<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462022000100056</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.21000013</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico]]></article-title>
<article-title xml:lang="es"><![CDATA[Síndrome de Rothmund-Thomson: serie de casos de un hospital pediátrico de tercer nivel en México]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez-Padilla]]></surname>
<given-names><![CDATA[Alicia P.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valencia-Herrera]]></surname>
<given-names><![CDATA[Adriana M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Toledo-Bahena]]></surname>
<given-names><![CDATA[Mirna E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mena-Cedillos]]></surname>
<given-names><![CDATA[Carlos A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Toussaint-Caire]]></surname>
<given-names><![CDATA[Sonia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Infantil de México Federico Gómez Servicio de Dermatología Pediátrica ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital General Dr. Manuel Gea González Departamento de Dermatopatología ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2022</year>
</pub-date>
<volume>79</volume>
<numero>1</numero>
<fpage>56</fpage>
<lpage>61</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462022000100056&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462022000100056&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462022000100056&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level.  Case reports: Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed.  Conclusions: Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: El síndrome de Rothmund-Thomson, también conocido como poiquilodermia congénita, es una rara genodermatosis autosómica recesiva de inicio en la infancia temprana y afectación multisistémica.  Casos clínicos: Se describen dos casos de pacientes con síndrome de Rothmund-Thomson. Caso 1. Paciente de sexo masculino de 4 años de edad, padres consanguíneos, hermano de 26 años con diagnóstico probable de síndrome de Rothmund-Thompson. Presentó adactilia del pulgar derecho, hipoplasia de pulgar izquierdo, retraso en el crecimiento y retraso del desarrollo psicomotor. A los 3 meses de edad mostraba pelo áspero, seco y escaso, y lesiones eritematosas en la cara, las cuales dejaron manchas hiperpigmentadas e hipopigmentadas con patrón reticulado. Se detectaron hipoacusia, alteraciones esqueléticas, mentón estrecho, talla baja, desnutrición grave e hipodontia crónica y asintomática. La secuenciación genética resultó con mutación para el gen RECQL4, por lo que se dio seguimiento multidisciplinario por los servicios de genética, gastroenterología, nutrición, endocrinología, estomatología, audiología, ortopedia, rehabilitación, oftalmología y oncología. Caso 2. Paciente de sexo femenino de 2 años de edad que a los 3 meses de vida inició con eritema facial que se diseminó a los brazos y la piernas; la biopsia de piel reportó poiquilodermia. Se encuentra en seguimiento por el servicio de endocrinología por talla baja e hipogonadismo. No se realizó estudio genético.  Conclusiones: El síndrome de Rothmund-Thomson se caracteriza por atrofia. Existen pocos casos reportados en la literatura. Se presentan dos casos de síndrome de Rothmund-Thomson, enfatizando sus características clínicas y dermatológicas.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Rothmund-Thomson síndrome]]></kwd>
<kwd lng="en"><![CDATA[Congenital poikiloderma]]></kwd>
<kwd lng="en"><![CDATA[Genodermatosis]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Rothmund-Thomson]]></kwd>
<kwd lng="es"><![CDATA[Poiquilodermia congénita]]></kwd>
<kwd lng="es"><![CDATA[Genodermatosis]]></kwd>
</kwd-group>
</article-meta>
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