Case for Diagnosis
Mucosal Papules in a 9-Year-Old Girl
Pápulas mucosas en una niña de 9 años
L. Padilla-España
, J. del Boz-González, M. de Troya Martín
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Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain
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Padilla-España, J. del Boz-González, M. de Troya Martín" "autores" => array:3 [ 0 => array:4 [ "nombre" => "L." "apellidos" => "Padilla-España" "email" => array:1 [ 0 => "laupadesp@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "J." "apellidos" => "del Boz-González" ] 2 => array:2 [ "nombre" => "M." "apellidos" => "de Troya Martín" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Pápulas mucosas en una niña de 9 años" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1230 "Ancho" => 1651 "Tamanyo" => 646960 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A, Hematoxylin-eosin, original magnification ×100. B, Hematoxylin-eosin, original magnification ×200. C, Neurofilament immunohistochemistry. D, S100 immunohistochemistry.</p>" ] ] ] "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. She was referred to dermatology for multiple lesions on the tip of the tongue that had developed at 7 years of age.</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 (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A), with thickening and mild eversion of the lip and the free margin of the eyelid. Several firm, opaque, papular lesions were observed on the tip of the tongue (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>B). A single skin-colored papular lesion was observed in the right nasal choana (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a><span class="elsevierStyleHsp" style=""></span>C) and several others on the lips (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</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, consisting of hyperplastic nerve fibers that were positive for neurofilament and S100 staining (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</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, and levels of urine catecholamines and blood calcitonin were determined. All test results were normal. However, thyroid ultrasound revealed 3 vascularized, hypodense, bilateral nodules, strongly suggesting malignancy. A genetic study revealed a mutation in the <span class="elsevierStyleItalic">RET</span> proto-oncogene (p.Met918Thr).</p><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis?</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.</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 patient́s clinical history of chronic constipation, several additional tests were conducted to confirm the presence of multiple endocrine neoplasia (MEN). A thyroidectomy, performed given the strong suspicion of malignant infiltration of the thyroid, confirmed the presence of medullary thyroid cancer. The final diagnosis was MEN type 2B with cutaneous, thyroid, and gastrointestinal involvement.</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.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">1</span></a> MEN type 2 is classified into 3 types: 2A, 2B, and familial medullary thyroid cancer. MEN type 2B has a low incidence (1 case per 200 000), and represents 5% of all MEN type 2 cases. This disorder is characterized by endocrine neoplasias such as pheochromocytoma (50% of cases) and medullary thyroid cancer (95% of cases).<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> The latter is usually the first neoplasia to develop, and has a poor prognosis owing to its aggressive and multicentric nature and its high rate of metastasis (mainly in the lung and liver). A prophylactic thyroidectomy is thus recommended in such cases.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> MEN type 2B is also characterized by intestinal ganglioneuromatosis resulting in chronic constipation, and a peculiar phenotype with marfanoid habitus and thickening of the lips and eyelids, as seen in our patient.<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, and are usually located in the midface region, predominantly in the lingual and labial mucosa, and less frequently in the conjunctiva and palate. In severe cases, mucosal neuromas may be present at birth; the number and/or size of these neuromas may increase over time or remain unchanged.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Mucosal neuromas, given their almost pathognomonic character, can thus constitute the key to early identification of MEN. The dermatologist plays a crucial role in such cases.</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.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:8 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Medical History" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Physical Examination" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Additional Tests" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Diagnosis" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Course" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Comments" ] 6 => array:2 [ "identificador" => "sec0035" "titulo" => "Conflicts of Interest" ] 7 => 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: Padilla-España L, del Boz-González J, de Troya Martín M. Pápulas mucosas en una niña de 9 años. Actas Dermosifiliogr. 2015;106:227–228.</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" => 665 "Ancho" => 991 "Tamanyo" => 15091 ] ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1230 "Ancho" => 1651 "Tamanyo" => 646960 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">A, Hematoxylin-eosin, original magnification ×100. B, Hematoxylin-eosin, original magnification ×200. C, Neurofilament immunohistochemistry. D, S100 immunohistochemistry.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:4 [ 0 => array:3 [ "identificador" => "bib0025" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Multiple endocrine neoplasia type 2: An overview" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "J. Moline" 1 => "C. 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Frank-Raue" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s10689-010-9320-2" "Revista" => array:6 [ "tituloSerie" => "Fam Cancer" "fecha" => "2010" "volumen" => "9" "paginaInicial" => "449" "paginaFinal" => "457" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/20087666" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0040" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A family presenting with multiple endocrine neoplasia type 2<span class="elsevierStyleHsp" style=""></span>B: A case report" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "M. Majidi" 1 => "V. Haghpanah" 2 => "M. Hedayati" 3 => "P. Khashayar" 4 => "M.R. Mohajeri-Tehrani" 5 => "B. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 9 | 10 | 19 |
| 2024 Octubre | 61 | 43 | 104 |
| 2024 Septiembre | 66 | 38 | 104 |
| 2024 Agosto | 105 | 94 | 199 |
| 2024 Julio | 79 | 26 | 105 |
| 2024 Junio | 67 | 36 | 103 |
| 2024 Mayo | 57 | 24 | 81 |
| 2024 Abril | 53 | 26 | 79 |
| 2024 Marzo | 69 | 22 | 91 |
| 2024 Febrero | 46 | 31 | 77 |
| 2024 Enero | 48 | 31 | 79 |
| 2023 Diciembre | 56 | 13 | 69 |
| 2023 Noviembre | 51 | 26 | 77 |
| 2023 Octubre | 51 | 20 | 71 |
| 2023 Septiembre | 54 | 33 | 87 |
| 2023 Agosto | 34 | 20 | 54 |
| 2023 Julio | 40 | 34 | 74 |
| 2023 Junio | 47 | 24 | 71 |
| 2023 Mayo | 46 | 19 | 65 |
| 2023 Abril | 44 | 16 | 60 |
| 2023 Marzo | 38 | 26 | 64 |
| 2023 Febrero | 36 | 21 | 57 |
| 2023 Enero | 41 | 25 | 66 |
| 2022 Diciembre | 48 | 28 | 76 |
| 2022 Noviembre | 22 | 21 | 43 |
| 2022 Octubre | 25 | 20 | 45 |
| 2022 Septiembre | 30 | 41 | 71 |
| 2022 Agosto | 43 | 36 | 79 |
| 2022 Julio | 21 | 31 | 52 |
| 2022 Junio | 39 | 33 | 72 |
| 2022 Mayo | 32 | 31 | 63 |
| 2022 Abril | 44 | 31 | 75 |
| 2022 Marzo | 44 | 45 | 89 |
| 2022 Febrero | 33 | 20 | 53 |
| 2022 Enero | 38 | 39 | 77 |
| 2021 Diciembre | 27 | 34 | 61 |
| 2021 Noviembre | 40 | 34 | 74 |
| 2021 Octubre | 45 | 47 | 92 |
| 2021 Septiembre | 33 | 31 | 64 |
| 2021 Agosto | 51 | 25 | 76 |
| 2021 Julio | 39 | 21 | 60 |
| 2021 Junio | 28 | 26 | 54 |
| 2021 Mayo | 32 | 24 | 56 |
| 2021 Abril | 43 | 52 | 95 |
| 2021 Marzo | 59 | 12 | 71 |
| 2021 Febrero | 58 | 20 | 78 |
| 2021 Enero | 28 | 7 | 35 |
| 2020 Diciembre | 27 | 12 | 39 |
| 2020 Noviembre | 24 | 6 | 30 |
| 2020 Octubre | 18 | 10 | 28 |
| 2020 Septiembre | 11 | 9 | 20 |
| 2020 Agosto | 26 | 11 | 37 |
| 2020 Julio | 18 | 12 | 30 |
| 2020 Junio | 33 | 14 | 47 |
| 2020 Mayo | 25 | 16 | 41 |
| 2020 Abril | 25 | 13 | 38 |
| 2020 Marzo | 23 | 12 | 35 |
| 2020 Febrero | 2 | 0 | 2 |
| 2020 Enero | 4 | 1 | 5 |
| 2019 Diciembre | 8 | 2 | 10 |
| 2019 Noviembre | 4 | 0 | 4 |
| 2019 Octubre | 0 | 1 | 1 |
| 2019 Septiembre | 4 | 1 | 5 |
| 2019 Agosto | 4 | 0 | 4 |
| 2019 Julio | 4 | 0 | 4 |
| 2019 Junio | 5 | 1 | 6 |
| 2019 Mayo | 4 | 13 | 17 |
| 2019 Abril | 2 | 1 | 3 |
| 2019 Marzo | 4 | 5 | 9 |
| 2019 Febrero | 3 | 0 | 3 |
| 2019 Enero | 4 | 0 | 4 |
| 2018 Noviembre | 2 | 0 | 2 |
| 2018 Octubre | 6 | 0 | 6 |
| 2018 Septiembre | 1 | 0 | 1 |
| 2018 Febrero | 16 | 1 | 17 |
| 2018 Enero | 29 | 5 | 34 |
| 2017 Diciembre | 30 | 7 | 37 |
| 2017 Noviembre | 18 | 4 | 22 |
| 2017 Octubre | 25 | 2 | 27 |
| 2017 Septiembre | 19 | 3 | 22 |
| 2017 Agosto | 19 | 4 | 23 |
| 2017 Julio | 20 | 2 | 22 |
| 2017 Junio | 29 | 8 | 37 |
| 2017 Mayo | 26 | 8 | 34 |
| 2017 Abril | 25 | 13 | 38 |
| 2017 Marzo | 13 | 6 | 19 |
| 2017 Febrero | 15 | 6 | 21 |
| 2017 Enero | 15 | 5 | 20 |
| 2016 Diciembre | 29 | 11 | 40 |
| 2016 Noviembre | 48 | 10 | 58 |
| 2016 Octubre | 26 | 5 | 31 |
| 2016 Septiembre | 0 | 3 | 3 |
| 2016 Julio | 13 | 1 | 14 |
| 2016 Junio | 12 | 0 | 12 |
| 2016 Mayo | 13 | 4 | 17 |
| 2016 Abril | 7 | 1 | 8 |
| 2016 Marzo | 3 | 0 | 3 |
| 2016 Febrero | 11 | 1 | 12 |
| 2016 Enero | 12 | 1 | 13 |
| 2015 Diciembre | 15 | 0 | 15 |
| 2015 Noviembre | 6 | 0 | 6 |
| 2015 Octubre | 4 | 1 | 5 |
| 2015 Agosto | 0 | 2 | 2 |
| 2015 Julio | 7 | 4 | 11 |
| 2015 Junio | 6 | 2 | 8 |
| 2015 Mayo | 4 | 5 | 9 |
| 2015 Abril | 2 | 20 | 22 |
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