Letter - Clinical
Dermatologists might be the first to suspect hereditary leiomyomatosis and renal cell carcinoma syndrome
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Clinical</span>" "titulo" => "Dermatologists might be the first to suspect hereditary leiomyomatosis and renal cell carcinoma syndrome" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "696" "paginaFinal" => "698" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Elena González-Guerra, Alberto Conde Taboada, José Antonio Cortés Toro, Eduardo López Bran, Pedro Pérez Segura" "autores" => array:5 [ 0 => array:4 [ "nombre" => "Elena" "apellidos" => "González-Guerra" "email" => array:1 [ 0 => "elenagonzalezguerra@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Alberto" "apellidos" => "Conde Taboada" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "José Antonio" "apellidos" => "Cortés Toro" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Eduardo" "apellidos" => "López Bran" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "Pedro" "apellidos" => "Pérez Segura" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Department of Dermatology, Hospital Clinico Universitario San Carlos, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Department of Pathological Anatomy, Hospital Clinico Universitario San Carlos, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Department of Genetics, Hospital Clinico Universitario San Carlos, Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1119 "Ancho" => 1675 "Tamanyo" => 275065 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Small and elastic nodules/papules with poorly defined borders, covered by normal skin located on the shoulder</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Multiple cutaneous and uterine leiomyomatosis (OMIM 150800) is a rare, dominant autosomal hereditary disease in which patients develop multiple cutaneous and uterine leiomyomas. Around 14%‒30% of patients also develop unilateral, solitary, and aggressive renal cell carcinomas (usually type-2 papillary). Consequently, some authors refer to this disease as Hereditary Leiomyomatosis and Renal Cell Carcinoma syndrome (HLRCC).<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It is caused by a germline heterozygous mutation of the gene coding for fumarase (1q42-q44), also known as Fumarate Hydratase (FH).<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Patients commonly die within 5 years of diagnosis,<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> so early detection is vital. Since cutaneous leiomyomas are one of the most constant manifestations of this disease, dermatologists might be the first to suspect it; when they do, they should facilitate genetic analysis.</p><p id="par0010" class="elsevierStylePara elsevierViewall">The authors recently examined a 35-year-old woman (with a history of eating disorder (anorexia nervosa) since she was 13, suicide attempts, convulsive crises, irritable bowel syndrome, pollen allergy, and bronchial asthma) who presented with over 20 subcutaneous nodules around her body, some of which were painful, which she had had from adolescence with gradual onset.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Exploration revealed the presence of small, elastic nodules and papules with poorly defined borders, covered by slightly hyperpigmented skin and fibroelastic in consistency (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Some were painful when palpated. Ultrasound examination of the nodules in her left arm and thigh revealed highly vascularised hypoechoic lesions (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Excisional biopsy revealed lesions with a poorly defined border, composed of fascicles of entwined fusiform cells irregularly distributed within the dermis, sparing the superficial dermis (<a class="elsevierStyleCrossRef" href="#fig0015">Fig. 3</a>). HLRCC was suspected, and genetic analysis confirmed the patient to carry a p.Arg233Cys mutation in the FH gene.</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The patient was referred for gynecological examination, and multiple uterine leiomyomas were detected. A hysterectomy was performed (despite the patient's age and her having no children), and she was referred for nephrological monitoring, which she continues with no important findings.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Examination of her family members revealed her mother and maternal uncle both have multiple cutaneous leiomyomas as well. Her mother had undergone a hysterectomy for bleeding leiomyomas as a young adult after having two children. Genetic analysis of these relatives revealed the same genetic mutation as the patient; to date neither has developed renal cancer.</p><p id="par0035" class="elsevierStylePara elsevierViewall">HLRCC is characterized by the development of up to three types of tumors: cutaneous piloleiomyomas, which are seen in nearly all patients by the age of 40 years; uterine leiomyomas, which are seen in 70%‒98% of female patients<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> and usually before the fourth decade of life (mean age at appearance 30 years, range 18‒52 years), and type 2 renal cell papillary carcinoma, which occurs in around 20% of patients (mean age of appearance 46 years, range 17‒75 years).<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Cutaneous piloleiomyomas are usually multiple, and appear in both sexes and in more than one area of the body, although more localized distributions have been described in some patients.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Painful piloleiomyomas have been recorded in 90% of patients. This pain could be due to ischemia produced by the contraction of smooth muscle as a reaction to cold, pressure, stress, or an increase in the number of nerve fibers within the lesion.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3,5,6</span></a> Possible transformation to malignant leiomyosarcoma has been described,<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> although this is controversial.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> Diagnosis is confirmed histopathologically via non-encapsulated, poorly defined axes of intertwined fusiform cells seen throughout the thickness of the dermis but leaving a superficial band of the dermis clear. Immunohistochemical staining shows markers of smooth muscle, including actin and desmin.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Llamas et al.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> reported that piloleiomyomas associated with HLRCC commonly immunostain weakly or not at all for anti-FH, but strongly for anti-2SC.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Uterine leiomyomas affect 76%‒100% of women with a mutated gene for FH.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Bleeding may require a hysterectomy at an early age.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Their transformation into very aggressive leiomyosarcomas has been described.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Around 20% of patients with HLRCC may also develop type 2 papillary renal cell carcinoma<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> (the most common renal carcinoma in such patients). Its appearance is generally unilateral (unlike that seen in other hereditary renal cancer syndromes such as Von Hippel Lindau or Birt-Hogg-Dubé syndrome) and tends to be aggressive.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> No efficient therapy exists;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> patients should undergo yearly check-ups and small renal tumors should be surgically removed.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,10</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">The FH enzyme takes part in the Krebs cycle, promoting the transformation of fumarate into L-malate. It has been proposed that the inactivation of FH causes the accumulation of fumarate in cells to about 200 times its normal concentration.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> This leads to modifications in the levels of functional Vascular Endothelial Growth Factor (VEGF), erythropoietin, and glucose transporter 1, which together promote the growth of microvessels and the transcription of genes involved in cell survival and proliferation.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> The p.Arg233Cys mutation of the FH gene is described in the LOVD database (<a href="https://databases.lovd.nl/shared/genes/FH">https://databases.lovd.nl/shared/genes/FH</a>) and has been associated with a 47% loss in FH enzyme activity. Not all patients show the same phenotype, however, which suggests the involvement of additional genetic modifiers or environmental factors in the development of HLRCC.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> Germline mutations of the FH gene have also been associated with Leydig cell tumors, mucinous cystadenoma of the ovary, cerebral cavernoma,<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> a number of suprarenal manifestations,<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> type 1 endocrine neoplasia syndrome, rheumatoid arthritis, breast, prostate and bladder cancer, and renal and ovarian cysts. <a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Given the range of conditions associated with HLRCC, a set of diagnostic criteria has been established (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>),<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> with the presence of multiple cutaneous leiomyomas deemed to be sufficient cause to request genetic analysis. Patients may first seek medical consultation because of these skin lesions, leaving the dermatologist well-positioned to detect this hereditary disease.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0060" class="elsevierStylePara elsevierViewall">None declared.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors’ contributions</span><p id="par0065" class="elsevierStylePara elsevierViewall">Elena González-Guerra: Approval of the final version of the manuscript; critical literature review; data collection, analysis and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic; management of studied cases; manuscript critical review; preparation and writing of the manuscript; statistical analysis; study conception and planning.</p><p id="par0070" class="elsevierStylePara elsevierViewall">Alberto Conde-Taboada: Approval of the final version of the manuscript; critical literature review; data collection, analysis and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic; management of studied cases; manuscript critical review; preparation and writing of the manuscript; statistical analysis; study conception and planning.</p><p id="par0075" class="elsevierStylePara elsevierViewall">José Antonio Cortés Toro: Approval of the final version of the manuscript; critical literature review; data collection, analysis and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic; management of studied cases; manuscript critical review; preparation and writing of the manuscript; statistical analysis; study conception and planning.</p><p id="par0080" class="elsevierStylePara elsevierViewall">Eduardo López-Bran: Approval of the final version of the manuscript; critical literature review; data collection, analysis and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic; management of studied cases; manuscript critical review; preparation and writing of the manuscript; statistical analysis; study conception and planning.</p><p id="par0085" class="elsevierStylePara elsevierViewall">Pedro Pérez-Segura: Approval of the final version of the manuscript; critical literature review; data collection, analysis, and interpretation; effective participation in research orientation; intellectual participation in propaedeutic and/or therapeutic; management of studied cases; manuscript critical review; preparation and writing of the manuscript; statistical analysis; study conception and planning.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Financial support" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Authors’ contributions" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflicts of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2021-09-03" "fechaAceptado" => "2021-09-30" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "⋆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Study conducted at the Hospital Clinico Universitario San Carlos, Madrid, Spain.</p>" ] ] "multimedia" => array:4 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1119 "Ancho" => 1675 "Tamanyo" => 275065 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Small and elastic nodules/papules with poorly defined borders, covered by normal skin located on the shoulder</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 933 "Ancho" => 1675 "Tamanyo" => 98718 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Ultrasonography shows a hypoechoic lesion located in deep dermis (arrow)</p>" ] ] 2 => array:8 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1263 "Ancho" => 1675 "Tamanyo" => 630384 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Light microscopy shows a mesenchymal spindle-cell neoplasm located in the dermis, composed of elongated cells of eosinophilic cytoplasm irregularly distributed (arrows). The neoplasm is adjacent to hair follicle (Hematoxylin & eosin, ×40)</p>" ] ] 3 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0020" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Diagnostic criteria for HLRCC syndrome \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Major criterion \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Multiple cutaneous piloleiomyomas confirmed by biopsy \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Minor criteria \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Surgical treatment for symptomatic leiomyomas before reaching 40 years of age. While uterine leiomyomas are quite common in the general population, patients with HLRCC may require surgery before reaching 30 years of age. \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Type-2 renal cell carcinoma before reaching 40 years of age. \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Having a first-degree family member with one of the above criteria. \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab3232832.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Diagnostic criteria for HLRCC.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> To confirm a diagnosis, the major criterion or two or more minor criteria must be met</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:11 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M.H. 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