Case for Diagnosis
Can You Identify the Genodermatosis?
¿Qué genodermatosis es?
R. Santesteban Muruzábal
, M. Hervella Garcés, C. Ros Martín
Corresponding author
Servicio de Dermatología, Hospital de Navarra, Complejo Hospitalario de Navarra, Pamplona, Navarre, Spain
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"tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "667" "paginaFinal" => "668" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "R. Santesteban Muruzábal, M. Hervella Garcés, C. Ros Martín" "autores" => array:3 [ 0 => array:4 [ "nombre" => "R." "apellidos" => "Santesteban Muruzábal" "email" => array:1 [ 0 => "raquel.santesteban@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "M." "apellidos" => "Hervella Garcés" ] 2 => array:2 [ "nombre" => "C." "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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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 8 | 14 |
| 2024 October | 63 | 48 | 111 |
| 2024 September | 58 | 34 | 92 |
| 2024 August | 82 | 46 | 128 |
| 2024 July | 76 | 52 | 128 |
| 2024 June | 78 | 36 | 114 |
| 2024 May | 67 | 47 | 114 |
| 2024 April | 82 | 22 | 104 |
| 2024 March | 79 | 41 | 120 |
| 2024 February | 77 | 31 | 108 |
| 2024 January | 62 | 33 | 95 |
| 2023 December | 64 | 21 | 85 |
| 2023 November | 80 | 32 | 112 |
| 2023 October | 71 | 35 | 106 |
| 2023 September | 76 | 40 | 116 |
| 2023 August | 54 | 25 | 79 |
| 2023 July | 83 | 43 | 126 |
| 2023 June | 57 | 40 | 97 |
| 2023 May | 65 | 42 | 107 |
| 2023 April | 96 | 22 | 118 |
| 2023 March | 70 | 22 | 92 |
| 2023 February | 88 | 27 | 115 |
| 2023 January | 41 | 44 | 85 |
| 2022 December | 61 | 48 | 109 |
| 2022 November | 39 | 29 | 68 |
| 2022 October | 31 | 29 | 60 |
| 2022 September | 39 | 32 | 71 |
| 2022 August | 28 | 40 | 68 |
| 2022 July | 30 | 42 | 72 |
| 2022 June | 22 | 25 | 47 |
| 2022 May | 88 | 36 | 124 |
| 2022 April | 101 | 61 | 162 |
| 2022 March | 88 | 53 | 141 |
| 2022 February | 53 | 33 | 86 |
| 2022 January | 74 | 41 | 115 |
| 2021 December | 64 | 42 | 106 |
| 2021 November | 72 | 64 | 136 |
| 2021 October | 81 | 51 | 132 |
| 2021 September | 51 | 31 | 82 |
| 2021 August | 43 | 24 | 67 |
| 2021 July | 48 | 31 | 79 |
| 2021 June | 58 | 29 | 87 |
| 2021 May | 55 | 26 | 81 |
| 2021 April | 154 | 52 | 206 |
| 2021 March | 125 | 21 | 146 |
| 2021 February | 89 | 28 | 117 |
| 2021 January | 54 | 20 | 74 |
| 2020 December | 74 | 18 | 92 |
| 2020 November | 49 | 19 | 68 |
| 2020 October | 44 | 9 | 53 |
| 2020 September | 84 | 19 | 103 |
| 2020 August | 36 | 26 | 62 |
| 2020 July | 32 | 18 | 50 |
| 2020 June | 26 | 33 | 59 |
| 2020 May | 21 | 19 | 40 |
| 2020 April | 35 | 15 | 50 |
| 2020 March | 25 | 17 | 42 |
| 2020 February | 3 | 8 | 11 |
| 2020 January | 6 | 0 | 6 |
| 2019 December | 8 | 1 | 9 |
| 2019 November | 4 | 1 | 5 |
| 2019 October | 0 | 3 | 3 |
| 2019 September | 4 | 0 | 4 |
| 2019 August | 4 | 7 | 11 |
| 2019 July | 4 | 3 | 7 |
| 2019 June | 4 | 14 | 18 |
| 2019 May | 6 | 10 | 16 |
| 2019 April | 2 | 9 | 11 |
| 2019 March | 4 | 4 | 8 |
| 2019 February | 0 | 2 | 2 |
| 2019 January | 2 | 2 | 4 |
| 2018 December | 5 | 5 | 10 |
| 2018 November | 1 | 2 | 3 |
| 2018 October | 2 | 0 | 2 |
| 2018 September | 6 | 0 | 6 |
| 2018 March | 0 | 1 | 1 |
| 2018 February | 20 | 5 | 25 |
| 2018 January | 24 | 3 | 27 |
| 2017 December | 28 | 12 | 40 |
| 2017 November | 17 | 3 | 20 |
| 2017 October | 21 | 7 | 28 |
| 2017 September | 16 | 2 | 18 |
| 2017 August | 22 | 7 | 29 |
| 2017 July | 16 | 8 | 24 |
| 2017 June | 25 | 5 | 30 |
| 2017 May | 22 | 11 | 33 |
| 2017 April | 19 | 5 | 24 |
| 2017 March | 6 | 5 | 11 |
| 2017 February | 19 | 11 | 30 |
| 2017 January | 13 | 2 | 15 |
| 2016 December | 24 | 6 | 30 |
| 2016 November | 29 | 11 | 40 |
| 2016 October | 29 | 14 | 43 |
| 2016 September | 0 | 2 | 2 |
| 2016 July | 2 | 3 | 5 |
| 2016 June | 4 | 2 | 6 |
| 2016 May | 0 | 4 | 4 |
| 2016 April | 4 | 1 | 5 |
| 2016 March | 0 | 7 | 7 |
| 2016 February | 0 | 1 | 1 |
| 2016 January | 0 | 10 | 10 |
| 2015 December | 0 | 1 | 1 |
| 2015 November | 0 | 4 | 4 |
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