Case for Diagnosis
Erythematous Lesions on the Face and Papules on the Trunk of a Young Woman
Lesiones eritematosas en la cara y pápulas en el tronco de una mujer joven
B. González-Ponce
, E.C. López-Jiménez, L. Borrego-Hernando
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Servicio de Dermatología, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Las Palmas, Spain
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González-Ponce, E.C. López-Jiménez, L. Borrego-Hernando" "autores" => array:3 [ 0 => array:4 [ "nombre" => "B." "apellidos" => "González-Ponce" "email" => array:1 [ 0 => "borjagonzalez_6@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "E.C." "apellidos" => "López-Jiménez" ] 2 => array:2 [ "nombre" => "L." "apellidos" => "Borrego-Hernando" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Insular de Gran Canaria, Las Palmas de Gran Canaria, Las Palmas, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Lesiones eritematosas en la cara y pápulas en el tronco de una mujer joven" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 394 "Ancho" => 600 "Tamanyo" => 33212 ] ] ] ] "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 27-year-old woman with a past history of diabetes mellitus and primary hyperparathyroidism was assessed for multiple asymptomatic skin lesions on the trunk. The first lesions appeared 6 years earlier and additional lesions developed gradually.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Physical examination of the trunk revealed soft, poorly defined papules of various sizes (0.5-1.5<span class="elsevierStyleHsp" style=""></span>cm) the color of normal skin (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Multiple erythematous papules measuring only a few millimeters were also observed on the nose and cheeks (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">Biopsy specimens were taken from an abdominal lesion and a facial lesion. In the first specimen, hematoxylin-eosin staining showed preservation of the epidermis and a thickened dermis with no adnexal structures, occupied by an accumulation of dense collagenous fibers distributed in an irregular manner (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>A). In the second specimen, hematoxylin-eosin staining revealed vascular dilation with irregular and perivascular fibrosis in the dermis, as well as multinucleated giant cells with a stellate appearance (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>B).</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Additional Tests</span><p id="par0020" class="elsevierStylePara elsevierViewall">The following laboratory tests were carried out: complete blood count, routine biochemistry, parathyroid hormone (130<span class="elsevierStyleHsp" style=""></span>ng/L, elevated), calcium, vitamin D (23.1<span class="elsevierStyleHsp" style=""></span>ng/mL, high). An abdominal computed tomography scan and an octreotide scan revealed no pathological findings.</p><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis?</span></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">Collagenomas on the abdomen and facial angiofibromas in the context of multiple endocrine neoplasia type 1 (MEN1) syndrome.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical Course and Treatment</span><p id="par0035" class="elsevierStylePara elsevierViewall">A genetic study with polymerase chain reaction detected a deletion in the <span class="elsevierStyleItalic">MEN1</span> gene.</p><p id="par0040" class="elsevierStylePara elsevierViewall">In a year of follow-up, the patient has remained clinically stable without treatment.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Comment</span><p id="par0045" class="elsevierStylePara elsevierViewall">MEN1 is a neoplastic syndrome whose autosomal dominant inheritance pattern was described by Wermer in 1954. The skin manifestations are as follows: angiofibromas in 88% of cases, collagenomas in 72%, lipomas in 34%, and guttate hypomelanosis and gingival papules in 6%. Deletion of the <span class="elsevierStyleItalic">MEN1</span> gene has been detected in genetic studies of these lesions. The <span class="elsevierStyleItalic">MEN1</span> gene, located in the q13 region of chromosome 11, encodes the protein menin. This gene is probably involved in the regulation of various cellular functions such as DNA replication and repair.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Angiofibromas associated with MEN1 syndrome tend to be smaller, less numerous, located on the upper lip and vermilion border, and have a later onset than those associated with tuberous sclerosis.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Collagenomas associated with MEN1 syndrome are typically multiple and located on the trunk and the proximal part of the extremities. The differential diagnosis should include other dermatoses that cause collagenomas, such as familial cutaneous collagenoma, which presents collagenomas at birth or in the first years of life as well as visceral malformations; eruptive collagenomas, which have a sudden onset and are associated with syphilis, human immunodeficiency virus infection, and proliferative syndromes; Birt-Hogg-Dubé syndrome, which is associated with the other characteristic manifestations of MEN1 syndrome, including fibrofolliculomas and/or trichodiscomas; storiform collagenomas associated with Cowden syndrome; and cerebriform collagenomas associated with Proteus syndrome.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">The combination of more than 3 angiofibromas and any collagenomas has a sensitivity of 75% and a specificity of 95% for the diagnosis of MEN1 syndrome; these percentages are similar to those for endocrine manifestations (hyperparathyroidism and gastrinomas).<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4–6</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">In patients with cutaneous manifestations characteristic of MEN1 syndrome, some authors suggest annual monitoring of calcium, prolactin, insulin, gastrin, and glucose serum levels starting at 10 years of age in order to establish an early diagnosis, since cutaneous manifestations can appear earlier than endocrinologic manifestations.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">Our patient presented the characteristic cutaneous manifestations of MEN1: collagenomas on the trunk and facial angiofibromas. This case therefore shows that dermatologists can play an important role in the early diagnosis of this neoplastic syndrome.</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of Interest</span><p id="par0075" 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" id="npar0005">Please cite this article as: González-Ponce B, López-Jiménez EC, Borrego-Hernando L. Lesiones eritematosas en la cara y pápulas en el tronco de una mujer joven. Actas Dermosifiliogr. 2017;108:941–942.</p>" ] ] "multimedia" => array:3 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 394 "Ancho" => 600 "Tamanyo" => 33212 ] ] ] 1 => array:6 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 686 "Ancho" => 600 "Tamanyo" => 68850 ] ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 432 "Ancho" => 1000 "Tamanyo" => 185063 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A, Hematoxylin-eosin, original magnification ×10. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 8 | 12 | 20 |
| 2024 Octubre | 79 | 54 | 133 |
| 2024 Septiembre | 72 | 27 | 99 |
| 2024 Agosto | 120 | 59 | 179 |
| 2024 Julio | 77 | 43 | 120 |
| 2024 Junio | 98 | 45 | 143 |
| 2024 Mayo | 75 | 42 | 117 |
| 2024 Abril | 94 | 30 | 124 |
| 2024 Marzo | 79 | 28 | 107 |
| 2024 Febrero | 75 | 33 | 108 |
| 2024 Enero | 80 | 36 | 116 |
| 2023 Diciembre | 75 | 16 | 91 |
| 2023 Noviembre | 93 | 27 | 120 |
| 2023 Octubre | 69 | 29 | 98 |
| 2023 Septiembre | 72 | 31 | 103 |
| 2023 Agosto | 55 | 11 | 66 |
| 2023 Julio | 63 | 26 | 89 |
| 2023 Junio | 52 | 27 | 79 |
| 2023 Mayo | 93 | 25 | 118 |
| 2023 Abril | 118 | 23 | 141 |
| 2023 Marzo | 89 | 35 | 124 |
| 2023 Febrero | 35 | 25 | 60 |
| 2023 Enero | 64 | 29 | 93 |
| 2022 Diciembre | 120 | 45 | 165 |
| 2022 Noviembre | 142 | 38 | 180 |
| 2022 Octubre | 108 | 26 | 134 |
| 2022 Septiembre | 127 | 41 | 168 |
| 2022 Agosto | 113 | 43 | 156 |
| 2022 Julio | 90 | 39 | 129 |
| 2022 Junio | 81 | 36 | 117 |
| 2022 Mayo | 156 | 51 | 207 |
| 2022 Abril | 148 | 44 | 192 |
| 2022 Marzo | 144 | 61 | 205 |
| 2022 Febrero | 95 | 38 | 133 |
| 2022 Enero | 126 | 35 | 161 |
| 2021 Diciembre | 83 | 41 | 124 |
| 2021 Noviembre | 84 | 53 | 137 |
| 2021 Octubre | 67 | 48 | 115 |
| 2021 Septiembre | 79 | 37 | 116 |
| 2021 Agosto | 107 | 32 | 139 |
| 2021 Julio | 89 | 22 | 111 |
| 2021 Junio | 53 | 42 | 95 |
| 2021 Mayo | 64 | 49 | 113 |
| 2021 Abril | 145 | 86 | 231 |
| 2021 Marzo | 113 | 30 | 143 |
| 2021 Febrero | 91 | 27 | 118 |
| 2021 Enero | 39 | 14 | 53 |
| 2020 Diciembre | 41 | 22 | 63 |
| 2020 Noviembre | 36 | 26 | 62 |
| 2020 Octubre | 28 | 10 | 38 |
| 2020 Septiembre | 31 | 7 | 38 |
| 2020 Agosto | 26 | 21 | 47 |
| 2020 Julio | 23 | 15 | 38 |
| 2020 Junio | 35 | 40 | 75 |
| 2020 Mayo | 20 | 14 | 34 |
| 2020 Abril | 26 | 23 | 49 |
| 2020 Marzo | 28 | 16 | 44 |
| 2020 Febrero | 1 | 0 | 1 |
| 2020 Enero | 4 | 0 | 4 |
| 2019 Diciembre | 8 | 0 | 8 |
| 2019 Noviembre | 6 | 0 | 6 |
| 2019 Septiembre | 8 | 0 | 8 |
| 2019 Agosto | 4 | 0 | 4 |
| 2019 Julio | 4 | 0 | 4 |
| 2019 Junio | 4 | 0 | 4 |
| 2019 Mayo | 5 | 0 | 5 |
| 2019 Abril | 2 | 0 | 2 |
| 2019 Marzo | 4 | 0 | 4 |
| 2019 Febrero | 1 | 0 | 1 |
| 2019 Enero | 1 | 0 | 1 |
| 2018 Diciembre | 5 | 0 | 5 |
| 2018 Noviembre | 2 | 0 | 2 |
| 2018 Octubre | 2 | 0 | 2 |
| 2018 Septiembre | 2 | 0 | 2 |
| 2018 Abril | 1 | 0 | 1 |
| 2018 Febrero | 39 | 4 | 43 |
| 2018 Enero | 42 | 14 | 56 |
| 2017 Diciembre | 85 | 36 | 121 |
| 2017 Noviembre | 6 | 8 | 14 |
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