<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1727-897X</journal-id>
<journal-title><![CDATA[MediSur]]></journal-title>
<abbrev-journal-title><![CDATA[Medisur]]></abbrev-journal-title>
<issn>1727-897X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos, Centro Provincial de Ciencias Médicas, Provincia de Cienfuegos.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1727-897X2023000300690</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Jadassohn-Lewandowsky. Reporte del primer caso pediátrico en Cuba]]></article-title>
<article-title xml:lang="en"><![CDATA[Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hidalgo Muñiz]]></surname>
<given-names><![CDATA[Migdalis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hernández García]]></surname>
<given-names><![CDATA[Aracelis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Andrés Matos]]></surname>
<given-names><![CDATA[Andrés]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Maldonado Martínez]]></surname>
<given-names><![CDATA[Yadelis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Pediátrico Provincial Octavio de la Concepción de la Pedraja  ]]></institution>
<addr-line><![CDATA[Holguín ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2023</year>
</pub-date>
<volume>21</volume>
<numero>3</numero>
<fpage>690</fpage>
<lpage>694</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1727-897X2023000300690&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1727-897X2023000300690&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1727-897X2023000300690&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN El síndrome de Jadassohn-Lewandowsky o paquioniquia congénita tipo 1 pertenece al grupo de las enfermedades raras. A nivel mundial se han descrito hasta la fecha menos de mil casos y el que ahora se publica constituye el primer reporte en la edad pediátrica en Cuba. Es un paciente masculino, de siete años de edad ingresado en el Servicio de Clínicas Pediátricas del Hospital Pediátrico Provincial de Holguín con antecedentes de uñas amarillas e hipertróficas desde los nueve meses de edad. Al examen físico se constató la presencia de distrofia ungueal hipertrófica en las 20 uñas, queratosis folicular en codos, manos y miembros inferiores, queratodermia plantar focal y leucoqueratosis oral. Se identificó un patrón de herencia autosómico dominante. Basado en las características fenotípicas y los antecedentes familiares se clasificó el caso presentado como paquioniquia congénita tipo 1, para la cual aún no existe cura y la terapia génica se encuentra en investigación. Por lo poco común de la enfermedad y ser el primer caso en edad pediátrica en Cuba, se decidió su publicación.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Jadassohn-Lewandowsky syndrome or congenital pachyonychia type 1 belongs to the rare diseases&#8217; group. Worldwide, less than a thousand cases have been described to date and the one that is now published constitutes the first pediatric age report in Cuba. A seven-years-old male patient admitted to the Pediatric Clinic Service at the Holguín Provincial Pediatric Hospital with a history of yellow and hypertrophic nails since he was nine months old. The physical examination confirmed the presence of hypertrophic nail dystrophy in all 20 nails, keratosis follicularis on the elbows, hands and lower limbs, focal plantar keratoderma and oral leukokeratosis. An autosomal dominant inheritance pattern was identified. Based on the phenotypic characteristics and family history, the case presented was classified as congenital pachyonychia type 1, for which there is still no cure and gene therapy is under investigation. Due to the rareness of the disease and being the first pediatric age case in Cuba, its publication was decided.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[paquioniquia congénita]]></kwd>
<kwd lng="es"><![CDATA[queratodermia]]></kwd>
<kwd lng="es"><![CDATA[queratosis]]></kwd>
<kwd lng="es"><![CDATA[leucoplasia bucal]]></kwd>
<kwd lng="es"><![CDATA[enfermedades raras]]></kwd>
<kwd lng="en"><![CDATA[pachyonychia congenital]]></kwd>
<kwd lng="en"><![CDATA[keratosis]]></kwd>
<kwd lng="en"><![CDATA[leukoplakia, oral]]></kwd>
<kwd lng="en"><![CDATA[rare diseases]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[González Lamuño]]></surname>
<given-names><![CDATA[LD]]></given-names>
</name>
<name>
<surname><![CDATA[Cruz Villalba]]></surname>
<given-names><![CDATA[J.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Las enfermedades raras desde la Atención Primaria]]></article-title>
<source><![CDATA[AEPap(ed). Curso de Actualización en Pediatría]]></source>
<year>2017</year>
<page-range>133-42</page-range><publisher-loc><![CDATA[Madrid ]]></publisher-loc>
<publisher-name><![CDATA[Lúa Ediciones 3.0]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[García Izquierdo]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Urquiaga]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Paquioniquia congénita a propósito de un caso]]></article-title>
<collab>De los Ríos P.Urquiaga J</collab>
<source><![CDATA[Dermatol Perú]]></source>
<year>2009</year>
<volume>19</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>330-7</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Cerón-Narváez]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Cerón-Narváez]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Dorado]]></surname>
<given-names><![CDATA[DF]]></given-names>
</name>
<name>
<surname><![CDATA[Acosta-Aragón]]></surname>
<given-names><![CDATA[MA.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Paquioniquia congénita tipo I o síndrome de Jadassohn-Lewandowsky: un caso de presentación familiar.]]></article-title>
<source><![CDATA[Medicina &amp; Laboratorio]]></source>
<year>2020</year>
<volume>24</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>333-43</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ortiz Olivares]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Blanco Santisteban]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
<name>
<surname><![CDATA[Herrera Álvarez]]></surname>
<given-names><![CDATA[MJ.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Síndrome de Jackson-Lawler. A propósito de un caso]]></article-title>
<source><![CDATA[Multimed]]></source>
<year>2018</year>
<volume>22</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>1252-9</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Steele]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[O´Toole]]></surname>
<given-names><![CDATA[EA.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pachyonychia congenita, a paradigm for rare skin disorders]]></article-title>
<source><![CDATA[Br J Dermatol]]></source>
<year>2020</year>
<volume>182</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>521-2</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Micol-Martínez]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[López-González]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[García-Marcos]]></surname>
<given-names><![CDATA[PW]]></given-names>
</name>
<name>
<surname><![CDATA[Martínez-Menchón]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Guillén-Navarro]]></surname>
<given-names><![CDATA[E.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Paquioniquia congénita: nuevo caso asociado al gen KRT17.]]></article-title>
<source><![CDATA[Anales de Pediatría]]></source>
<year>2016</year>
<volume>84</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>174-6</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Eliason]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Leachman]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Feng]]></surname>
<given-names><![CDATA[BJ]]></given-names>
</name>
<name>
<surname><![CDATA[Schwartz]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Hansen]]></surname>
<given-names><![CDATA[CD.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita]]></article-title>
<source><![CDATA[J Am Acad Dermatol]]></source>
<year>2012</year>
<volume>67</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>680-6</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Combalia]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Fustà-Novell]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Estrach]]></surname>
<given-names><![CDATA[T.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Onicodistrofia y leucoqueratosis oral en un paciente varón de 15 años]]></article-title>
<source><![CDATA[Actas Dermosifiliogr]]></source>
<year>2020</year>
<volume>111</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>323-4</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gruber]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Edlinger]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kaspar]]></surname>
<given-names><![CDATA[RL]]></given-names>
</name>
<name>
<surname><![CDATA[Hansen]]></surname>
<given-names><![CDATA[CD]]></given-names>
</name>
<name>
<surname><![CDATA[Leachman]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Milstone]]></surname>
<given-names><![CDATA[LM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[An appraisal of oral retinoids in the treatment of pachyonychia congenita.]]></article-title>
<source><![CDATA[J Am Acad Dermatol]]></source>
<year>2012</year>
<volume>66</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>193-9</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brill]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sprecher]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[FJD]]></given-names>
</name>
<name>
<surname><![CDATA[Geva]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Gruener]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Nahman Averbuch]]></surname>
<given-names><![CDATA[H.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Chronic pain in pachyonychia congenita: Evidence for neuropathic origin]]></article-title>
<source><![CDATA[Br J Dermatol]]></source>
<year>2018</year>
<volume>179</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>154-7</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Greco]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Ponsen]]></surname>
<given-names><![CDATA[AC]]></given-names>
</name>
<name>
<surname><![CDATA[Leclerc-Mercier]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Schlatter]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Cisternino]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Boucheix]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Bodemer]]></surname>
<given-names><![CDATA[C.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors.]]></article-title>
<source><![CDATA[Biomedicines]]></source>
<year>2022</year>
<volume>10</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>841</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
