Case for Diagnosis
Reticulate Hyperpigmentation and Medullary Aplasia
Hiperpigmentación reticulada y aplasia medular
M. Armengot-Carbó
, B. Rodrigo-Nicolás, E. Gimeno-Carpio
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Servicio de Dermatología, Hospital Arnau de Vilanova, Valencia, Spain
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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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Kocak" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/j.1601-5037.2009.00364.x" "Revista" => array:6 [ "tituloSerie" => "Int J Dent Hyg" "fecha" => "2010" "volumen" => "8" "paginaInicial" => "68" "paginaFinal" => "74" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20096085" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Trastornos de hiperpigmentación" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "C.R. Trout" 1 => "N. Levine" 2 => "M. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 11 | 13 | 24 |
| 2024 Octubre | 64 | 47 | 111 |
| 2024 Septiembre | 82 | 24 | 106 |
| 2024 Agosto | 92 | 48 | 140 |
| 2024 Julio | 83 | 35 | 118 |
| 2024 Junio | 93 | 50 | 143 |
| 2024 Mayo | 95 | 36 | 131 |
| 2024 Abril | 83 | 40 | 123 |
| 2024 Marzo | 90 | 36 | 126 |
| 2024 Febrero | 73 | 29 | 102 |
| 2024 Enero | 75 | 33 | 108 |
| 2023 Diciembre | 104 | 26 | 130 |
| 2023 Noviembre | 96 | 24 | 120 |
| 2023 Octubre | 97 | 35 | 132 |
| 2023 Septiembre | 103 | 33 | 136 |
| 2023 Agosto | 71 | 18 | 89 |
| 2023 Julio | 91 | 29 | 120 |
| 2023 Junio | 95 | 28 | 123 |
| 2023 Mayo | 83 | 28 | 111 |
| 2023 Abril | 80 | 20 | 100 |
| 2023 Marzo | 74 | 20 | 94 |
| 2023 Febrero | 82 | 23 | 105 |
| 2023 Enero | 57 | 35 | 92 |
| 2022 Diciembre | 79 | 37 | 116 |
| 2022 Noviembre | 41 | 16 | 57 |
| 2022 Octubre | 46 | 28 | 74 |
| 2022 Septiembre | 33 | 43 | 76 |
| 2022 Agosto | 50 | 46 | 96 |
| 2022 Julio | 42 | 45 | 87 |
| 2022 Junio | 48 | 41 | 89 |
| 2022 Mayo | 108 | 35 | 143 |
| 2022 Abril | 101 | 44 | 145 |
| 2022 Marzo | 73 | 49 | 122 |
| 2022 Febrero | 73 | 32 | 105 |
| 2022 Enero | 63 | 30 | 93 |
| 2021 Diciembre | 69 | 44 | 113 |
| 2021 Noviembre | 99 | 45 | 144 |
| 2021 Octubre | 94 | 54 | 148 |
| 2021 Septiembre | 104 | 53 | 157 |
| 2021 Agosto | 66 | 29 | 95 |
| 2021 Julio | 51 | 40 | 91 |
| 2021 Junio | 81 | 27 | 108 |
| 2021 Mayo | 62 | 30 | 92 |
| 2021 Abril | 117 | 49 | 166 |
| 2021 Marzo | 72 | 24 | 96 |
| 2021 Febrero | 65 | 31 | 96 |
| 2021 Enero | 40 | 16 | 56 |
| 2020 Diciembre | 34 | 9 | 43 |
| 2020 Noviembre | 19 | 20 | 39 |
| 2020 Octubre | 33 | 9 | 42 |
| 2020 Septiembre | 28 | 8 | 36 |
| 2020 Agosto | 21 | 18 | 39 |
| 2020 Julio | 33 | 12 | 45 |
| 2020 Junio | 29 | 18 | 47 |
| 2020 Mayo | 20 | 11 | 31 |
| 2020 Abril | 29 | 19 | 48 |
| 2020 Marzo | 27 | 13 | 40 |
| 2020 Febrero | 3 | 1 | 4 |
| 2020 Enero | 0 | 1 | 1 |
| 2019 Diciembre | 4 | 3 | 7 |
| 2019 Noviembre | 0 | 1 | 1 |
| 2019 Octubre | 0 | 1 | 1 |
| 2019 Septiembre | 4 | 1 | 5 |
| 2019 Julio | 0 | 1 | 1 |
| 2019 Junio | 2 | 0 | 2 |
| 2019 Mayo | 2 | 11 | 13 |
| 2019 Marzo | 2 | 12 | 14 |
| 2019 Enero | 2 | 0 | 2 |
| 2018 Diciembre | 2 | 0 | 2 |
| 2018 Noviembre | 3 | 0 | 3 |
| 2018 Octubre | 3 | 0 | 3 |
| 2018 Septiembre | 5 | 0 | 5 |
| 2018 Abril | 1 | 0 | 1 |
| 2018 Marzo | 3 | 1 | 4 |
| 2018 Febrero | 42 | 4 | 46 |
| 2018 Enero | 51 | 12 | 63 |
| 2017 Diciembre | 86 | 8 | 94 |
| 2017 Noviembre | 51 | 4 | 55 |
| 2017 Octubre | 50 | 4 | 54 |
| 2017 Septiembre | 78 | 4 | 82 |
| 2017 Agosto | 115 | 6 | 121 |
| 2017 Julio | 91 | 5 | 96 |
| 2017 Junio | 117 | 10 | 127 |
| 2017 Mayo | 102 | 6 | 108 |
| 2017 Abril | 104 | 8 | 112 |
| 2017 Marzo | 54 | 4 | 58 |
| 2017 Febrero | 56 | 5 | 61 |
| 2017 Enero | 58 | 4 | 62 |
| 2016 Diciembre | 68 | 10 | 78 |
| 2016 Noviembre | 74 | 10 | 84 |
| 2016 Octubre | 97 | 13 | 110 |
| 2016 Septiembre | 107 | 13 | 120 |
| 2016 Agosto | 87 | 15 | 102 |
| 2016 Julio | 68 | 4 | 72 |
| 2016 Junio | 8 | 7 | 15 |
| 2016 Mayo | 5 | 7 | 12 |
| 2016 Abril | 3 | 9 | 12 |
| 2016 Marzo | 5 | 10 | 15 |
| 2016 Febrero | 8 | 14 | 22 |
| 2016 Enero | 6 | 12 | 18 |
| 2015 Diciembre | 6 | 8 | 14 |
| 2015 Noviembre | 18 | 12 | 30 |
| 2015 Octubre | 7 | 8 | 15 |
| 2015 Septiembre | 6 | 6 | 12 |
| 2015 Agosto | 16 | 4 | 20 |
| 2015 Julio | 93 | 114 | 207 |
| 2015 Junio | 73 | 7 | 80 |
| 2015 Mayo | 88 | 18 | 106 |
| 2015 Abril | 71 | 8 | 79 |
| 2015 Marzo | 30 | 2 | 32 |
| 2015 Febrero | 26 | 8 | 34 |
| 2015 Enero | 30 | 4 | 34 |
| 2014 Diciembre | 29 | 8 | 37 |
| 2014 Noviembre | 37 | 8 | 45 |
| 2014 Octubre | 50 | 11 | 61 |
| 2014 Septiembre | 32 | 6 | 38 |
| 2014 Agosto | 33 | 4 | 37 |
| 2014 Julio | 40 | 8 | 48 |
| 2014 Junio | 47 | 9 | 56 |
| 2014 Mayo | 49 | 14 | 63 |
| 2014 Abril | 37 | 4 | 41 |
| 2014 Marzo | 38 | 8 | 46 |
| 2014 Febrero | 43 | 6 | 49 |
| 2014 Enero | 45 | 7 | 52 |
| 2013 Diciembre | 31 | 10 | 41 |
| 2013 Noviembre | 33 | 7 | 40 |
| 2013 Octubre | 23 | 1 | 24 |
| 2013 Septiembre | 12 | 3 | 15 |
| 2013 Agosto | 21 | 2 | 23 |
| 2013 Julio | 4 | 1 | 5 |
| 2013 Junio | 4 | 4 | 8 |
| 2013 Mayo | 1 | 1 | 2 |
| 2013 Abril | 2 | 4 | 6 |
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