Letter - Clinical
Case for diagnosis. Vascular malformations, hemihypertrophy and macrodactyly: Proteus syndrome
Bárbara Elias do Carmo Barbosa, Melissa de Almeida Corrêa Alfredo, Luciana Patrícia Fernandes Abbade, Hélio Amante Miot
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Department of Infectology, Dermatology, Diagnostic Imaging and Radiotherapy, Faculty of Medicine, Universidade Estadual Paulista, Botucatu, SP, Brazil
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Vascular malformations, hemihypertrophy and macrodactyly: Proteus syndrome" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "384" "paginaFinal" => "386" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Bárbara Elias do Carmo Barbosa, Melissa de Almeida Corrêa Alfredo, Luciana Patrícia Fernandes Abbade, Hélio Amante Miot" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Bárbara Elias do Carmo" "apellidos" => "Barbosa" ] 1 => array:2 [ "nombre" => "Melissa de Almeida Corrêa" "apellidos" => "Alfredo" ] 2 => array:2 [ "nombre" => "Luciana Patrícia Fernandes" "apellidos" => "Abbade" ] 3 => array:4 [ "nombre" => "Hélio Amante" "apellidos" => "Miot" "email" => array:1 [ 0 => "heliomiot@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Department of Infectology, Dermatology, Diagnostic Imaging and Radiotherapy, Faculty of Medicine, Universidade Estadual Paulista, Botucatu, SP, Brazil" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1091 "Ancho" => 1508 "Tamanyo" => 101849 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Details of foot deformities with asymmetric gigantism and syndactyly.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A one-year-old boy had erythematous-violaceous macules on the left lower limb and trunk since birth (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), associated with feet and chest deformities (<a class="elsevierStyleCrossRefs" href="#fig0010">Figs. 2 and 3</a>), arteriovenous fistulas, and hypospadia. His personal and family history showed normal delivery at term, with no complications and non-consanguineous parents, with no reports of similar cases in the family, or hereditary diseases.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">The investigation showed a normocephalic child, cervicothoracic scoliosis, posteriorly rotated ears, straight palpebral fissures, enlarged nasal base, retrognathia, flattened nasal philtrum, high palate, downturned oral commissures, and a palpable mass in the right epigastric region. He also had hemihypertrophy of limbs, enlarged hands and toes (symmetrically), and increased feet volume (left foot larger than the right one) with syndactyly between the second and the third and between the fourth and the fifth toes on the right. Vascular malformations were observed in the left lower limb, dorsum, thorax and genital region, besides linear epidermal nevus on the thorax. He had adequate neuropsychomotor development, without ocular alterations. The genetic analysis disclosed a male karyotype (46, XY), with no qualitative or structural alterations.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">What is your diagnosis?</span><p id="par0015" class="elsevierStylePara elsevierViewall"><ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">a</span><p id="par0020" class="elsevierStylePara elsevierViewall">Proteus syndrome</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">b</span><p id="par0025" class="elsevierStylePara elsevierViewall">Maffucci Syndrome</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">c</span><p id="par0030" class="elsevierStylePara elsevierViewall">Klippel-Trenaunay-Weber syndrome</p></li><li class="elsevierStyleListItem" id="lsti0020"><span class="elsevierStyleLabel">d</span><p id="par0035" class="elsevierStylePara elsevierViewall">Milroy Disease</p></li></ul></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">Named in 1983 by Wiedmann et al.,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Proteus syndrome is characterized by its polymorphism, variable phenotypic presentations, and mosaic distribution of lesions.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It presents immediately at birth and can affect any organ or system, commonly manifesting with skeletal malformations, overgrowth of connective and muscular tissues, nevi and vascular malformations. Neuropsychological development is usually preserved.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">The clinical manifestations are variable, with cases ranging from focal changes (isolated macrodactyly),<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> to extensive dysmorphism that undergoes changes over time, making the diagnosis and therapeutic approach difficult.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> It is considered a rare condition, with an average incidence of 1/10,000,000 births, and less than 150 cases reported worldwide.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> It results from a mosaic mutation with somatic activation of the AKT1 oncogene (14q32.3), which is involved in cell-growth signaling pathways,<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">7</span></a> in addition to being associated with a greater predisposition to neoplasms, deep vein thrombosis, and pulmonary embolism, with a risk of early death.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">The diagnosis of Proteus syndrome is based on clinical criteria, making it necessary to differentiate from other hamartoses, such as Klippel-Trenaunay-Weber and Maffucci syndromes (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>).<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0055" class="elsevierStylePara elsevierViewall">Treatment is individualized and multidisciplinary, requiring a psychological and psychomotor evaluation when orthopedic and vascular surgical approaches are indicated. Oral inhibitors of the mTOR pathway (sirolimus 0.1 mg/kg/d) have been reported to be effective in preventing the growth of connective tissue hamartomas.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> The use of sirolimus has promising results in controlling symptoms related to limb overgrowth and tumors and should be started early to prevent disease progression.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> However, the use of this medication was not available at the time the present patient was evaluated.</p><p id="par0060" class="elsevierStylePara elsevierViewall">This child was followed by the dermatology, pediatrics, psychology, vascular surgery and orthopedics teams for 12 years. At the age of ten, he experienced a worsening of the gigantism of the lower limbs, leading to difficulty in walking and weight loss. The multidisciplinary team decided for a transtibial amputation of the right lower limb and a transfemoral amputation of the left lower limb.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Financial support</span><p id="par0065" class="elsevierStylePara elsevierViewall">None declared.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Authors' contributions</span><p id="par0070" class="elsevierStylePara elsevierViewall">Bárbara Elias do Carmo Barbosa: Drafting of the manuscript; effective participation in research orientation; effective participation in propaedeutics; critical review of the literature; critical review of the manuscript; approval of the final version of the manuscript.</p><p id="par0075" class="elsevierStylePara elsevierViewall">Melissa Almeida Corrêa Alfredo: Drafting of the manuscript; effective participation in research orientation; effective participation in propaedeutics; critical review of the literature; critical review of the manuscript; approval of the final version of the manuscript.</p><p id="par0080" class="elsevierStylePara elsevierViewall">Luciana Patrícia Fernandes Abbade: Drafting of the manuscript; effective participation in research orientation; effective participation in propaedeutics; critical review of the literature; critical review of the manuscript; approval of the final version of the manuscript.</p><p id="par0085" class="elsevierStylePara elsevierViewall">Hélio Amante Miot: Drafting of the manuscript; effective participation in research orientation; effective participation in propaedeutics; critical review of the literature; critical review of the manuscript; approval of the final version of the manuscript.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conflicts of interest</span><p id="par0090" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:6 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "What is your diagnosis?" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Discussion" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Financial support" ] 3 => array:2 [ "identificador" => "sec0020" "titulo" => "Authors' contributions" ] 4 => array:2 [ "identificador" => "sec0025" "titulo" => "Conflicts of interest" ] 5 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2021-10-03" "fechaAceptado" => "2021-11-08" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "⋆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Study conducted at the Department of Infectology, Dermatology, Diagnostic Imaging and Radiotherapy, Faculty of Medicine, Universidade Estadual Paulista, Botucatu, SP, Brazil.</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" => 2266 "Ancho" => 3008 "Tamanyo" => 289686 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Vascular malformations in the left lower limb. Leg and foot deformities and abdominal tumor. (B) Extensive vascular malformations in the thorax, hip and thighs with mosaic distribution.</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" => 1091 "Ancho" => 1508 "Tamanyo" => 101849 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Details of foot deformities with asymmetric gigantism and syndactyly.</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" => 1350 "Ancho" => 1508 "Tamanyo" => 109690 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Detail of the vascular malformation in the thorax and thoracoabdominal tumor.</p>" ] ] 3 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0011" "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=""><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"><span class="elsevierStyleBold">Diagnosis</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><span class="elsevierStyleBold">Main clinical characteristics</span> \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">Proteus Syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><ul class="elsevierStyleList" id="lis0001"><li class="elsevierStyleListItem" id="lsti0001"><span class="elsevierStyleLabel">•</span><p id="par0001" class="elsevierStylePara elsevierViewall">Asymmetrical growth of one or more limbs, pigmented nevi, cerebriform connective tissue nevi, vascular malformations, subcutaneous tumors, macrocephaly and visceromegaly</p></li><li class="elsevierStyleListItem" id="lsti0002"><span class="elsevierStyleLabel">•</span><p id="par0002" class="elsevierStylePara elsevierViewall">Progressive evolution</p></li><li class="elsevierStyleListItem" id="lsti0003"><span class="elsevierStyleLabel">•</span><p id="par0003" class="elsevierStylePara elsevierViewall">Facial alterations: dolichocephaly, elongated face, oblique palpebral fissures and/or ptosis, depressed nasal bridge, narrow or wide nostrils, open mouth at rest</p></li></ul> \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">Maffucci syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><ul class="elsevierStyleList" id="lis0002"><li class="elsevierStyleListItem" id="lsti0004"><span class="elsevierStyleLabel">•</span><p id="par0004" class="elsevierStylePara elsevierViewall">Cutaneous venous malformations, dyschondroplasia, enchondromas, lymphangiomas, <span class="elsevierStyleItalic">café au lait</span> spots</p></li></ul> \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">Klippel Trenaunay -Weber Syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><ul class="elsevierStyleList" id="lis0003"><li class="elsevierStyleListItem" id="lsti0006"><span class="elsevierStyleLabel">•</span><p id="par0008" class="elsevierStylePara elsevierViewall">Port-wine stains, vascular malformations, arteriovenous fistulas, hypertrophy of the affected limb (bone and/or tissue)</p></li></ul> \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">Milroy Disease \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"><ul class="elsevierStyleList" id="lis0004"><li class="elsevierStyleListItem" id="lsti0011"><span class="elsevierStyleLabel">•</span><p id="par0011" class="elsevierStylePara elsevierViewall">Lymphedema since birth in lower limbs, varicose veins, limb hypertrophy</p></li></ul> \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab3171511.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0011" class="elsevierStyleSimplePara elsevierViewall">Main clinical characteristics of Proteus syndrome and its differential diagnoses</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The proteus syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "H.R. 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