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Armengot-Carbó, B. Rodrigo-Nicolás, E. Gimeno-Carpio" "autores" => array:3 [ 0 => array:4 [ "nombre" => "M." "apellidos" => "Armengot-Carbó" "email" => array:1 [ 0 => "miquelarmengot@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "B." "apellidos" => "Rodrigo-Nicolás" ] 2 => array:2 [ "nombre" => "E." "apellidos" => "Gimeno-Carpio" ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Servicio de Dermatología, Hospital Arnau de Vilanova, Valencia, Spain" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Hiperpigmentación reticulada y aplasia medular" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1970 "Ancho" => 1417 "Tamanyo" => 273191 ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Medical History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A man and his son had been examined at our dermatology department 19 years earlier for reticulate hyperpigmentation of the neck. The father had not attended subsequent follow-ups but was recently referred to our clinic by the hematology department, where he was being followed for neutropenia and thrombopenia. His son had died of severe aplastic anemia.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">When the patient was 28 years old, he developed reticulate hyperpigmentation of the neck and upper trunk, with palmoplantar hyperkeratosis and hyperhidrosis and nail dystrophy (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). His son (aged 8 years at the time) also began to experience similar pigmentary changes and nail dystrophy.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">At the time of the current referral (the patient is now 47 years old), the reticulate pigmentation had spread, numerous teeth had been lost, and a small patch of leukoplakia had appeared on the buccal mucosa (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Histopathology</span><p id="par0020" class="elsevierStylePara elsevierViewall">A mucosal biopsy showed a thinned epidermis with melanophages in the superficial dermis.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Additional Tests</span><p id="par0025" class="elsevierStylePara elsevierViewall">Blood tests showed neutropenia and thrombopenia. A bone-marrow biopsy revealed grade 2 aplastic anemia with loss of the megakaryocytic series and a reduction in the number of granulocytes. A peripheral blood karyotype was normal and mitomycin C did not induce chromosome breakage.</p><p id="par0030" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis?</span></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Diagnosis</span><p id="par0035" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Clinical Course and Treatment</span><p id="par0040" class="elsevierStylePara elsevierViewall">Periodic follow-up visits with a dermatologist were begun again so that malignant growths could be detected early. The hematology department closely monitored the patient's hematologic disorders and introduced treatment with thrombopoiesis-stimulating factors.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Comment</span><p id="par0045" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita, also known as Zinsser-Engman-Cole syndrome, is a genodermatosis with severe multisystem complications characterized by reticulate skin pigmentation, nail dystrophy, and leukoplakia.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Telomere maintenance molecule defects are present. The underlying genetic abnormality is heterogeneous, and several mutations of the telomerase complex have been described.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a> X-linked recessive, autosomal dominant, and autosomal recessive inheritance patterns have been observed; the first of the three is the most common. In the case we describe, the information available (male patient whose son had the syndrome even though he was not the offspring of a consanguineous relationship) suggest autosomal dominant transmission. This inheritance pattern has been linked to anticipation, whereby symptoms appear earlier and are more severe in successive generations, in relation to progressive telomere shortening.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">The prognosis of patients with dyskeratosis congenita is poor. Bone marrow failure (which occurs in up to 50% of cases) and a predisposition to malignant neoplasms (especially epidermoid carcinomas in areas of leukoplakia) are the main causes of early death in these patients.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Among the many other clinical findings that have also been described are palmoplantar hyperkeratosis, hyperhidrosis, premature graying of hair, epiphora, caries and tooth loss, mental retardation, short stature, lung involvement, and liver fibrosis.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2,5</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Fanconi anemia, Naegeli-Franceschetti-Jadassohn syndrome, and dermatopathia pigmentosa reticularis must be considered in the differential diagnosis.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Fanconi anemia also manifests with pancytopenia, pigmentary disorders, and predisposition to malignancies. It is, however, a more diffuse hypermelanosis associated with bone abnormalities and chromosome breakage induced by mitomycin C. Naegeli-Franceschetti-Jadassohn syndrome has no leukoplakia or bone marrow involvement and reticulate hyperpigmentation disappears in adolescence. Although dermatopathia pigmentosa reticularis also involves hyperpigmentation and onychodystrophy, it is characterized by the presence of nonscarring alopecia and absence of bone-marrow involvement.</p><p id="par0060" class="elsevierStylePara elsevierViewall">An interdisciplinary approach is recommended to treat the complications these patients may develop. Close follow-up by a dermatologist is required for early detection of epidermoid carcinomas in areas of leukoplakia.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Conflicts of Interest</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Medical History" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical Examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Histopathology" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Additional Tests" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Diagnosis" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Clinical Course and Treatment" ] 6 => array:2 [ "identificador" => "sec0035" "titulo" => "Comment" ] 7 => array:2 [ "identificador" => "sec0040" "titulo" => "Conflicts of Interest" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara">Please cite this article as: Armengot-Carbó M, et al. Hiperpigmentación reticulada y aplasia medular. Actas Dermosifiliogr. 2013;104:249–50.</p>" ] ] "multimedia" => array:2 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1118 "Ancho" => 1585 "Tamanyo" => 182163 ] ] ] 1 => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1970 "Ancho" => 1417 "Tamanyo" => 273191 ] ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Carcinoma espinocelular de la mucosa oral y pancitopenia en paciente con disqueratosis congénita no diagnosticada previamente" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "P. 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---|---|---|---|
2024 November | 12 | 13 | 25 |
2024 October | 64 | 47 | 111 |
2024 September | 82 | 24 | 106 |
2024 August | 92 | 48 | 140 |
2024 July | 83 | 35 | 118 |
2024 June | 93 | 50 | 143 |
2024 May | 95 | 36 | 131 |
2024 April | 83 | 40 | 123 |
2024 March | 90 | 36 | 126 |
2024 February | 73 | 29 | 102 |
2024 January | 75 | 33 | 108 |
2023 December | 104 | 26 | 130 |
2023 November | 96 | 24 | 120 |
2023 October | 97 | 35 | 132 |
2023 September | 103 | 33 | 136 |
2023 August | 71 | 18 | 89 |
2023 July | 91 | 29 | 120 |
2023 June | 95 | 28 | 123 |
2023 May | 83 | 28 | 111 |
2023 April | 80 | 20 | 100 |
2023 March | 74 | 20 | 94 |
2023 February | 82 | 23 | 105 |
2023 January | 57 | 35 | 92 |
2022 December | 79 | 37 | 116 |
2022 November | 41 | 16 | 57 |
2022 October | 46 | 28 | 74 |
2022 September | 33 | 43 | 76 |
2022 August | 50 | 46 | 96 |
2022 July | 42 | 45 | 87 |
2022 June | 48 | 41 | 89 |
2022 May | 108 | 35 | 143 |
2022 April | 101 | 44 | 145 |
2022 March | 73 | 49 | 122 |
2022 February | 73 | 32 | 105 |
2022 January | 63 | 30 | 93 |
2021 December | 69 | 44 | 113 |
2021 November | 99 | 45 | 144 |
2021 October | 94 | 54 | 148 |
2021 September | 104 | 53 | 157 |
2021 August | 66 | 29 | 95 |
2021 July | 51 | 40 | 91 |
2021 June | 81 | 27 | 108 |
2021 May | 62 | 30 | 92 |
2021 April | 117 | 49 | 166 |
2021 March | 72 | 24 | 96 |
2021 February | 65 | 31 | 96 |
2021 January | 40 | 16 | 56 |
2020 December | 34 | 9 | 43 |
2020 November | 19 | 20 | 39 |
2020 October | 33 | 9 | 42 |
2020 September | 28 | 8 | 36 |
2020 August | 21 | 18 | 39 |
2020 July | 33 | 12 | 45 |
2020 June | 29 | 18 | 47 |
2020 May | 20 | 11 | 31 |
2020 April | 29 | 19 | 48 |
2020 March | 27 | 13 | 40 |
2020 February | 3 | 1 | 4 |
2020 January | 0 | 1 | 1 |
2019 December | 4 | 3 | 7 |
2019 November | 0 | 1 | 1 |
2019 October | 0 | 1 | 1 |
2019 September | 4 | 1 | 5 |
2019 July | 0 | 1 | 1 |
2019 June | 2 | 0 | 2 |
2019 May | 2 | 11 | 13 |
2019 March | 2 | 12 | 14 |
2019 January | 2 | 0 | 2 |
2018 December | 2 | 0 | 2 |
2018 November | 3 | 0 | 3 |
2018 October | 3 | 0 | 3 |
2018 September | 5 | 0 | 5 |
2018 April | 1 | 0 | 1 |
2018 March | 3 | 1 | 4 |
2018 February | 42 | 4 | 46 |
2018 January | 51 | 12 | 63 |
2017 December | 86 | 8 | 94 |
2017 November | 51 | 4 | 55 |
2017 October | 50 | 4 | 54 |
2017 September | 78 | 4 | 82 |
2017 August | 115 | 6 | 121 |
2017 July | 91 | 5 | 96 |
2017 June | 117 | 10 | 127 |
2017 May | 102 | 6 | 108 |
2017 April | 104 | 8 | 112 |
2017 March | 54 | 4 | 58 |
2017 February | 56 | 5 | 61 |
2017 January | 58 | 4 | 62 |
2016 December | 68 | 10 | 78 |
2016 November | 74 | 10 | 84 |
2016 October | 97 | 13 | 110 |
2016 September | 107 | 13 | 120 |
2016 August | 87 | 15 | 102 |
2016 July | 68 | 4 | 72 |
2016 June | 8 | 7 | 15 |
2016 May | 5 | 7 | 12 |
2016 April | 3 | 9 | 12 |
2016 March | 5 | 10 | 15 |
2016 February | 8 | 14 | 22 |
2016 January | 6 | 12 | 18 |
2015 December | 6 | 8 | 14 |
2015 November | 18 | 12 | 30 |
2015 October | 7 | 8 | 15 |
2015 September | 6 | 6 | 12 |
2015 August | 16 | 4 | 20 |
2015 July | 93 | 114 | 207 |
2015 June | 73 | 7 | 80 |
2015 May | 88 | 18 | 106 |
2015 April | 71 | 8 | 79 |
2015 March | 30 | 2 | 32 |
2015 February | 26 | 8 | 34 |
2015 January | 30 | 4 | 34 |
2014 December | 29 | 8 | 37 |
2014 November | 37 | 8 | 45 |
2014 October | 50 | 11 | 61 |
2014 September | 32 | 6 | 38 |
2014 August | 33 | 4 | 37 |
2014 July | 40 | 8 | 48 |
2014 June | 47 | 9 | 56 |
2014 May | 49 | 14 | 63 |
2014 April | 37 | 4 | 41 |
2014 March | 38 | 8 | 46 |
2014 February | 43 | 6 | 49 |
2014 January | 45 | 7 | 52 |
2013 December | 31 | 10 | 41 |
2013 November | 33 | 7 | 40 |
2013 October | 23 | 1 | 24 |
2013 September | 12 | 3 | 15 |
2013 August | 21 | 2 | 23 |
2013 July | 4 | 1 | 5 |
2013 June | 4 | 4 | 8 |
2013 May | 1 | 1 | 2 |
2013 April | 2 | 4 | 6 |