Scientific Letter
Pulmonary Manifestation of a Primarily Mucocutaneous Hereditary Disease
Manifestación pulmonar de una enfermedad hereditaria de expresión fundamentalmente mucocutánea
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"Pulmonary Manifestation of a Primarily Mucocutaneous Hereditary Disease" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "468" "paginaFinal" => "469" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Virginia Guevara Velázquez, José María González Ruiz, Elena García Arias-Salgado, Rosa Cordovilla Pérez, Miguel Iglesias Heras, Miguel Ángel Hernández Mezquita, Marco López Zubizarreta" "autores" => array:7 [ 0 => array:4 [ "nombre" => "Virginia" "apellidos" => "Guevara Velázquez" "email" => array:1 [ 0 => "vgueva91@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "José María" "apellidos" => "González Ruiz" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" 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"identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Neumología, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Advanced Medical Projects, CSIC-UAM, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Neumología, Hospital Nuestra Señora de Sonsoles, Ávila, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Manifestación pulmonar de una enfermedad hereditaria de expresión fundamentalmente mucocutánea" ] ] "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" => 869 "Ancho" => 1750 "Tamanyo" => 240546 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Mucocutaneous manifestations: nail dystrophy, reticular pigmentation, and oral leukoplakia. (B) High-resolution computed axial tomography.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Dyskeratosis congenita or Zinsser-Cole-Engman syndrome is a rare hereditary disease with multisystemic involvement. At least 12 genes related to telomere maintenance have been implicated in the pathogenesis of the disease.</p><p id="par0010" class="elsevierStylePara elsevierViewall">In terms of clinical symptoms, nail dystrophy, reticular pigmentation, and oral leukoplakia are the most common manifestations in this disease. Pulmonary fibrosis, although it affects only 20% of patients, causes the greatest morbidity and mortality.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">1</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">We report the case of a 49-year-old man, referred to a pulmonology outpatient clinic due to a 6-month history of dry cough. He had seasonal rhinoconjunctivitis and dust allergy and worked in a transport company in frequent contact with truck exhaust fumes. In 2000, he was diagnosed with X-linked congenital dyskeratosis by the dermatology department, with symptoms of nail dystrophy, reticular pigmentation, and oral leukoplakia (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A). He was also being monitored by the hematology department for aplastic anemia. Karyotype analysis in peripheral blood and bone marrow was normal. Regarding family history, only one cousin on his mother's side had been diagnosed with congenital dyskeratosis. His parents were dead and his brothers had also died when they were young, cause unknown.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Lung auscultation revealed bibasal velcro crackles and resting oxygen saturation by pulse oximetry was 98%. Chest X-ray showed predominantly reticular involvement in both upper lobes and blood test results, including the autoimmunity study, were normal.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The patient showed evidence of moderate restriction and decreased carbon monoxide diffusion capacity (DLCO) in respiratory function tests (FEV<span class="elsevierStyleInf">1</span> 71%; FVC 71%; FEV<span class="elsevierStyleInf">1</span>/FVC 60%; TLC 66%; DLCO 62%). He also had significant desaturation during the 6-minute walk test, and covered less distance than predicted, showing moderate dyspnea at the end of the test.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The study was extended with high-resolution computed tomography (HRCT) which showed diffuse parenchymal involvement, with increased volume reduction in the left hemitorax and reticular opacities with bronchiectasis and traction bronchiolectasis in both upper lobes and the lingula, consistent with fibrosing disease <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</p><p id="par0035" class="elsevierStylePara elsevierViewall">Bronchoscopy was also performed with aspiration and bronchoalveolar lavage: cytology and microbiological results were negative. Given these findings, antifibrotic treatment was started with nintedanib, which was well tolerated.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Telomeres were analyzed in the Telomeropathy Detection Department of the CSIC Institute of Biomedical Research. The study showed that the patient's telomere length was below the 10th percentile compared to the healthy population of the same age. Exon sequencing of the <span class="elsevierStyleItalic">DKC1</span> gene, associated with X-DC, showed the pathogenic variant (NM_001363.4) c.203rd>G; p.H68R in exon 4 of the <span class="elsevierStyleItalic">DKC1</span> gene in homocygosis. A family genetic study was not possible, as the patient's brothers and parents had died.</p><p id="par0045" class="elsevierStylePara elsevierViewall">A diagnosis of mild-moderate fibrosing disease (GAP 3, stage I), associated with congenital dyskeratosis with hematological and cutaneous involvement and telomere shortening, was given.</p><p id="par0050" class="elsevierStylePara elsevierViewall">In the last 3 months, the patient presented functional progression (57% FVC and 26% DLCO) and radiological progression on HRCT, with signs of honeycombing, with multiple cysts predominantly in the upper lobes and in the left lung, and an increased pulmonary artery caliber indicating pulmonary hypertension.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Given this rapid decline, with poor response to treatment, he was referred to 3 reference centers to be evaluated for lung transplantation. All centers rejected the procedure due to the high risk, given their limited experience in this type of patients, and the poor prognosis and likelihood of post-transplantation morbidity. Palliative care was intensified, particularly for the patient's disabling dyspnea. In June 2019, he died of respiratory failure.</p><p id="par0060" class="elsevierStylePara elsevierViewall">The true prevalence of dyskeratosis congenita is unknown. It has been estimated to affect approximately 1 in 1 million of the population. Genetic variants with different degrees of penetrance and severity and 3 types of genetic inheritance have been identified: autosomal recessive, X-linked, and autosomal dominant.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">2</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Genes associated with congenital dyskeratosis and telomere shortening to date include <span class="elsevierStyleItalic">CTC1, ACD, NHP2, DKC1, PARN, NOP10, TERC, RTEL1, TINF2, TERT</span>, and <span class="elsevierStyleItalic">WRAP53</span>. The dyskerin pseudouridine synthetase 1 (<span class="elsevierStyleItalic">DKC1</span>) gene is the most common (30%) and inheritance is X-linked: about 40 pathogenic variants of this gene have been described. However, the causative gene is not identified in 20%–30% of cases.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">3</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">As observed in the clinical case presented, although mucocutaneous manifestations are the most frequent, pulmonary fibrosis constitutes one of the most serious manifestations.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">1</span></a> It affects about 1 in 5 individuals with dyskeratosis congenita.<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">4</span></a> It is usually diagnosed in individuals aged 20 to 40 years as a result of the study of respiratory symptoms or respiratory infection.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">5</span></a> In some cases, it develops after bone marrow transplantation. In others the cause is unknown.</p><p id="par0075" class="elsevierStylePara elsevierViewall">The combination of pulmonary fibrosis and bone marrow failure is a powerful predictor of telomere dysfunction.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">6</span></a> Telomere shortening is described in up to 25% of cases of idiopathic pulmonary fibrosis and in more than 50% of family forms and contributes to increased epithelial apoptosis.</p><p id="par0080" class="elsevierStylePara elsevierViewall">The mean survival of patients with associated idiopathic pulmonary fibrosis is less than 3 years from diagnosis.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">7</span></a> However, these patients mainly die due to complications from bone marrow failure (60%–70%).</p><p id="par0085" class="elsevierStylePara elsevierViewall">The only treatment that has been shown to prolong survival in these patients is lung transplantation.<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">8</span></a> However, when telomere shortening is an associated factor, prognosis is worse and post-transplant morbidity is more severe than in cases of non-familial idiopathic pulmonary fibrosis.<a class="elsevierStyleCrossRefs" href="#bib0110"><span class="elsevierStyleSup">9–11</span></a> Experience is scant, but cases with good outcomes have been reported in the literature and some authors believe that transplantation is a feasible option in these patients.<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">2,12</span></a></p><p id="par0090" class="elsevierStylePara elsevierViewall">Given the rapid progress of this disease, screening for telomere shortening is a very important tool for selecting patients for referral for expeditious lung transplantation.<a class="elsevierStyleCrossRef" href="#bib0130"><span class="elsevierStyleSup">13</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Guevara Velázquez V, González JM, García Arias-Salgado E, Cordovilla Pérez R, Iglesias Heras M, Hernández Mezquita MÁ, et al. Manifestación pulmonar de una enfermedad hereditaria de expresión fundamentalmente mucocutánea. Arch Bronconeumol. 2020;56:468–469.</p>" ] ] "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" => 869 "Ancho" => 1750 "Tamanyo" => 240546 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Mucocutaneous manifestations: nail dystrophy, reticular pigmentation, and oral leukoplakia. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 7 | 2 | 9 |
| 2024 October | 41 | 19 | 60 |
| 2024 September | 42 | 22 | 64 |
| 2024 August | 72 | 42 | 114 |
| 2024 July | 34 | 22 | 56 |
| 2024 June | 61 | 43 | 104 |
| 2024 May | 73 | 33 | 106 |
| 2024 April | 24 | 26 | 50 |
| 2024 March | 34 | 18 | 52 |
| 2024 February | 36 | 15 | 51 |
| 2023 March | 9 | 6 | 15 |
| 2023 February | 45 | 16 | 61 |
| 2023 January | 37 | 33 | 70 |
| 2022 December | 47 | 31 | 78 |
| 2022 November | 72 | 22 | 94 |
| 2022 October | 58 | 30 | 88 |
| 2022 September | 43 | 21 | 64 |
| 2022 August | 31 | 37 | 68 |
| 2022 July | 35 | 34 | 69 |
| 2022 June | 25 | 36 | 61 |
| 2022 May | 23 | 27 | 50 |
| 2022 April | 24 | 30 | 54 |
| 2022 March | 31 | 43 | 74 |
| 2022 February | 14 | 18 | 32 |
| 2020 October | 1 | 0 | 1 |
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