Case for Diagnosis
Painful Skin Nodules
Nódulos cutáneos dolorosos
J.F. Millán-Cayetano
, J.M. Segura-Palacios, M. de-Troya-Martín
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Servicio de Dermatología, Hospital Costa del Sol, Marbella, Málaga, Spain
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Millán-Cayetano, J.M. Segura-Palacios, M. de-Troya-Martín" "autores" => array:3 [ 0 => array:4 [ "nombre" => "J.F." "apellidos" => "Millán-Cayetano" "email" => array:1 [ 0 => "jf.millancayetano@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "J.M." "apellidos" => "Segura-Palacios" ] 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" => "Nódulos cutáneos dolorosos" ] ] "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" => 750 "Ancho" => 1000 "Tamanyo" => 298407 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Hematoxylin-eosin, original magnification ×20.</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">The patient was 50-year-old woman with a history of hysterectomy for uterine leiomyomas (1997), collecting duct carcinoma treated by radical right nephrectomy (2005), and mucinous cystadenoma of the left ovary for which adnexectomy (2010) was performed. The most notable aspect of her family history was that her brother and sister had died of renal carcinoma.</p><p id="par0010" class="elsevierStylePara elsevierViewall">She consulted a dermatologist for multiple skin lesions on the trunk and proximal limbs, which had developed progressively after the diagnosis of renal cancer; the lesions were painful when touched or exposed to low temperatures (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0015" class="elsevierStylePara elsevierViewall">Physical examination revealed some 15 to 20 erythematous nodular lesions located primarily on the trunk and proximal limbs.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histology</span><p id="par0020" class="elsevierStylePara elsevierViewall">The results of histological examination revealed unencapsulated tumoral lesions located in the dermis and composed of interlacing bundles of smooth muscle fibers. The cells had abundant eosinophilic cytoplasm and elongated nuclei with blunt ends (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><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">Hereditary leiomyomatosis and renal cell cancer (HLRCC).</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Clinical Course</span><p id="par0035" class="elsevierStylePara elsevierViewall">After years of monitoring, the renal cancer has shown no signs of local recurrence or distant metastasis. The skin lesions have continued to grow in both number and size over the years. The patient and her family were referred for genetic testing.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Treatment</span><p id="par0040" class="elsevierStylePara elsevierViewall">The most painful skin lesions were excised surgically.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Comment</span><p id="par0045" class="elsevierStylePara elsevierViewall">HLRCC is a rare disorder characterized by the presence of cutaneous and uterine leiomyomas in association with renal cell cancer.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> The renal cancer is typically unilateral (unlike other hereditary renal cancer syndromes such as Von Hippel Lindau or Birt-Hogg-Dubé) and tends to be particularly aggressive. The histological classification is usually type 2 papillary carcinoma, although cases have been reported of collecting duct carcinomas and tumors comprising clear cells, mixed clear and papillary cells, or tubular-papillary cells. It is rare for cutaneous piloleiomyomas or uterine leiomyomas to degenerate to malignant forms, although some cases have been reported and it has been observed that malignant transformation tends to occur at younger ages.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> Moreover, an association has been described between the mutation of the gene responsible and other malignancies, including breast, prostate, and hematologic cancers.</p><p id="par0050" class="elsevierStylePara elsevierViewall">HLRCC should not be confused with Reed syndrome, a condition in which cutaneous and uterine leiomyomas are associated, but which does not involve kidney cancer.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The 1q42.3-q43 gene has been has been implicated in the etiology of HLRCC. This gene has an autosomal dominant mode of inheritance and encodes fumarate hydratase, a Krebs cycle enzyme involved in the tumor suppressor system. In HLRCC, a mutation in 1q42.3-q43 leads to an accumulation of fumarate, which inhibits the activity of the enzyme that hydrolyzes hypoxia inducible factor (HIF), thereby raising HIF levels and, consequently, the transcription of genes relevant to carcinogenesis.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3,4</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">The choice and prescription of the most appropriate treatment for cutaneous piloleiomyomas will always depend on the number, size, and location of the lesions and the symptoms reported.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> When a patient presents a large number of lesions only those producing the most discomfort should be treated and disfiguring surgical excision of large piloleiomyomas should be avoided. However, in the case of a patient with an isolated lesion or very few piloleiomyomas we would opt for surgical excision.</p><p id="par0065" class="elsevierStylePara elsevierViewall">In this case, in view of the number, size, and location of the piloleiomyomas, we decided that surgical excision was most appropriate measure.</p><p id="par0070" class="elsevierStylePara elsevierViewall">Awareness of the syndrome on the part of the dermatologist will facilitate early diagnosis, and diagnosis should be confirmed by genetic testing of both the patient and his or her family. This will also serve to reduce morbidity and mortality in affected individuals.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></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" => "Histology" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Diagnosis" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Clinical Course" ] 5 => array:2 [ "identificador" => "sec0030" "titulo" => "Treatment" ] 6 => array:2 [ "identificador" => "sec0035" "titulo" => "Comment" ] 7 => array:2 [ "identificador" => "sec0040" "titulo" => "Conflicts of Interest" ] 8 => array:1 [ "titulo" => "Bibliografía" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Millán-Cayetano JF, Segura-Palacios JM, de Troya-Martín M. Nódulos cutáneos dolorosos. Actas Dermosifiliogr. 2015;106:423–424.</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" => 750 "Ancho" => 1000 "Tamanyo" => 110598 ] ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 750 "Ancho" => 1000 "Tamanyo" => 298407 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Hematoxylin-eosin, original magnification ×20.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hereditary leiomyomatosis and renal cell cancer (LHRCC)" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 11 | 6 | 17 |
| 2024 Octubre | 66 | 34 | 100 |
| 2024 Septiembre | 90 | 25 | 115 |
| 2024 Agosto | 125 | 66 | 191 |
| 2024 Julio | 106 | 29 | 135 |
| 2024 Junio | 100 | 36 | 136 |
| 2024 Mayo | 79 | 34 | 113 |
| 2024 Abril | 85 | 18 | 103 |
| 2024 Marzo | 78 | 26 | 104 |
| 2024 Febrero | 73 | 23 | 96 |
| 2024 Enero | 80 | 34 | 114 |
| 2023 Diciembre | 90 | 19 | 109 |
| 2023 Noviembre | 69 | 30 | 99 |
| 2023 Octubre | 79 | 34 | 113 |
| 2023 Septiembre | 80 | 38 | 118 |
| 2023 Agosto | 45 | 15 | 60 |
| 2023 Julio | 78 | 73 | 151 |
| 2023 Junio | 62 | 27 | 89 |
| 2023 Mayo | 65 | 27 | 92 |
| 2023 Abril | 51 | 19 | 70 |
| 2023 Marzo | 48 | 16 | 64 |
| 2023 Febrero | 48 | 21 | 69 |
| 2023 Enero | 50 | 30 | 80 |
| 2022 Diciembre | 47 | 34 | 81 |
| 2022 Noviembre | 21 | 22 | 43 |
| 2022 Octubre | 28 | 20 | 48 |
| 2022 Septiembre | 27 | 41 | 68 |
| 2022 Agosto | 42 | 37 | 79 |
| 2022 Julio | 62 | 33 | 95 |
| 2022 Junio | 43 | 18 | 61 |
| 2022 Mayo | 73 | 30 | 103 |
| 2022 Abril | 90 | 44 | 134 |
| 2022 Marzo | 58 | 43 | 101 |
| 2022 Febrero | 30 | 28 | 58 |
| 2022 Enero | 87 | 39 | 126 |
| 2021 Diciembre | 41 | 36 | 77 |
| 2021 Noviembre | 48 | 45 | 93 |
| 2021 Octubre | 41 | 45 | 86 |
| 2021 Septiembre | 41 | 34 | 75 |
| 2021 Agosto | 28 | 24 | 52 |
| 2021 Julio | 22 | 22 | 44 |
| 2021 Junio | 21 | 24 | 45 |
| 2021 Mayo | 20 | 27 | 47 |
| 2021 Abril | 52 | 47 | 99 |
| 2021 Marzo | 50 | 17 | 67 |
| 2021 Febrero | 60 | 23 | 83 |
| 2021 Enero | 30 | 16 | 46 |
| 2020 Diciembre | 38 | 22 | 60 |
| 2020 Noviembre | 19 | 19 | 38 |
| 2020 Octubre | 12 | 7 | 19 |
| 2020 Septiembre | 20 | 13 | 33 |
| 2020 Agosto | 27 | 21 | 48 |
| 2020 Julio | 26 | 18 | 44 |
| 2020 Junio | 33 | 25 | 58 |
| 2020 Mayo | 32 | 19 | 51 |
| 2020 Abril | 34 | 19 | 53 |
| 2020 Marzo | 28 | 22 | 50 |
| 2020 Febrero | 5 | 1 | 6 |
| 2020 Enero | 4 | 0 | 4 |
| 2019 Diciembre | 4 | 3 | 7 |
| 2019 Noviembre | 4 | 0 | 4 |
| 2019 Octubre | 0 | 1 | 1 |
| 2019 Septiembre | 6 | 0 | 6 |
| 2019 Agosto | 4 | 2 | 6 |
| 2019 Julio | 4 | 3 | 7 |
| 2019 Junio | 4 | 6 | 10 |
| 2019 Mayo | 4 | 15 | 19 |
| 2019 Abril | 3 | 6 | 9 |
| 2019 Marzo | 0 | 7 | 7 |
| 2019 Febrero | 3 | 2 | 5 |
| 2019 Enero | 3 | 0 | 3 |
| 2018 Diciembre | 1 | 4 | 5 |
| 2018 Noviembre | 1 | 0 | 1 |
| 2018 Octubre | 4 | 0 | 4 |
| 2018 Septiembre | 8 | 0 | 8 |
| 2018 Marzo | 2 | 0 | 2 |
| 2018 Febrero | 32 | 3 | 35 |
| 2018 Enero | 50 | 3 | 53 |
| 2017 Diciembre | 44 | 8 | 52 |
| 2017 Noviembre | 49 | 6 | 55 |
| 2017 Octubre | 41 | 4 | 45 |
| 2017 Septiembre | 33 | 1 | 34 |
| 2017 Agosto | 53 | 7 | 60 |
| 2017 Julio | 53 | 7 | 60 |
| 2017 Junio | 64 | 12 | 76 |
| 2017 Mayo | 66 | 10 | 76 |
| 2017 Abril | 53 | 17 | 70 |
| 2017 Marzo | 38 | 11 | 49 |
| 2017 Febrero | 34 | 5 | 39 |
| 2017 Enero | 40 | 7 | 47 |
| 2016 Diciembre | 50 | 8 | 58 |
| 2016 Noviembre | 48 | 8 | 56 |
| 2016 Octubre | 61 | 5 | 66 |
| 2016 Septiembre | 0 | 6 | 6 |
| 2016 Julio | 7 | 1 | 8 |
| 2016 Junio | 11 | 0 | 11 |
| 2016 Mayo | 7 | 2 | 9 |
| 2016 Abril | 9 | 2 | 11 |
| 2016 Marzo | 11 | 0 | 11 |
| 2016 Febrero | 10 | 1 | 11 |
| 2016 Enero | 11 | 1 | 12 |
| 2015 Diciembre | 11 | 0 | 11 |
| 2015 Noviembre | 0 | 1 | 1 |
| 2015 Octubre | 0 | 1 | 1 |
| 2015 Septiembre | 0 | 1 | 1 |
| 2015 Agosto | 0 | 4 | 4 |
| 2015 Julio | 19 | 4 | 23 |
| 2015 Junio | 38 | 12 | 50 |
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