Case report
Sarcoidosis: An unusual presentation
Sarcoidosis: un cuadro clínico inicial poco frecuente
Pedro Madureiraa,b,
, Sofia Pimentaa,b, Hélder Cardosoc, Rui Guimarães Cunhad, Lúcia Costaa
Corresponding author
a Rheumatology Department, Centro Hospitalar de São João, Porto, Portugal
b Rheumatology Department, Faculdade de Medicina da Universidade do Porto, Porto, Portugal
c Gastrenterology Department, Centro Hospitalar de São João, Porto, Portugal
d Radiology Department, Centro Hospitalar de São João, Porto, Portugal
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"Gastrenterology Department, Centro Hospitalar de São João, Porto, Portugal" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Radiology Department, Centro Hospitalar de São João, Porto, Portugal" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Sarcoidosis: un cuadro clínico inicial poco frecuente" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1963 "Ancho" => 1737 "Tamanyo" => 386632 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Hand and feet skin lesions at presentation (A) and after 10 months of treatment (B).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Clinical observation</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 35 years-old man was sent to the rheumatology consultation with a 3-year history of arthralgia and purple coloration of the skin of the fingers of the hands and feet (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The patient complained of purple swollen of the skin with joint pain and reduced range of motion.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">The lab tests showed an increase of the liver enzymes: AST 95<span class="elsevierStyleHsp" style=""></span>U/L (10–37), ALT 130<span class="elsevierStyleHsp" style=""></span>U/L (10–37), gamma-GT 317<span class="elsevierStyleHsp" style=""></span>U/L (10–49), alkaline phosphatase 561<span class="elsevierStyleHsp" style=""></span>U/L (30–120), hypergammaglobulinemia, a low titer positive rheumatoid test and a positive anti-smooth muscle antibody. Abdominal ultrasound and a liver MRI evidenced an enlarged liver (without focal lesions) and retroperitoneal lymphadenopathy. A lymphoproliferative disease was suspected.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Liver and lymph node biopsies showed the presence of epithelioid granulomas. Infectious causes associated with granulomatous processes were excluded.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Hands and feet radiography evidenced the presence of bone cystic lesions on phalanges suggestive of sarcoidosis.</p><p id="par0025" class="elsevierStylePara elsevierViewall">We also assessed the involvement of other organs. Full body scintigraphy with gallium showed hyperfixation in several mediastinal and abdominal lymph nodes and high resolution chest-CT confirmed these findings, in a pattern suggestive of lymph node sarcoidosis. No lesions were found in the pulmonary parenchyma. Angiotensin converting enzyme (ACE) level was significantly elevated (117<span class="elsevierStyleHsp" style=""></span>U/L, range 20–70).</p><p id="par0030" class="elsevierStylePara elsevierViewall">The patient was submitted to a skin biopsy, in which were also visible epithelioid granulomas with rare giant multinucleated cells.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Confirmed the diagnosis of sarcoidosis with bone, skin, liver and lymph node involvement, the patient started prednisolone 40<span class="elsevierStyleHsp" style=""></span>mg/day, with rapid improvement of the joint pain, skin lesions (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) and analytical abnormalities.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">Sarcoidosis is a rare disease with heterogeneous presentation characterized by the formation of non-caseating granulomas.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Bone involvement is usually associated to lung, skin and lymph node involvement,<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">1,2</span></a> as in the case described. Bone lesions are asymptomatic in half of the cases, although they may present with bone or joint pain or edema. In conventional X-ray, bone lesions usually appear as cystic, lytic or permeative lesions, and are usually visible on phalanges.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">1,3</span></a> Asymptomatic patients usually do not require specific treatment.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Symptomatic patients may need treatment: NSAIDs, corticosteroids, methotrexate, hydroxychloroquine, and infliximab are described in the literature for this purpose.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Skin lesions have a predilection for black women.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a> They are divided into two large groups: those specific of sarcoidosis (with evidence of granuloma) and nonspecific (with inflammatory changes but no identifiable granulomas).<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">5,6</span></a> Erythema nodosum is the most common non-specific injury of sarcoidosis, and is a sign of the Löfgren syndrome.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> The specific cutaneous lesions of sarcoidosis usually cause no other symptoms beyond the cosmetic changes and are very heterogeneous in their appearance.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a> In this group stands out lupus pernio for being one of the few lesions with some distinctive features: violet papules and nodules that coalesce on plaques, with predilection for face, especially nose, ears and perioral region.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a> They can also appear in the fingers,<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">4,6</span></a> but the simultaneous involvement in both hands and feet never was described to the best of our knowledge, as seen in this case presented.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Most patients remain asymptomatic and have only a slight increase in liver function enzymes.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">8</span></a> Treatment with corticosteroids usually normalize liver enzymes, but is not recommended for asymptomatic patients with no involvement of other organs, since delay in treatment rarely leads to significant liver damage.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a></p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Conclusion</span><p id="par0060" class="elsevierStylePara elsevierViewall">Our clinical case emphasizes the difficulty in diagnosis with an atypical presentation. It is very important to keep a high level of awareness to the diagnosis of sarcoidosis. Joint and bone involvement is uncommon, the skin lesions will be variable and it is important to know them.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Ethical disclosures</span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Protection of human and animal subjects</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare that no experiments were performed on humans or animals for this study.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Confidentiality of data</span><p id="par0070" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Right to privacy and informed consent</span><p id="par0075" class="elsevierStylePara elsevierViewall">The authors declare that no patient data appear in this article.</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Conflicts of interest</span><p id="par0080" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:10 [ 0 => array:3 [ "identificador" => "xres859822" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec853932" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres859823" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec853931" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Clinical observation" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Discussion" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Conclusion" ] 7 => array:3 [ "identificador" => "sec0020" "titulo" => "Ethical disclosures" "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0025" "titulo" => "Protection of human and animal subjects" ] 1 => array:2 [ "identificador" => "sec0030" "titulo" => "Confidentiality of data" ] 2 => array:2 [ "identificador" => "sec0035" "titulo" => "Right to privacy and informed consent" ] ] ] 8 => array:2 [ "identificador" => "sec0040" "titulo" => "Conflicts of interest" ] 9 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2016-01-07" "fechaAceptado" => "2016-03-01" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec853932" "palabras" => array:3 [ 0 => "Sarcoidosis" 1 => "Lupus pernio" 2 => "Bone lesions" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec853931" "palabras" => array:3 [ 0 => "Sarcoidosis" 1 => "Lupus pernio" 2 => "Lesiones óseas" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A 35-year-old man presented with a 3-year history of arthralgia and purple coloration of the skin of his fingers and feet.</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Hand and foot radiography showed cystic bone lesions on phalanges suggestive of sarcoidosis. Lab tests revealed increased liver enzymes. Liver MRI evidenced an enlarged liver and retroperitoneal lymphadenopathy. Histological analysis of the finger skin, lymph nodes and liver demonstrated the presence of granulomas, confirming the diagnosis of sarcoidosis. The patient started prednisolone with rapid improvement of the symptoms.</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Skin lesions are divided into two groups: specific for sarcoidosis (with granulomas, lupus pernio-like) and nonspecific (without granulomas, erythema nodosum-like). Specific cutaneous lesions usually cause no other symptoms beyond cosmetic changes. Lupus pernio stands out for having distinctive features but, to the best of our knowledge, the simultaneous involvement of both hands and feet has never been reported.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Se presenta el caso de un hombre de 35 años con una historia de artralgia y con la piel de los dedos y los pies de color violáceo, de 3 años de duración.</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">La radiografía de pies y manos mostró lesiones quísticas óseas en las falanges, indicativas de sarcoidosis. Las pruebas de laboratorio revelaron una elevación de las enzimas hepáticas. La resonancia magnética hepática puso de manifiesto hepatomegalia y linfadenopatía retroperitoneal. El análisis histológico de la piel de los dedos, los ganglios linfáticos y el hígado mostró la existencia de granulomas, lo que confirmó el diagnóstico de sarcoidosis. El paciente comenzó el tratamiento con prednisolona con una rápida mejoría de los síntomas.</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Las lesiones de la piel se dividen en 2 grupos: específicas de la sarcoidosis (con granulomas y lupus característico del eritema pernio) e inespecíficas (sin granulomas y de tipo eritema nudoso). Las lesiones cutáneas específicas generalmente no causan más síntomas que los cambios estéticos. El lupus pernio destaca por presentar características distintivas, pero no nos consta que se haya descrito nunca la afectación simultánea de ambas manos y pies.</p></span>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1963 "Ancho" => 1737 "Tamanyo" => 386632 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Hand and feet skin lesions at presentation (A) and after 10 months of treatment (B).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Osseous sarcoidosis: clinical characteristics, treatment, and outcomes – experience from a large, academic hospital" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J.A. 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| Year/Month | Html | Total | |
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| 2024 November | 7 | 13 | 20 |
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| 2023 November | 46 | 17 | 63 |
| 2023 October | 39 | 20 | 59 |
| 2023 September | 72 | 30 | 102 |
| 2023 August | 40 | 15 | 55 |
| 2023 July | 51 | 18 | 69 |
| 2023 June | 51 | 21 | 72 |
| 2023 May | 51 | 20 | 71 |
| 2023 April | 58 | 8 | 66 |
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| 2022 May | 57 | 33 | 90 |
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| 2020 December | 20 | 17 | 37 |
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| 2020 September | 24 | 22 | 46 |
| 2020 August | 26 | 18 | 44 |
| 2020 July | 12 | 21 | 33 |
| 2020 June | 22 | 18 | 40 |
| 2020 May | 14 | 10 | 24 |
| 2020 April | 47 | 13 | 60 |
| 2020 March | 15 | 0 | 15 |
| 2020 February | 1 | 0 | 1 |
| 2018 December | 2 | 0 | 2 |
| 2018 May | 5 | 2 | 7 |
| 2018 April | 31 | 8 | 39 |
| 2018 March | 47 | 8 | 55 |
| 2018 February | 33 | 5 | 38 |
| 2018 January | 19 | 6 | 25 |
| 2017 December | 19 | 17 | 36 |
| 2017 November | 26 | 13 | 39 |
| 2017 October | 25 | 19 | 44 |
| 2017 September | 20 | 16 | 36 |
| 2017 August | 40 | 22 | 62 |
| 2017 July | 36 | 28 | 64 |
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