Scientific Letter
Congenital pachyonychia: A new case associated with the KRT17 gene
Paquioniquia congénita: nuevo caso asociado al gen KRT17
O. Micol-Martíneza, V. López-Gonzálezb,c, P.W. Garcia-Marcosa, T. Martínez-Menchónd, E. Guillén-Navarrob,c,
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a Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
b Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain
c Grupo Clínico vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
d Unidad de Dermatología Infantil, Servicio de Dermatología, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain
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(B) Keratosis pilaris in knees.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Pachyonychia congenita ([PC], OMIM #167200 and #167210) is a rare genodermatosis, with 1000 cases in patients from 270 families described to date. It has a pattern of autosomal dominant inheritance (40% <span class="elsevierStyleItalic">de novo</span> mutations), with complete penetrance and a variable expression.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> Its historical classification includes two types: type 1 (PC-1 or Jadassohn-Lewandowsky syndrome) and type 2 (PC-2 or Jackson-Lawler syndrome).<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1–3</span></a> At present, it is classified based on the gene involved in keratin synthesis where the mutation is found: PC-K6a (caused by mutations in the <span class="elsevierStyleItalic">KRT6A</span> gene, identified in 44% of the families), PC-K6b (<span class="elsevierStyleItalic">KRT6B</span>, 5% of families), PC-K6c (<span class="elsevierStyleItalic">KRT6C</span>, 2% of families) at the 12q13.13 locus, PC-K16 <span class="elsevierStyleItalic">(KRT16</span>, 25% of families) and PC-K17 (<span class="elsevierStyleItalic">KRT17</span>, remaining 24% of families) at the 17q21.2 locus.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1,3</span></a> Mutations in the <span class="elsevierStyleItalic">KRT6A</span> and <span class="elsevierStyleItalic">KRT16</span> genes correspond to the clinical features of PC-1; while mutations in the <span class="elsevierStyleItalic">KRT6B</span> and <span class="elsevierStyleItalic">KRT17</span> correspond to PC-2.</p><p id="par0010" class="elsevierStylePara elsevierViewall">We present the case of a boy that received a diagnosis of PC associated with a mutation in the <span class="elsevierStyleItalic">KRT17</span> gene at age 14 months.</p><p id="par0015" class="elsevierStylePara elsevierViewall">A 14-month-old boy of Moroccan descent visited the emergency department due to a respiratory infection. The physical examination revealed thickened and deformed nails in hands and feet, distal subungual hyperkeratosis and chromonychia (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). He had been admitted at birth due to the presence of two natal teeth in the lower gum that caused bleeding and difficulty feeding, requiring extraction. The relevant family history consisted of natal teeth in one uncle and one aunt (both paternal) in the absence of ungual involvement.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The initial differential diagnosis included congenital nail candidiasis and PC. A nail culture was performed that tested positive for <span class="elsevierStyleItalic">Candida albicans (C. albicans)</span>, with subsequent results being negative. The disease progressed with the development of steatocystomas in the cheeks and trunk and keratosis pilaris in the knees (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>) as well as painless plantar calluses, with no palmar keratoderma. Given the clinical suspicion of PC, sequencing of the <span class="elsevierStyleItalic">KRT17</span> gene was requested, which detected a heterozygous missense point mutation (c.284T<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>C; p.Leu95Pro).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The results of genetic testing of the parents were negative, suggesting a <span class="elsevierStyleItalic">de novo</span> mutation. The patient is currently 4 years of age and undergoing routine treatment with emollients and periodical nail plate grinding.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The main sign of PC is nail dystrophy, most commonly involving the two distal thirds of the nail plate. It may be associated with nail brittleness, chronic perionyxis and a predisposition to infection by <span class="elsevierStyleItalic">C. albicans</span> or bacterial pathogens. Therefore, the positive test result for <span class="elsevierStyleItalic">Candida</span> did not rule out a diagnosis of PC in our patient. Natal teeth are usually the earliest clinical manifestation. Palmoplantar hyperkeratosis is the most frequent manifestation, and is usually associated with hyperhidrosis and blisters. Other signs include follicular keratosis in arms, legs and buttocks and oral leukokeratosis. When the latter involves the larynx it causes hoarseness, and if it involves the eardrum it may cause deafness. Steatocystoma multiplex located in the trunk, limbs and underarms develops during adolescence.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a> There is no cure for the disease. Painful palmoplantar keratoderma is usually the most pressing complaint. Treatment with topical keratolytic agents or retinoids may offer temporary relief, while oral retinoids are prescribed for more severe cases. Nail involvement requires treatment with emollients, grinding of the nail plate and occasionally ablation. Steatocystoma multiplex and pilosebaceous cysts can be treated with puncture and drainage of their contents.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The heterozygous mutation c.284T<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>C (p.Leu95Pro) in gene <span class="elsevierStyleItalic">KRT17</span> has been reported previously in another patient with PC<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a> and in a case recorded in the International Pachyonychia Congenita Research Registry (IPCRR).<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a> The former was a sporadic case that did not present with natal teeth, and the latter a familial case with the same phenotype as our patient's. There is some degree of correlation between phenotype and genotype in both types of PC. Cases of PC-1 present more frequently with oral leukokeratosis (88% of <span class="elsevierStyleItalic">KRT6A</span> mutations, 41% of <span class="elsevierStyleItalic">KRT16</span> mutations), while natal teeth and steatocystomas are more characteristic of PC-2 (76% and 67%, respectively, in <span class="elsevierStyleItalic">KRT17</span> mutations).<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> This must be taken into account in the periodic evaluation of these patients. The prevalence of natal teeth in isolation is of one case in every 2000–3000 live births,<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">5</span></a> which is how natal teeth were interpreted in the paternal aunt and uncle of the patient.</p><p id="par0040" class="elsevierStylePara elsevierViewall">Molecular characterisation of PC allows for appropriate genetic counselling. Our patient has a 50% risk of transmitting PC to his offspring, and detection of the causal mutation will allow prenatal or preimplantation diagnosis in the future. As this was a <span class="elsevierStyleItalic">de novo</span> case, the risk of recurrence in future siblings is estimated at a maximum of 1% due to the possibility of germline mosaicism in one of the parents.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Despite the presence of key phenotypical features in the first year of life, only 25% of children receive the diagnosis during this period, which leads to inadequate management and advice in most cases.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</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: Micol-Martínez O, López-González V, Garcia-Marcos PW, Martínez-Menchón T, Guillén-Navarro E. Paquioniquia congénita: nuevo caso asociado al gen <span class="elsevierStyleItalic">KRT17</span>. An Pediatr (Barc). 2016;84:174–176.</p>" ] ] "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" => 1049 "Ancho" => 1400 "Tamanyo" => 185249 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Distal subungual hyperkeratosis and chromonychia in feet. (B) Distal subungual hyperkeratosis and chromonychia in hands.</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" => 880 "Ancho" => 1401 "Tamanyo" => 156317 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">(A) Localised steatocystoma in cheeks. (B) Keratosis pilaris in knees.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0040" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pachyonychia congenita" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "F.J. Smith" 1 => "C.D. Hansen" 2 => "P.R. Hull" 3 => "R.L. 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Huber" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1046/j.0022-202x.2001.01565.x" "Revista" => array:6 [ "tituloSerie" => "J Invest Dermatol" "fecha" => "2001" "volumen" => "117" "paginaInicial" => "1391" "paginaFinal" => "1396" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11886499" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0060" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Natal teeth: a review" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "A.K. Leung" 1 => "W.L. Robson" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Natl Med Assoc" "fecha" => "2006" "volumen" => "98" "paginaInicial" => "226" "paginaFinal" => "228" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16708508" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0065" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Post-zygotic point mutations are an underrecognized source of de novo genomic variation" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "R. Acuna-Hidalgo" 1 => "T. Bo" 2 => "M.P. Kwint" 3 => "M. van de Vorst" 4 => "M. Pinelli" 5 => "J.A. 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Paller" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1001/jamadermatol.2013.6448" "Revista" => array:6 [ "tituloSerie" => "JAMA Dermatol" "fecha" => "2014" "volumen" => "150" "paginaInicial" => "146" "paginaFinal" => "153" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24132595" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] "agradecimientos" => array:1 [ 0 => array:3 [ "titulo" => "Acknowledgments" "texto" => "<p id="par0050" class="elsevierStylePara elsevierViewall">We want to thank the Pachyonychia Congenita Project of the International Pachyonychia Congenita Research Registry (IPCRR-PC Project) of Salt Lake City, Utah, United States, for the inclusion of the patient for molecular testing by F.J.D. Smith and W.H.I. McLean of the University of Dundee in the United Kingdom.We also thank the family of the patient for their collaboration and for consenting to the publication of his clinical data and photographs.</p>" "vista" => "all" ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000008400000003/v1_201602260011/S2341287916000107/v1_201602260011/en/main.assets" "Apartado" => array:4 [ "identificador" => "38181" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000008400000003/v1_201602260011/S2341287916000107/v1_201602260011/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287916000107?idApp=UINPBA00005H" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 9 | 15 |
| 2024 October | 80 | 63 | 143 |
| 2024 September | 70 | 43 | 113 |
| 2024 August | 80 | 74 | 154 |
| 2024 July | 65 | 35 | 100 |
| 2024 June | 73 | 43 | 116 |
| 2024 May | 58 | 46 | 104 |
| 2024 April | 77 | 31 | 108 |
| 2024 March | 78 | 28 | 106 |
| 2024 February | 67 | 36 | 103 |
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| 2023 December | 112 | 17 | 129 |
| 2023 November | 93 | 29 | 122 |
| 2023 October | 86 | 33 | 119 |
| 2023 September | 57 | 32 | 89 |
| 2023 August | 38 | 23 | 61 |
| 2023 July | 62 | 22 | 84 |
| 2023 June | 64 | 23 | 87 |
| 2023 May | 81 | 18 | 99 |
| 2023 April | 44 | 18 | 62 |
| 2023 March | 95 | 29 | 124 |
| 2023 February | 48 | 11 | 59 |
| 2023 January | 41 | 24 | 65 |
| 2022 December | 93 | 36 | 129 |
| 2022 November | 100 | 33 | 133 |
| 2022 October | 59 | 41 | 100 |
| 2022 September | 62 | 27 | 89 |
| 2022 August | 55 | 61 | 116 |
| 2022 July | 64 | 43 | 107 |
| 2022 June | 64 | 43 | 107 |
| 2022 May | 55 | 56 | 111 |
| 2022 April | 39 | 47 | 86 |
| 2022 March | 69 | 44 | 113 |
| 2022 February | 68 | 34 | 102 |
| 2022 January | 64 | 42 | 106 |
| 2021 December | 76 | 48 | 124 |
| 2021 November | 70 | 59 | 129 |
| 2021 October | 139 | 75 | 214 |
| 2021 September | 83 | 51 | 134 |
| 2021 August | 66 | 46 | 112 |
| 2021 July | 53 | 33 | 86 |
| 2021 June | 77 | 38 | 115 |
| 2021 May | 64 | 28 | 92 |
| 2021 April | 179 | 114 | 293 |
| 2021 March | 104 | 31 | 135 |
| 2021 February | 65 | 18 | 83 |
| 2021 January | 80 | 24 | 104 |
| 2020 December | 83 | 27 | 110 |
| 2020 November | 80 | 24 | 104 |
| 2020 October | 97 | 19 | 116 |
| 2020 September | 85 | 32 | 117 |
| 2020 August | 72 | 22 | 94 |
| 2020 July | 65 | 16 | 81 |
| 2020 June | 66 | 15 | 81 |
| 2020 May | 53 | 22 | 75 |
| 2020 April | 41 | 21 | 62 |
| 2020 March | 39 | 17 | 56 |
| 2020 February | 41 | 12 | 53 |
| 2020 January | 32 | 20 | 52 |
| 2019 December | 49 | 24 | 73 |
| 2019 November | 43 | 15 | 58 |
| 2019 October | 34 | 18 | 52 |
| 2019 September | 44 | 19 | 63 |
| 2019 August | 45 | 22 | 67 |
| 2019 July | 38 | 45 | 83 |
| 2019 June | 58 | 25 | 83 |
| 2019 May | 128 | 30 | 158 |
| 2019 April | 83 | 26 | 109 |
| 2019 March | 36 | 15 | 51 |
| 2019 February | 48 | 12 | 60 |
| 2019 January | 43 | 16 | 59 |
| 2018 December | 53 | 33 | 86 |
| 2018 November | 52 | 37 | 89 |
| 2018 October | 58 | 10 | 68 |
| 2018 September | 35 | 11 | 46 |
| 2018 August | 2 | 0 | 2 |
| 2018 July | 2 | 0 | 2 |
| 2018 June | 6 | 0 | 6 |
| 2018 May | 4 | 0 | 4 |
| 2018 April | 26 | 0 | 26 |
| 2018 March | 26 | 0 | 26 |
| 2018 February | 19 | 0 | 19 |
| 2018 January | 21 | 0 | 21 |
| 2017 December | 14 | 0 | 14 |
| 2017 November | 18 | 0 | 18 |
| 2017 October | 28 | 0 | 28 |
| 2017 September | 13 | 0 | 13 |
| 2017 August | 17 | 0 | 17 |
| 2017 July | 16 | 0 | 16 |
| 2017 June | 26 | 10 | 36 |
| 2017 May | 17 | 4 | 21 |
| 2017 April | 16 | 7 | 23 |
| 2017 March | 6 | 5 | 11 |
| 2017 February | 10 | 3 | 13 |
| 2017 January | 8 | 2 | 10 |
| 2016 December | 19 | 12 | 31 |
| 2016 November | 25 | 6 | 31 |
| 2016 October | 27 | 6 | 33 |
| 2016 September | 33 | 10 | 43 |
| 2016 August | 12 | 3 | 15 |
| 2016 July | 8 | 1 | 9 |
| 2016 May | 2 | 0 | 2 |
| 2016 March | 1 | 0 | 1 |
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