporadic, autosomal dominant inheritance being more common in this disease.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Conflicts of Interest</span><p id="par0060" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:8 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Patient History" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical Examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Histopathology" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Diagnosis" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Clinical Course and Treatment" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Comment" ] 6 => array:2 [ "identificador" => "sec0035" "titulo" => "Conflicts of Interest" ] 7 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Santesteban Muruzábal R, Hervella Garcés M, Ros Martín C. ¿Qué genodermatosis es?. Actas Dermosifiliogr. 2014;106:667–668.</p>" ] ] "multimedia" => array:3 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 500 "Ancho" => 913 "Tamanyo" => 109098 ] ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 500 "Ancho" => 977 "Tamanyo" => 227116 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A, Hematoxylin-eosin, original magnification ×100. B, Hematoxylin-eosin, original magnification ×200.</p>" ] ] 2 => array:6 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 500 "Ancho" => 605 "Tamanyo" => 87637 ] ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Progressive symmetrical erythrokeratoderma - response to topical calcipotriol" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "I. Bilgin" 1 => "K.E. Bozdag" 2 => "S. Uysal" 3 => "M. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 7 | 8 | 15 |
| 2024 Octubre | 63 | 48 | 111 |
| 2024 Septiembre | 58 | 34 | 92 |
| 2024 Agosto | 82 | 46 | 128 |
| 2024 Julio | 76 | 52 | 128 |
| 2024 Junio | 78 | 36 | 114 |
| 2024 Mayo | 67 | 47 | 114 |
| 2024 Abril | 82 | 22 | 104 |
| 2024 Marzo | 79 | 41 | 120 |
| 2024 Febrero | 77 | 31 | 108 |
| 2024 Enero | 62 | 33 | 95 |
| 2023 Diciembre | 64 | 21 | 85 |
| 2023 Noviembre | 80 | 32 | 112 |
| 2023 Octubre | 71 | 35 | 106 |
| 2023 Septiembre | 76 | 40 | 116 |
| 2023 Agosto | 54 | 25 | 79 |
| 2023 Julio | 83 | 43 | 126 |
| 2023 Junio | 57 | 40 | 97 |
| 2023 Mayo | 65 | 42 | 107 |
| 2023 Abril | 96 | 22 | 118 |
| 2023 Marzo | 70 | 22 | 92 |
| 2023 Febrero | 88 | 27 | 115 |
| 2023 Enero | 41 | 44 | 85 |
| 2022 Diciembre | 61 | 48 | 109 |
| 2022 Noviembre | 39 | 29 | 68 |
| 2022 Octubre | 31 | 29 | 60 |
| 2022 Septiembre | 39 | 32 | 71 |
| 2022 Agosto | 28 | 40 | 68 |
| 2022 Julio | 30 | 42 | 72 |
| 2022 Junio | 22 | 25 | 47 |
| 2022 Mayo | 88 | 36 | 124 |
| 2022 Abril | 101 | 61 | 162 |
| 2022 Marzo | 88 | 53 | 141 |
| 2022 Febrero | 53 | 33 | 86 |
| 2022 Enero | 74 | 41 | 115 |
| 2021 Diciembre | 64 | 42 | 106 |
| 2021 Noviembre | 72 | 64 | 136 |
| 2021 Octubre | 81 | 51 | 132 |
| 2021 Septiembre | 51 | 31 | 82 |
| 2021 Agosto | 43 | 24 | 67 |
| 2021 Julio | 48 | 31 | 79 |
| 2021 Junio | 58 | 29 | 87 |
| 2021 Mayo | 55 | 26 | 81 |
| 2021 Abril | 154 | 52 | 206 |
| 2021 Marzo | 125 | 21 | 146 |
| 2021 Febrero | 89 | 28 | 117 |
| 2021 Enero | 54 | 20 | 74 |
| 2020 Diciembre | 74 | 18 | 92 |
| 2020 Noviembre | 49 | 19 | 68 |
| 2020 Octubre | 44 | 9 | 53 |
| 2020 Septiembre | 84 | 19 | 103 |
| 2020 Agosto | 36 | 26 | 62 |
| 2020 Julio | 32 | 18 | 50 |
| 2020 Junio | 26 | 33 | 59 |
| 2020 Mayo | 21 | 19 | 40 |
| 2020 Abril | 35 | 15 | 50 |
| 2020 Marzo | 25 | 17 | 42 |
| 2020 Febrero | 3 | 8 | 11 |
| 2020 Enero | 6 | 0 | 6 |
| 2019 Diciembre | 8 | 1 | 9 |
| 2019 Noviembre | 4 | 1 | 5 |
| 2019 Octubre | 0 | 3 | 3 |
| 2019 Septiembre | 4 | 0 | 4 |
| 2019 Agosto | 4 | 7 | 11 |
| 2019 Julio | 4 | 3 | 7 |
| 2019 Junio | 4 | 14 | 18 |
| 2019 Mayo | 6 | 10 | 16 |
| 2019 Abril | 2 | 9 | 11 |
| 2019 Marzo | 4 | 4 | 8 |
| 2019 Febrero | 0 | 2 | 2 |
| 2019 Enero | 2 | 2 | 4 |
| 2018 Diciembre | 5 | 5 | 10 |
| 2018 Noviembre | 1 | 2 | 3 |
| 2018 Octubre | 2 | 0 | 2 |
| 2018 Septiembre | 6 | 0 | 6 |
| 2018 Marzo | 0 | 1 | 1 |
| 2018 Febrero | 20 | 5 | 25 |
| 2018 Enero | 24 | 3 | 27 |
| 2017 Diciembre | 28 | 12 | 40 |
| 2017 Noviembre | 17 | 3 | 20 |
| 2017 Octubre | 21 | 7 | 28 |
| 2017 Septiembre | 16 | 2 | 18 |
| 2017 Agosto | 22 | 7 | 29 |
| 2017 Julio | 16 | 8 | 24 |
| 2017 Junio | 25 | 5 | 30 |
| 2017 Mayo | 22 | 11 | 33 |
| 2017 Abril | 19 | 5 | 24 |
| 2017 Marzo | 6 | 5 | 11 |
| 2017 Febrero | 19 | 11 | 30 |
| 2017 Enero | 13 | 2 | 15 |
| 2016 Diciembre | 24 | 6 | 30 |
| 2016 Noviembre | 29 | 11 | 40 |
| 2016 Octubre | 29 | 14 | 43 |
| 2016 Septiembre | 0 | 2 | 2 |
| 2016 Julio | 2 | 3 | 5 |
| 2016 Junio | 4 | 2 | 6 |
| 2016 Mayo | 0 | 4 | 4 |
| 2016 Abril | 4 | 1 | 5 |
| 2016 Marzo | 0 | 7 | 7 |
| 2016 Febrero | 0 | 1 | 1 |
| 2016 Enero | 0 | 10 | 10 |
| 2015 Diciembre | 0 | 1 | 1 |
| 2015 Noviembre | 0 | 4 | 4 |
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