Case and Research Letter
Schnitzler Syndrome, and the MEFV Gene Variant
Síndrome de Schnitzler y variante en el gen MEFV
F.J. Nicolás-Sánchez
, J.I. Aróstegui-Gorospe, J. Tarragona-Foradada, A. González-Barranquero
Corresponding author
Servicio de Dermatología, Hospital Universitario Santa María, Lérida, Spain
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Se comprueba que el infiltrado está compuesto por neutrófilos y ocasionales eosinófilos. No se observan necrosis ni hemorragia o leucocitoclastia. El patrón morfológico es compatible con urticaria.</p> <p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">B: el cromatograma Sanger del paciente índice (cuadro superior) y de un sujeto sano (cuadro inferior). Las flechas indican la posición del nucleótido donde se encuentra la variante de <span class="elsevierStyleItalic">MEFV</span>. La <span class="elsevierStyleItalic">Reference Sequence</span> (RefSeq, <span class="elsevierStyleInterRef" id="intr0005" href="https://www.ensembl.org/index.html">https://www.ensembl.org/index.html</span>) para el gen <span class="elsevierStyleItalic">MEFV</span> es NM_000243.2.</p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Ala: alanina; Gln: glutamina; Glu: ácido glutámico; Gly: glicina; Pro: prolina.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "F.J. Nicolás-Sánchez, J.I. Aróstegui-Gorospe, J. Tarragona-Foradada, A. González-Barranquero" "autores" => array:4 [ 0 => array:2 [ "nombre" => "F.J." "apellidos" => "Nicolás-Sánchez" ] 1 => array:2 [ "nombre" => "J.I." "apellidos" => "Aróstegui-Gorospe" ] 2 => array:2 [ "nombre" => "J." "apellidos" => "Tarragona-Foradada" ] 3 => array:2 [ "nombre" => "A." 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Se comprueba que el infiltrado está compuesto por neutrófilos y ocasionales eosinófilos. No se observan necrosis ni hemorragia o leucocitoclastia. El patrón morfológico es compatible con urticaria.</p> <p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">B: el cromatograma Sanger del paciente índice (cuadro superior) y de un sujeto sano (cuadro inferior). Las flechas indican la posición del nucleótido donde se encuentra la variante de <span class="elsevierStyleItalic">MEFV</span>. La <span class="elsevierStyleItalic">Reference Sequence</span> (RefSeq, <span class="elsevierStyleInterRef" id="intr0005" href="https://www.ensembl.org/index.html">https://www.ensembl.org/index.html</span>) para el gen <span class="elsevierStyleItalic">MEFV</span> es NM_000243.2.</p> <p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Ala: alanina; Gln: glutamina; Glu: ácido glutámico; Gly: glicina; Pro: prolina.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "F.J. Nicolás-Sánchez, J.I. Aróstegui-Gorospe, J. Tarragona-Foradada, A. González-Barranquero" "autores" => array:4 [ 0 => array:2 [ "nombre" => "F.J." "apellidos" => "Nicolás-Sánchez" ] 1 => array:2 [ "nombre" => "J.I." "apellidos" => "Aróstegui-Gorospe" ] 2 => array:2 [ "nombre" => "J." "apellidos" => "Tarragona-Foradada" ] 3 => array:2 [ "nombre" => "A." "apellidos" => "González-Barranquero" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001731024000401?idApp=UINPBA000044" "url" => "/00017310/0000011500000007/v1_202407021756/S0001731024000401/v1_202407021756/es/main.assets" ] ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case and Research Letter</span>" "titulo" => " Schnitzler Syndrome, and the <span class="elsevierStyleItalic">MEFV</span> Gene Variant" "tieneTextoCompleto" => true "saludo" => "To the Editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "T744" "paginaFinal" => "T745" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "F.J. Nicolás-Sánchez, J.I. Aróstegui-Gorospe, J. Tarragona-Foradada, A. González-Barranquero" "autores" => array:4 [ 0 => array:4 [ "nombre" => "F.J." "apellidos" => "Nicolás-Sánchez" "email" => array:1 [ 0 => "fnicolas@comll.cat" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "J.I." "apellidos" => "Aróstegui-Gorospe" ] 2 => array:2 [ "nombre" => "J." "apellidos" => "Tarragona-Foradada" ] 3 => array:2 [ "nombre" => "A." "apellidos" => "González-Barranquero" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Servicio de Dermatología, Hospital Universitario Santa María, Lérida, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Síndrome de Schnitzler y variante en el gen <span class="elsevierStyleItalic">MEFV</span>" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 572 "Ancho" => 905 "Tamanyo" => 68304 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Lip swelling and urticaria on the patient's forehead and trunk.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A 49-year-old male, with nasal polyps since youth, experienced a 15-month outbreak of urticaria at the age of 40, characterized by multiple pruritic wheals scattered over the trunk, which lasted <24<span class="elsevierStyleHsp" style=""></span>h, accompanied by lip and eyelid swelling, and dysphonia. No fever or arthralgias were described by the patient who received 10<span class="elsevierStyleHsp" style=""></span>mg/8<span class="elsevierStyleHsp" style=""></span>h rupatadine, replaced by 20<span class="elsevierStyleHsp" style=""></span>mg/8<span class="elsevierStyleHsp" style=""></span>h ebastine, and then by 20<span class="elsevierStyleHsp" style=""></span>mg/6<span class="elsevierStyleHsp" style=""></span>h bilastine until the wheals disappeared.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Currently, the patient presents to the clinic with a 5-month history of generalized pruritic wheals (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) of similar characteristics treated with 10<span class="elsevierStyleHsp" style=""></span>mg/6<span class="elsevierStyleHsp" style=""></span>h cetirizine. However, unsatisfactory control of the condition has been observed, which has persisted for up to 6 months. The patient reported episodes of pain in the upper third of his right arm. The biopsy of a wheal (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>A) revealed the presence of a slight edema with dilated small vessels in the upper dermis, perivascular inflammatory infiltrate composed of neutrophils and occasional eosinophils, without fibrinoid necrosis in vessels, hemorrhage, or leukocytoclasia, compatible with urticaria.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Lab test results revealed leukocytosis of 17.12<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>10<span class="elsevierStyleHsp" style=""></span>×<span class="elsevierStyleHsp" style=""></span>9/L (normal: 4800–10<span class="elsevierStyleHsp" style=""></span>800), neutrophilia of 10<span class="elsevierStyleHsp" style=""></span>750 (normal: 1400–6500), C-reactive protein of 11.9<span class="elsevierStyleHsp" style=""></span>mg/L (normal: 0.2–5.0), and interleukin 6 (IL-6) of 16.9<span class="elsevierStyleHsp" style=""></span>pg/mL (normal: 5.3–7.5). Immunoglobulin E (IgE) was 106<span class="elsevierStyleHsp" style=""></span>IU/mL (normal: 0–150). Serum immunofixation showed a monoclonal component of immunoglobulin G (IgG)-kappa type, without monoclonal component in urine. Alpha-1-antitrypsin, ceruloplasmin, antinuclear antibodies, rheumatoid factor, liver and kidney microsomal antibodies (LKM), antimitochondrial antibodies, anti-smooth muscle antibodies, anticardiolipin antibodies, and antineutrophil cytoplasmic antibodies were within normal parameters. A thoracoabdominal CT scan revealed the presence an osteolytic lesion in the diaphysis of the right humerus, suggestive of enchondroma. No lymphadenopathy was observed.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Genetic screening for autoinflammatory diseases was performed using a Next-Generation Sequencing panel with coverage<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>10×. No germline or somatic variants were detected in the studied genes classifiable as pathogenic or likely pathogenic based on the criteria of the American College of Clinical Genetics and Genomics. A heterozygous variant p.(Glu148Gln) was identified in exon 2 of the MEFV gene, which was classified as a variant of uncertain significance (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>B). Anakinra was not administered due to resolution of the wheals.</p><p id="par0025" class="elsevierStylePara elsevierViewall">A diagnosis of Schnitzler syndrome (SS) was achieved based on the Strasbourg criteria,<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> showing chronic urticaria and monoclonal gammopathy of IgG-kappa type as major criteria, and osteolytic lesion in the right humerus, neutrophilic infiltrate in skin biopsy, and neutrophilia as minor criteria. SS<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2,3</span></a> presents with self-limiting, long-lasting urticaria flares, poorly controlled with antihistamines. Years can pass between flares. Skin biopsy in SS shows vasculitis, neutrophil infiltration, edema, and leukocytoclasia. In this case, the biopsy showed a perivascular inflammatory infiltrate composed of neutrophils, without vasculitis. In the review by Koning et al.,<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> only 20% of patients showed vasculitis on the biopsy.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Urticaria can be associated with IL-6, as it can activate and degranulate mast cells, which in turn release IL-6 and other inflammatory mediators, including histamine, leukotrienes, and prostaglandins, causing vasodilation and extravasation of cutaneous and subcutaneous plasma. This patient had elevated IL-6. Osteomuscular pain is a common finding in patients with SS. Radiologically, increased bone density, lytic bone lesions,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> and periosteal thickening may appear. Pain in the upper third of the right arm was attributed to the osteolytic lesion of the humeral diaphysis.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The test confirmed the monoclonal component of IgG-kappa type. Although the classic form of the monoclonal component is immunoglobulin M (IgM), there is another less frequent variant form of SS, in which the monoclonal component is IgG type, as in this case. Life is not shortened in SS individuals, but 12% of patients may progress into lymphoproliferative processes, with the most frequent being Waldenström's macroglobulinemia.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Postzygotic mutations of the NLRP3 gene have been reported in patients diagnosed with the SS-variant.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> The genetic test performed did not demonstrate either germline or postzygotic mutations in this gene, or in any other, except in MEFV. In this gene, the heterozygous variant p.(Glu148Gln) was identified, which was associated with familial Mediterranean fever<a class="elsevierStyleCrossRefs" href="#bib0080"><span class="elsevierStyleSup">6,7</span></a> (FMF) in patients with fever, arthritis, abdominal pain, and urticaria. The MEFV gene encodes pyrin, a protein that inhibits the inflammasome. A few cases have been published on the presence of chronic urticaria associated with mutations in MEFV.<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">8–10</span></a> In FMF, elevated IL-6 is observed attributed to inflammasome hyperactivity, due to changes to the pyrin function, normalizing in intercrisis periods, which may be related to urticaria.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Nasal polyposis has been associated with autoinflammatory disease. In this case, it is difficult to attribute a causal relationship between the heterozygous variant p.(Glu148Gln) in the MEFV gene and SS.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0050" class="elsevierStylePara elsevierViewall">None declared.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflicts of interest</span><p id="par0055" class="elsevierStylePara elsevierViewall">None declared.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflicts of interest" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 572 "Ancho" => 905 "Tamanyo" => 68304 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Lip swelling and urticaria on the patient's forehead and trunk.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 632 "Ancho" => 1550 "Tamanyo" => 245372 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">(A) Hematoxylin–eosin ×200. It is confirmed that the infiltrate is composed of neutrophils and occasional eosinophils. No necrosis, or hemorrhage, or leukocytoclasia are observed. Morphological pattern is consistent with urticaria. (B) Sanger chromatogram of the index patient (top panel) and a healthy subject (bottom panel). The arrows indicate the position of the nucleotide where the MEFV variant is located. The Reference Sequence (RefSeq, <span class="elsevierStyleInterRef" id="intr0005" href="https://www.ensembl.org/index.html">https://www.ensembl.org/index.html</span>) for the MEFV gene is NM_000243.2. Ala, alanine; Gln, glutamine; Glu, glutamic acid; Gly, glycine; Pro, proline.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Schnitzler's syndrome: diagnosis, treatment, and follow-up" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. Simon" 1 => "B. Asli" 2 => "M. Braun-Falco" 3 => "H. De Koning" 4 => "J.P. Fermand" 5 => "C. 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| Year/Month | Html | Total | |
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| 2024 November | 22 | 13 | 35 |
| 2024 October | 136 | 69 | 205 |
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