Case for Diagnosis
Painful Skin Nodules
Nódulos cutáneos dolorosos
J.F. Millán-Cayetano
, J.M. Segura-Palacios, M. de-Troya-Martín
Corresponding author
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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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 12 | 6 | 18 |
| 2024 October | 66 | 34 | 100 |
| 2024 September | 90 | 25 | 115 |
| 2024 August | 125 | 66 | 191 |
| 2024 July | 106 | 29 | 135 |
| 2024 June | 100 | 36 | 136 |
| 2024 May | 79 | 34 | 113 |
| 2024 April | 85 | 18 | 103 |
| 2024 March | 78 | 26 | 104 |
| 2024 February | 73 | 23 | 96 |
| 2024 January | 80 | 34 | 114 |
| 2023 December | 90 | 19 | 109 |
| 2023 November | 69 | 30 | 99 |
| 2023 October | 79 | 34 | 113 |
| 2023 September | 80 | 38 | 118 |
| 2023 August | 45 | 15 | 60 |
| 2023 July | 78 | 73 | 151 |
| 2023 June | 62 | 27 | 89 |
| 2023 May | 65 | 27 | 92 |
| 2023 April | 51 | 19 | 70 |
| 2023 March | 48 | 16 | 64 |
| 2023 February | 48 | 21 | 69 |
| 2023 January | 50 | 30 | 80 |
| 2022 December | 47 | 34 | 81 |
| 2022 November | 21 | 22 | 43 |
| 2022 October | 28 | 20 | 48 |
| 2022 September | 27 | 41 | 68 |
| 2022 August | 42 | 37 | 79 |
| 2022 July | 62 | 33 | 95 |
| 2022 June | 43 | 18 | 61 |
| 2022 May | 73 | 30 | 103 |
| 2022 April | 90 | 44 | 134 |
| 2022 March | 58 | 43 | 101 |
| 2022 February | 30 | 28 | 58 |
| 2022 January | 87 | 39 | 126 |
| 2021 December | 41 | 36 | 77 |
| 2021 November | 48 | 45 | 93 |
| 2021 October | 41 | 45 | 86 |
| 2021 September | 41 | 34 | 75 |
| 2021 August | 28 | 24 | 52 |
| 2021 July | 22 | 22 | 44 |
| 2021 June | 21 | 24 | 45 |
| 2021 May | 20 | 27 | 47 |
| 2021 April | 52 | 47 | 99 |
| 2021 March | 50 | 17 | 67 |
| 2021 February | 60 | 23 | 83 |
| 2021 January | 30 | 16 | 46 |
| 2020 December | 38 | 22 | 60 |
| 2020 November | 19 | 19 | 38 |
| 2020 October | 12 | 7 | 19 |
| 2020 September | 20 | 13 | 33 |
| 2020 August | 27 | 21 | 48 |
| 2020 July | 26 | 18 | 44 |
| 2020 June | 33 | 25 | 58 |
| 2020 May | 32 | 19 | 51 |
| 2020 April | 34 | 19 | 53 |
| 2020 March | 28 | 22 | 50 |
| 2020 February | 5 | 1 | 6 |
| 2020 January | 4 | 0 | 4 |
| 2019 December | 4 | 3 | 7 |
| 2019 November | 4 | 0 | 4 |
| 2019 October | 0 | 1 | 1 |
| 2019 September | 6 | 0 | 6 |
| 2019 August | 4 | 2 | 6 |
| 2019 July | 4 | 3 | 7 |
| 2019 June | 4 | 6 | 10 |
| 2019 May | 4 | 15 | 19 |
| 2019 April | 3 | 6 | 9 |
| 2019 March | 0 | 7 | 7 |
| 2019 February | 3 | 2 | 5 |
| 2019 January | 3 | 0 | 3 |
| 2018 December | 1 | 4 | 5 |
| 2018 November | 1 | 0 | 1 |
| 2018 October | 4 | 0 | 4 |
| 2018 September | 8 | 0 | 8 |
| 2018 March | 2 | 0 | 2 |
| 2018 February | 32 | 3 | 35 |
| 2018 January | 50 | 3 | 53 |
| 2017 December | 44 | 8 | 52 |
| 2017 November | 49 | 6 | 55 |
| 2017 October | 41 | 4 | 45 |
| 2017 September | 33 | 1 | 34 |
| 2017 August | 53 | 7 | 60 |
| 2017 July | 53 | 7 | 60 |
| 2017 June | 64 | 12 | 76 |
| 2017 May | 66 | 10 | 76 |
| 2017 April | 53 | 17 | 70 |
| 2017 March | 38 | 11 | 49 |
| 2017 February | 34 | 5 | 39 |
| 2017 January | 40 | 7 | 47 |
| 2016 December | 50 | 8 | 58 |
| 2016 November | 48 | 8 | 56 |
| 2016 October | 61 | 5 | 66 |
| 2016 September | 0 | 6 | 6 |
| 2016 July | 7 | 1 | 8 |
| 2016 June | 11 | 0 | 11 |
| 2016 May | 7 | 2 | 9 |
| 2016 April | 9 | 2 | 11 |
| 2016 March | 11 | 0 | 11 |
| 2016 February | 10 | 1 | 11 |
| 2016 January | 11 | 1 | 12 |
| 2015 December | 11 | 0 | 11 |
| 2015 November | 0 | 1 | 1 |
| 2015 October | 0 | 1 | 1 |
| 2015 September | 0 | 1 | 1 |
| 2015 August | 0 | 4 | 4 |
| 2015 July | 19 | 4 | 23 |
| 2015 June | 38 | 12 | 50 |
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