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    "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&#46; The father had not attended subsequent follow-ups but was recently referred to our clinic by the hematology department&#44; where he was being followed for neutropenia and thrombopenia&#46; His son had died of severe aplastic anemia&#46;</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&#44; he developed reticulate hyperpigmentation of the neck and upper trunk&#44; with palmoplantar hyperkeratosis and hyperhidrosis and nail dystrophy &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; His son &#40;aged 8 years at the time&#41; also began to experience similar pigmentary changes and nail dystrophy&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">At the time of the current referral &#40;the patient is now 47 years old&#41;&#44; the reticulate pigmentation had spread&#44; numerous teeth had been lost&#44; and a small patch of leukoplakia had appeared on the buccal mucosa &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</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&#46;</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&#46; A bone-marrow biopsy revealed grade 2 aplastic anemia with loss of the megakaryocytic series and a reduction in the number of granulocytes&#46; A peripheral blood karyotype was normal and mitomycin C did not induce chromosome breakage&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis&#63;</span></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Diagnosis</span><p id="par0035" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita&#46;</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&#46; The hematology department closely monitored the patient&#39;s hematologic disorders and introduced treatment with thrombopoiesis-stimulating factors&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Comment</span><p id="par0045" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita&#44; also known as Zinsser-Engman-Cole syndrome&#44; is a genodermatosis with severe multisystem complications characterized by reticulate skin pigmentation&#44; nail dystrophy&#44; and leukoplakia&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Telomere maintenance molecule defects are present&#46; The underlying genetic abnormality is heterogeneous&#44; and several mutations of the telomerase complex have been described&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> X-linked recessive&#44; autosomal dominant&#44; and autosomal recessive inheritance patterns have been observed&#59; the first of the three is the most common&#46; In the case we describe&#44; the information available &#40;male patient whose son had the syndrome even though he was not the offspring of a consanguineous relationship&#41; suggest autosomal dominant transmission&#46; This inheritance pattern has been linked to anticipation&#44; whereby symptoms appear earlier and are more severe in successive generations&#44; in relation to progressive telomere shortening&#46;<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&#46; Bone marrow failure &#40;which occurs in up to 50&#37; of cases&#41; and a predisposition to malignant neoplasms &#40;especially epidermoid carcinomas in areas of leukoplakia&#41; are the main causes of early death in these patients&#46;<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&#44; hyperhidrosis&#44; premature graying of hair&#44; epiphora&#44; caries and tooth loss&#44; mental retardation&#44; short stature&#44; lung involvement&#44; and liver fibrosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;5</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Fanconi anemia&#44; Naegeli-Franceschetti-Jadassohn syndrome&#44; and dermatopathia pigmentosa reticularis must be considered in the differential diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Fanconi anemia also manifests with pancytopenia&#44; pigmentary disorders&#44; and predisposition to malignancies&#46; It is&#44; however&#44; a more diffuse hypermelanosis associated with bone abnormalities and chromosome breakage induced by mitomycin C&#46; Naegeli-Franceschetti-Jadassohn syndrome has no leukoplakia or bone marrow involvement and reticulate hyperpigmentation disappears in adolescence&#46; Although dermatopathia pigmentosa reticularis also involves hyperpigmentation and onychodystrophy&#44; it is characterized by the presence of nonscarring alopecia and absence of bone-marrow involvement&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">An interdisciplinary approach is recommended to treat the complications these patients may develop&#46; Close follow-up by a dermatologist is required for early detection of epidermoid carcinomas in areas of leukoplakia&#46;<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&#46;</p></span></span>"
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Case for Diagnosis
Reticulate Hyperpigmentation and Medullary Aplasia
Hiperpigmentación reticulada y aplasia medular
M. Armengot-Carbó
Corresponding author
miquelarmengot@gmail.com

Corresponding author.
, B. Rodrigo-Nicolás, E. Gimeno-Carpio
Servicio de Dermatología, Hospital Arnau de Vilanova, Valencia, Spain
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    "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&#46; The father had not attended subsequent follow-ups but was recently referred to our clinic by the hematology department&#44; where he was being followed for neutropenia and thrombopenia&#46; His son had died of severe aplastic anemia&#46;</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&#44; he developed reticulate hyperpigmentation of the neck and upper trunk&#44; with palmoplantar hyperkeratosis and hyperhidrosis and nail dystrophy &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; His son &#40;aged 8 years at the time&#41; also began to experience similar pigmentary changes and nail dystrophy&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">At the time of the current referral &#40;the patient is now 47 years old&#41;&#44; the reticulate pigmentation had spread&#44; numerous teeth had been lost&#44; and a small patch of leukoplakia had appeared on the buccal mucosa &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</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&#46;</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&#46; A bone-marrow biopsy revealed grade 2 aplastic anemia with loss of the megakaryocytic series and a reduction in the number of granulocytes&#46; A peripheral blood karyotype was normal and mitomycin C did not induce chromosome breakage&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis&#63;</span></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Diagnosis</span><p id="par0035" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita&#46;</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&#46; The hematology department closely monitored the patient&#39;s hematologic disorders and introduced treatment with thrombopoiesis-stimulating factors&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle">Comment</span><p id="par0045" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita&#44; also known as Zinsser-Engman-Cole syndrome&#44; is a genodermatosis with severe multisystem complications characterized by reticulate skin pigmentation&#44; nail dystrophy&#44; and leukoplakia&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Telomere maintenance molecule defects are present&#46; The underlying genetic abnormality is heterogeneous&#44; and several mutations of the telomerase complex have been described&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;3</span></a> X-linked recessive&#44; autosomal dominant&#44; and autosomal recessive inheritance patterns have been observed&#59; the first of the three is the most common&#46; In the case we describe&#44; the information available &#40;male patient whose son had the syndrome even though he was not the offspring of a consanguineous relationship&#41; suggest autosomal dominant transmission&#46; This inheritance pattern has been linked to anticipation&#44; whereby symptoms appear earlier and are more severe in successive generations&#44; in relation to progressive telomere shortening&#46;<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&#46; Bone marrow failure &#40;which occurs in up to 50&#37; of cases&#41; and a predisposition to malignant neoplasms &#40;especially epidermoid carcinomas in areas of leukoplakia&#41; are the main causes of early death in these patients&#46;<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&#44; hyperhidrosis&#44; premature graying of hair&#44; epiphora&#44; caries and tooth loss&#44; mental retardation&#44; short stature&#44; lung involvement&#44; and liver fibrosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2&#44;5</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Fanconi anemia&#44; Naegeli-Franceschetti-Jadassohn syndrome&#44; and dermatopathia pigmentosa reticularis must be considered in the differential diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Fanconi anemia also manifests with pancytopenia&#44; pigmentary disorders&#44; and predisposition to malignancies&#46; It is&#44; however&#44; a more diffuse hypermelanosis associated with bone abnormalities and chromosome breakage induced by mitomycin C&#46; Naegeli-Franceschetti-Jadassohn syndrome has no leukoplakia or bone marrow involvement and reticulate hyperpigmentation disappears in adolescence&#46; Although dermatopathia pigmentosa reticularis also involves hyperpigmentation and onychodystrophy&#44; it is characterized by the presence of nonscarring alopecia and absence of bone-marrow involvement&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">An interdisciplinary approach is recommended to treat the complications these patients may develop&#46; Close follow-up by a dermatologist is required for early detection of epidermoid carcinomas in areas of leukoplakia&#46;<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&#46;</p></span></span>"
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ISSN: 15782190
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