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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Medical History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 9-year-old girl with no family history of interest was undergoing follow-up in pediatrics for functional chronic constipation since childhood&#46; She was referred to dermatology for multiple lesions on the tip of the tongue that had developed at 7 years of age&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">The initial physical examination revealed marfanoid habitus &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>A&#41;&#44; with thickening and mild eversion of the lip and the free margin of the eyelid&#46; Several firm&#44; opaque&#44; papular lesions were observed on the tip of the tongue &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46; A single skin-colored papular lesion was observed in the right nasal choana &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a><span class="elsevierStyleHsp" style=""></span>C&#41; and several others on the lips &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Additional Tests</span><p id="par0015" class="elsevierStylePara elsevierViewall">A punch biopsy of one of the lingual papules revealed well-circumscribed nodular lesions in the dermis&#44; consisting of hyperplastic nerve fibers that were positive for neurofilament and S100 staining &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Based on these histological finding magnetic resonance imaging of the adrenal glands was performed&#44; and levels of urine catecholamines and blood calcitonin were determined&#46; All test results were normal&#46; However&#44; thyroid ultrasound revealed 3 vascularized&#44; hypodense&#44; bilateral nodules&#44; strongly suggesting malignancy&#46; A genetic study revealed a mutation in the <span class="elsevierStyleItalic">RET</span> proto-oncogene &#40;p&#46;Met918Thr&#41;&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis&#63;</span></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">Mucosal neuromas in a case of multiple endocrine neoplasia&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Course</span><p id="par0035" class="elsevierStylePara elsevierViewall">Based on the histological confirmation of mucosal neuromas and the patient&#769;s clinical history of chronic constipation&#44; several additional tests were conducted to confirm the presence of multiple endocrine neoplasia &#40;MEN&#41;&#46; A thyroidectomy&#44; performed given the strong suspicion of malignant infiltration of the thyroid&#44; confirmed the presence of medullary thyroid cancer&#46; The final diagnosis was MEN type 2B with cutaneous&#44; thyroid&#44; and gastrointestinal involvement&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Comments</span><p id="par0040" class="elsevierStylePara elsevierViewall">MEN type 2B syndrome is an inherited autosomal dominant disorder caused by a mutation in the <span class="elsevierStyleItalic">RET</span> proto-oncogene&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">1</span></a> MEN type 2 is classified into 3 types&#58; 2A&#44; 2B&#44; and familial medullary thyroid cancer&#46; MEN type 2B has a low incidence &#40;1 case per 200&#160;000&#41;&#44; and represents 5&#37; of all MEN type 2 cases&#46; This disorder is characterized by endocrine neoplasias such as pheochromocytoma &#40;50&#37; of cases&#41; and medullary thyroid cancer &#40;95&#37; of cases&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> The latter is usually the first neoplasia to develop&#44; and has a poor prognosis owing to its aggressive and multicentric nature and its high rate of metastasis &#40;mainly in the lung and liver&#41;&#46; A prophylactic thyroidectomy is thus recommended in such cases&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> MEN type 2B is also characterized by intestinal ganglioneuromatosis resulting in chronic constipation&#44; and a peculiar phenotype with marfanoid habitus and thickening of the lips and eyelids&#44; as seen in our patient&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Mucosal neuromas are the guiding sign for the early diagnosis of this disease&#44; and are usually located in the midface region&#44; predominantly in the lingual and labial mucosa&#44; and less frequently in the conjunctiva and palate&#46; In severe cases&#44; mucosal neuromas may be present at birth&#59; the number and&#47;or size of these neuromas may increase over time or remain unchanged&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Mucosal neuromas&#44; given their almost pathognomonic character&#44; can thus constitute the key to early identification of MEN&#46; The dermatologist plays a crucial role in such cases&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Conflicts of Interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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Case for Diagnosis
Mucosal Papules in a 9-Year-Old Girl
Pápulas mucosas en una niña de 9 años
L. Padilla-España
Corresponding author
laupadesp@gmail.com

Corresponding author.
, J. del Boz-González, M. de Troya Martín
Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain
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          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A&#44; Hematoxylin-eosin&#44; original magnification &#215;100&#46; B&#44; Hematoxylin-eosin&#44; original magnification &#215;200&#46; C&#44; Neurofilament immunohistochemistry&#46; D&#44; S100 immunohistochemistry&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Medical History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 9-year-old girl with no family history of interest was undergoing follow-up in pediatrics for functional chronic constipation since childhood&#46; She was referred to dermatology for multiple lesions on the tip of the tongue that had developed at 7 years of age&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">The initial physical examination revealed marfanoid habitus &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>A&#41;&#44; with thickening and mild eversion of the lip and the free margin of the eyelid&#46; Several firm&#44; opaque&#44; papular lesions were observed on the tip of the tongue &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46; A single skin-colored papular lesion was observed in the right nasal choana &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a><span class="elsevierStyleHsp" style=""></span>C&#41; and several others on the lips &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Additional Tests</span><p id="par0015" class="elsevierStylePara elsevierViewall">A punch biopsy of one of the lingual papules revealed well-circumscribed nodular lesions in the dermis&#44; consisting of hyperplastic nerve fibers that were positive for neurofilament and S100 staining &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Based on these histological finding magnetic resonance imaging of the adrenal glands was performed&#44; and levels of urine catecholamines and blood calcitonin were determined&#46; All test results were normal&#46; However&#44; thyroid ultrasound revealed 3 vascularized&#44; hypodense&#44; bilateral nodules&#44; strongly suggesting malignancy&#46; A genetic study revealed a mutation in the <span class="elsevierStyleItalic">RET</span> proto-oncogene &#40;p&#46;Met918Thr&#41;&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis&#63;</span></p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">Mucosal neuromas in a case of multiple endocrine neoplasia&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Course</span><p id="par0035" class="elsevierStylePara elsevierViewall">Based on the histological confirmation of mucosal neuromas and the patient&#769;s clinical history of chronic constipation&#44; several additional tests were conducted to confirm the presence of multiple endocrine neoplasia &#40;MEN&#41;&#46; A thyroidectomy&#44; performed given the strong suspicion of malignant infiltration of the thyroid&#44; confirmed the presence of medullary thyroid cancer&#46; The final diagnosis was MEN type 2B with cutaneous&#44; thyroid&#44; and gastrointestinal involvement&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Comments</span><p id="par0040" class="elsevierStylePara elsevierViewall">MEN type 2B syndrome is an inherited autosomal dominant disorder caused by a mutation in the <span class="elsevierStyleItalic">RET</span> proto-oncogene&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">1</span></a> MEN type 2 is classified into 3 types&#58; 2A&#44; 2B&#44; and familial medullary thyroid cancer&#46; MEN type 2B has a low incidence &#40;1 case per 200&#160;000&#41;&#44; and represents 5&#37; of all MEN type 2 cases&#46; This disorder is characterized by endocrine neoplasias such as pheochromocytoma &#40;50&#37; of cases&#41; and medullary thyroid cancer &#40;95&#37; of cases&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> The latter is usually the first neoplasia to develop&#44; and has a poor prognosis owing to its aggressive and multicentric nature and its high rate of metastasis &#40;mainly in the lung and liver&#41;&#46; A prophylactic thyroidectomy is thus recommended in such cases&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> MEN type 2B is also characterized by intestinal ganglioneuromatosis resulting in chronic constipation&#44; and a peculiar phenotype with marfanoid habitus and thickening of the lips and eyelids&#44; as seen in our patient&#46;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Mucosal neuromas are the guiding sign for the early diagnosis of this disease&#44; and are usually located in the midface region&#44; predominantly in the lingual and labial mucosa&#44; and less frequently in the conjunctiva and palate&#46; In severe cases&#44; mucosal neuromas may be present at birth&#59; the number and&#47;or size of these neuromas may increase over time or remain unchanged&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Mucosal neuromas&#44; given their almost pathognomonic character&#44; can thus constitute the key to early identification of MEN&#46; The dermatologist plays a crucial role in such cases&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Conflicts of Interest</span><p id="par0055" 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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