Case and Research Letter
Acral Peeling Skin Syndrome: A Case Report and Literature Review
Síndrome de descamación de la piel acral: presentación de un caso y revisión bibliográfica
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Ruiz Rivero, M. Campos Dominguez, V. Parra Blanco, R. Suárez Fernández" "autores" => array:4 [ 0 => array:4 [ "nombre" => "J." "apellidos" => "Ruiz Rivero" "email" => array:1 [ 0 => "juncalrr@gmail.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" => "M." "apellidos" => "Campos Dominguez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "V." "apellidos" => "Parra Blanco" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "R." "apellidos" => "Suárez Fernández" "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 Venereología, Hospital General Universitario Gregorio Marañón, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Anatomía Patológica, Hospital General Universitario Gregorio Marañón, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de descamación de la piel acral: presentación de un caso y revisión bibliográfica" ] ] "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" => 589 "Ancho" => 1505 "Tamanyo" => 132925 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Blisters and areas of erythema on the palms. A, General view. B, Detail of the lesions.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Acral peeling skin syndrome (APSS) is a condition with autosomal dominant inheritance, caused by changes in gene <span class="elsevierStyleItalic">TG5</span>, responsible for the production of transglutaminase 5 (TG5).<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> It presents at birth or in early childhood with the formation of blisters and subsequent peeling on the palms and soles. As the disease has a low incidence and little or no clinical repercussion, it tends to be underdiagnosed or incorrectly diagnosed as epidermolysis bullosa simplex, with which it shares certain characteristics.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a 3-year-old boy who, since 6 months of age, presented blisters with subsequent peeling on the palms and soles and, to a lesser degree, on the dorsum of the hands and feet. The episodes were asymptomatic and occurred with a frequency of once or twice a month; humidity exacerbated the condition. On physical examination, the patient presented tense and flaccid blisters in pressure areas, associated with peeling on the palms and soles (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1 and 2</a>) and resolving areas with residual erythema. The rest of the skin and the mucosas were normal. Skin biopsy showed slight separation between the granular and corneal layers, with no inflammation (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). In the stratum corneum, the intermediate cell layers above the plane of cleavage presented an unstructured appearance, with large round cells. The clinical and histopathologic findings were consistent with a diagnosis of APSS. Genetic analysis confirmed this hypothesis, as the patient presented 2 homozygous mutations of gene <span class="elsevierStyleItalic">TG5</span>: 1 pathogenic (P.G113<span class="elsevierStyleHsp" style=""></span>C) and the other a polymorphism (P.T109H) frequently associated with the former.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">APSS belongs to the group of peeling skin syndromes (PSS), which include a localized acral form (APSS) and a diffuse form.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3–5</span></a> APSS was first described as a specific entity in 1982 by Levy and Goldsmith.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> Since that time, several individual case reports and case series of this syndrome have been published (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). It characterized by the formation of blisters and superficial peeling of the skin of the palms and soles, leaving a painless residual erythema that heals without scarring. The manifestations are exacerbated by humidity and by physical factors such as trauma or friction. In general, symptoms are absent or mild. In addition, APSS presents a number of histopathologic characteristics. The main finding is separation between the granular and corneal layers. Another common feature, observed in the stratum corneum above the plane of separation with the granular layer, is the presence of several layers of cells of atypical appearance: large, round, pale cells with an edematous and less compact appearance. Electron microscopy provides a better image of the separation between the corneocytes in these layers, with fragmentation of the keratin filaments.<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">7,8</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The underlying genetic mechanism was elucidated by Cassidy et al.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> in 2005. Those authors identified the mutation responsible for the syndrome, localized in gene <span class="elsevierStyleItalic">TG5</span> on chromosome 15q15. This gene codes a protein, TG5, whose function is altered in the patients with this syndrome.</p><p id="par0025" class="elsevierStylePara elsevierViewall">TG5 is expressed in the corneal layer and is responsible for the formation of crosslinks between key proteins in the cornification process (loricrin, involucrin, filaggrin, and others); it is also essential for maintenance of an intact corneal layer.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,4,8</span></a> Analysis of healthy skin from individuals with APSS shows that the mutation is not exclusive to the acral skin areas, but it is hypothesized that the other transglutaminases present in the skin, in different proportions depending on the site, are sufficient to complete the cornification process. The absence of TG5 action cannot be sufficiently compensated in the skin of the palms and soles, where the corneal layer is thicker and is subject to greater pressures.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Two mutations have been described that, when homozygous, give rise to the syndrome. The first of these is mutation G113<span class="elsevierStyleHsp" style=""></span>C, which causes complete abolition of TG5 function. The other is T109<span class="elsevierStyleHsp" style=""></span>M, which alone is not pathogenic, but is a polymorphism affecting the same allele, and that is frequently associated with the G113<span class="elsevierStyleHsp" style=""></span>C mutation. This combination has been described in various patients from northern and central Europe, and it has been postulated that it is the result of a founder phenomenon in the European population. Fifty-nine cases with 15 new mutations affecting <span class="elsevierStyleItalic">TG5</span> have recently been described,<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a> as well as a mutation of the protein cystatin A, alterations of which also cause manifestations of APSS.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Treatment is symptomatic, with emollients and measures aimed at reducing maceration and trauma.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflicts of Interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflicts of Interest" ] 1 => array:2 [ "identificador" => "xack277350" "titulo" => "Acknowledgments" ] 2 => 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: Ruiz Rivero J, Campos Dominguez M, Parra Blanco V, Suárez Fernández R. Síndrome de descamación de la piel acral: presentación de un caso y revisión bibliográfica. Actas Dermosifiliogr. 2016;107:702–704.</p>" ] ] "multimedia" => array:4 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 589 "Ancho" => 1505 "Tamanyo" => 132925 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Blisters and areas of erythema on the palms. A, General view. B, Detail of the lesions.</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" => 531 "Ancho" => 1491 "Tamanyo" => 93235 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Blisters and peeling on the soles of the feet and in pressure areas. A, General view. B, Detail of the lesions.</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" => 696 "Ancho" => 1505 "Tamanyo" => 286927 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">A, Separation between the corneal and granular layers of the epidermis. Hematoxylin and eosin (H&E), original magnification<span class="elsevierStyleHsp" style=""></span>×10. B, Detail at higher magnification. Observe the appearance of the corneal layer above the plane of separation, with large round cells. H&E, original magnification<span class="elsevierStyleHsp" style=""></span>×20.</p>" ] ] 3 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Abbreviation: APSS, acral peeling skin syndrome.</p>" "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Countries/regions reported \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Germany, United Kingdom, The Netherlands, Poland, Italy, Spain, Russia, Hungary, Slovakia, Finland, Sweden, East Africa, Tunisia, Middle East, Morocco, and Jordan \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Age at onset of symptoms \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">From birth to 11 years \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Age at time of diagnosis \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">From 1 to 47 years \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Most common signs \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Blisters and peeling of palms and soles, and dorsum of hands and feet \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Exacerbating factors \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Humidity, sweating, heat, friction, and trauma \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Mutations most frequently reported \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">p.[Gly113Cys];[Gly113Cys]<br>Heterozygous p.[Gly113Cys]<br>p.[Met1Thr];[Met1Thr]<br>p.[Lys445Asn];[Lys445Asn]<br>p.[Val273Met];[Val273Met]<br>p.[Thr109His];[Thr109His] \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1390656.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Summary of the Most Relevant Findings of the Cases of APSS Published to Date.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A.J. 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Goldsmith" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Am Acad Dermatol" "fecha" => "1982" "volumen" => "7" "paginaInicial" => "606" "paginaFinal" => "613" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7142468" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0085" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Acral peeling skin syndrome in two East-African siblings: Case report" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "S.K. Kiprono" 1 => "B.M. Chaula" 2 => "B. Naafs" 3 => "J.E. 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| año/Mes | Html | Total | |
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| 2024 Noviembre | 44 | 11 | 55 |
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| 2023 Octubre | 446 | 33 | 479 |
| 2023 Septiembre | 373 | 50 | 423 |
| 2023 Agosto | 357 | 31 | 388 |
| 2023 Julio | 326 | 57 | 383 |
| 2023 Junio | 410 | 39 | 449 |
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| 2022 Diciembre | 213 | 75 | 288 |
| 2022 Noviembre | 126 | 37 | 163 |
| 2022 Octubre | 85 | 34 | 119 |
| 2022 Septiembre | 106 | 38 | 144 |
| 2022 Agosto | 127 | 42 | 169 |
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| 2022 Marzo | 418 | 56 | 474 |
| 2022 Febrero | 210 | 38 | 248 |
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| 2021 Diciembre | 168 | 41 | 209 |
| 2021 Noviembre | 196 | 53 | 249 |
| 2021 Octubre | 226 | 62 | 288 |
| 2021 Septiembre | 215 | 52 | 267 |
| 2021 Agosto | 205 | 39 | 244 |
| 2021 Julio | 188 | 35 | 223 |
| 2021 Junio | 199 | 39 | 238 |
| 2021 Mayo | 214 | 53 | 267 |
| 2021 Abril | 612 | 80 | 692 |
| 2021 Marzo | 251 | 38 | 289 |
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| 2021 Enero | 204 | 28 | 232 |
| 2020 Diciembre | 159 | 19 | 178 |
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| 2020 Octubre | 84 | 19 | 103 |
| 2020 Septiembre | 138 | 27 | 165 |
| 2020 Agosto | 82 | 24 | 106 |
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| 2020 Junio | 77 | 25 | 102 |
| 2020 Mayo | 60 | 18 | 78 |
| 2020 Abril | 57 | 18 | 75 |
| 2020 Marzo | 47 | 8 | 55 |
| 2020 Febrero | 3 | 0 | 3 |
| 2020 Enero | 5 | 0 | 5 |
| 2019 Diciembre | 8 | 0 | 8 |
| 2019 Noviembre | 4 | 0 | 4 |
| 2019 Septiembre | 4 | 0 | 4 |
| 2019 Agosto | 4 | 0 | 4 |
| 2019 Julio | 4 | 0 | 4 |
| 2019 Junio | 6 | 0 | 6 |
| 2019 Mayo | 5 | 1 | 6 |
| 2019 Abril | 3 | 5 | 8 |
| 2019 Marzo | 4 | 0 | 4 |
| 2019 Febrero | 4 | 0 | 4 |
| 2019 Enero | 4 | 2 | 6 |
| 2018 Diciembre | 4 | 0 | 4 |
| 2018 Noviembre | 3 | 0 | 3 |
| 2018 Octubre | 4 | 0 | 4 |
| 2018 Septiembre | 3 | 0 | 3 |
| 2018 Abril | 1 | 0 | 1 |
| 2018 Febrero | 48 | 3 | 51 |
| 2018 Enero | 74 | 20 | 94 |
| 2017 Diciembre | 63 | 12 | 75 |
| 2017 Noviembre | 54 | 13 | 67 |
| 2017 Octubre | 52 | 22 | 74 |
| 2017 Septiembre | 44 | 15 | 59 |
| 2017 Agosto | 29 | 7 | 36 |
| 2017 Julio | 39 | 14 | 53 |
| 2017 Junio | 43 | 15 | 58 |
| 2017 Mayo | 43 | 15 | 58 |
| 2017 Abril | 32 | 14 | 46 |
| 2017 Marzo | 26 | 16 | 42 |
| 2017 Febrero | 56 | 17 | 73 |
| 2017 Enero | 28 | 15 | 43 |
| 2016 Diciembre | 35 | 26 | 61 |
| 2016 Noviembre | 46 | 27 | 73 |
| 2016 Octubre | 199 | 29 | 228 |
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