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
Corresponding author
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. B, Hematoxylin-eosin, original magnification ×40.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0040" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "T.N. Darling" 1 => "M.C. Skarulis" 2 => "S.M. Steinberg" 3 => "S.J. Marx" 4 => "A.M. Spiegel" 5 => "M. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 7 | 12 | 19 |
| 2024 October | 79 | 54 | 133 |
| 2024 September | 72 | 27 | 99 |
| 2024 August | 120 | 59 | 179 |
| 2024 July | 77 | 43 | 120 |
| 2024 June | 98 | 45 | 143 |
| 2024 May | 75 | 42 | 117 |
| 2024 April | 94 | 30 | 124 |
| 2024 March | 79 | 28 | 107 |
| 2024 February | 75 | 33 | 108 |
| 2024 January | 80 | 36 | 116 |
| 2023 December | 75 | 16 | 91 |
| 2023 November | 93 | 27 | 120 |
| 2023 October | 69 | 29 | 98 |
| 2023 September | 72 | 31 | 103 |
| 2023 August | 55 | 11 | 66 |
| 2023 July | 63 | 26 | 89 |
| 2023 June | 52 | 27 | 79 |
| 2023 May | 93 | 25 | 118 |
| 2023 April | 118 | 23 | 141 |
| 2023 March | 89 | 35 | 124 |
| 2023 February | 35 | 25 | 60 |
| 2023 January | 64 | 29 | 93 |
| 2022 December | 120 | 45 | 165 |
| 2022 November | 142 | 38 | 180 |
| 2022 October | 108 | 26 | 134 |
| 2022 September | 127 | 41 | 168 |
| 2022 August | 113 | 43 | 156 |
| 2022 July | 90 | 39 | 129 |
| 2022 June | 81 | 36 | 117 |
| 2022 May | 156 | 51 | 207 |
| 2022 April | 148 | 44 | 192 |
| 2022 March | 144 | 61 | 205 |
| 2022 February | 95 | 38 | 133 |
| 2022 January | 126 | 35 | 161 |
| 2021 December | 83 | 41 | 124 |
| 2021 November | 84 | 53 | 137 |
| 2021 October | 67 | 48 | 115 |
| 2021 September | 79 | 37 | 116 |
| 2021 August | 107 | 32 | 139 |
| 2021 July | 89 | 22 | 111 |
| 2021 June | 53 | 42 | 95 |
| 2021 May | 64 | 49 | 113 |
| 2021 April | 145 | 86 | 231 |
| 2021 March | 113 | 30 | 143 |
| 2021 February | 91 | 27 | 118 |
| 2021 January | 39 | 14 | 53 |
| 2020 December | 41 | 22 | 63 |
| 2020 November | 36 | 26 | 62 |
| 2020 October | 28 | 10 | 38 |
| 2020 September | 31 | 7 | 38 |
| 2020 August | 26 | 21 | 47 |
| 2020 July | 23 | 15 | 38 |
| 2020 June | 35 | 40 | 75 |
| 2020 May | 20 | 14 | 34 |
| 2020 April | 26 | 23 | 49 |
| 2020 March | 28 | 16 | 44 |
| 2020 February | 1 | 0 | 1 |
| 2020 January | 4 | 0 | 4 |
| 2019 December | 8 | 0 | 8 |
| 2019 November | 6 | 0 | 6 |
| 2019 September | 8 | 0 | 8 |
| 2019 August | 4 | 0 | 4 |
| 2019 July | 4 | 0 | 4 |
| 2019 June | 4 | 0 | 4 |
| 2019 May | 5 | 0 | 5 |
| 2019 April | 2 | 0 | 2 |
| 2019 March | 4 | 0 | 4 |
| 2019 February | 1 | 0 | 1 |
| 2019 January | 1 | 0 | 1 |
| 2018 December | 5 | 0 | 5 |
| 2018 November | 2 | 0 | 2 |
| 2018 October | 2 | 0 | 2 |
| 2018 September | 2 | 0 | 2 |
| 2018 April | 1 | 0 | 1 |
| 2018 February | 39 | 4 | 43 |
| 2018 January | 42 | 14 | 56 |
| 2017 December | 85 | 36 | 121 |
| 2017 November | 6 | 8 | 14 |
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