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Comunicaciones Y Pósteres Comunicaciones y pósteres Patrocina COMUNICACIONES PÓSTERES ÍNDICE DE AUTORES ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES COMUNICACIONES ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES ÍNDICE COMUNICACIONES O-01 . 1 O-10 . 21 SÍNDROME DE ICTIOSIS-PREMATURIDAD ESCLERODERMIA LINEAL Y SÍNDROME DE BUSCHKE-OLLENDORF. UNA ESTRECHA RELACIÓN O-02 . 3 INTERCONSULTA DE MEDIODÍA… RECIÉN O-11 . 24 NACIDA CON EROSIONES Y SINDACTILIA DISPLASIA ECTODÉRMICA-FRAGILIDAD CUTÁNEA. DOS CASOS DE DIFÍCIL O-03 . 5 DIAGNÓSTICO Y MANEJO HIPOPLASIA DÉRMICA FOCAL. A PROPÓSITO DE UN CASO O-12 . 27 SÍNDROME TELANGIECTASIA-DISPLASIA O-04 . 7 ECTODÉRMICA DEBIDO A MUTACIONES HETEROCIGOTAS DE NOVO EN PROTEÍNA INCONTINENCIA PIGMENTI: KINASA D1 12 CASOS Y REVISIÓN DE LA LITERATURA O-13 . 29 O-05 . 9 XERODERMA PIGMENTOSO: SÍNDROME DE ROTHMUND-THOMPSON: CARACTERÍSTICAS FENOTÍPICAS Y PRESENTACIÓN DE 2 CASOS GENOTÍPICAS DE UNA SERIE DE 22 PACIENTES O-06 . 11 O-14 . 32 POIQUILODERMIA CONGÉNITA: MANCHAS CAFÉ CON LECHE Y LÉNTIGOS UN RETO DIAGNÓSTICO GENERALIZADOS O-07 . 13 O-15 . 34 SÍNDROME DE EHLERS-DANLOS: SÍNDROME PROGEROIDE CON CICATRICES NUESTRA EXPERIENCIA Y LESIONES ACRALES: MUTACIÓN EN EL PDGFRB Y POSIBLE DIANA TERAPÉUTICA O-08 . .. 15 LA PIEL COMO CLAVE DIAGNÓSTICA O-16 . 36 EN LA MIOPATÍA CONGÉNITA MEGACONIAL LACTANTE CON PSORIASIS PUSTULOSA GENERALIZADA O-09 . .. 18 SÍNDROME DE BUSCHKE-OLLENDORFF Y O-17 . 39 NEVUS DE TEJIDO CONECTIVO EN PLACA CON SERIE DE CASOS DE DIVERSOS TIPOS DE PRESENCIA DE ELASTORREXIS MORFEA EN UNA POBLACIÓN PEDIÁTRICA ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES ÍNDICE COMUNICACIONES O-18 . 41 O-27 . 62 ESCLERODERMIA LINEAL Y VITÍLIGO COMO INFECCIÓN POR VIRUS HERPES SIMPLE EN FORMA DE PRESENTACIÓN DE EICH CRÓNICO NEONATO CON MADRE ASINTOMÁTICA EN PACIENTE TRASPLANTADO DE MÉDULA ÓSEA O-28 . 64 O-19 . 44 RETO DIAGNÓSTICO: ¿MICOSIS FUNGOIDE, LIQUEN NITIDUS: ESTUDIO DESCRIPTIVO DE UNA PITIRIASIS LIQUENOIDE O AMBAS? SERIE DE 26 CASOS EN LA EDAD PEDIÁTRICA O-29 . 65 O-20 . 47 VALORACIÓN DE SECUELAS ESTÉTICAS TRES CASOS DE DEFICIENCIA DE ADENOSÍN- EN PACIENTES CON HEMANGIOMAS DEAMINASA 2 RESIDUALES TRATADOS Y NO TRATADOS CON PROPRANOLOL O-21 . 49 O-30 . 68 EL DIARIO DE NOA HEMANGIOMAS HEPÁTICOS CONGÉNITOS UNIFOCALES. UNA SERIE DE 13 PACIENTES O-22. 51 ENFERMEDAD INJERTO CONTRA HUÉSPED O-31 . 70 CUTÁNEA: EXPERIENCIA CLÍNICA EN UN HOSPITAL PEDIÁTRICO DE TERCER NIVEL HEMANGIOMAS CONGÉNITOS NO INVOLUTIVOS: ¿ES SIEMPRE NECESARIA LA BIOPSIA? O-23. 53 DERMATOSIS IGA LINEAL DE LA INFANCIA: O-32 .. 73 ESTUDIO MULTICÉNTRICO MALFORMACIONES CAPILARES DEL TRONCO. CLAVES PARA LA IDENTIFICACIÓN PRECOZ DE O-24 . 55 ANOMALÍAS VASCULARES NIÑA DE 7 AÑOS CON LIVEDO RETICULARIS Y FENÓMENO DE RAYNAUD O-33 .. 76 A PROPÓSITO DE UNA FAMILIA CON UNA O-25. 57 NUEVA MUTACIÓN RASA1 TRATAMIENTO DEL FENÓMENO DE RAYNAUD PRIMARIO Y SECUNDARIO CON TOXINA O-34 . 78 BOTULÍNICA A: SERIE DE 8 CASOS UTILIDAD DE LA ECOGRAFÍA CUTÁNEA EN LA EVALUACIÓN DE LAS LESIONES O-26 . 60 SUBCUTÁNEAS EN LA INFANCIA CALCINOSIS CUTIS IDIOPÁTICA EN UN VARÓN DE 9 AÑOS ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES 1 COMUNICACIONES O-01 SÍNDROME DE ICTIOSIS-PREMATURIDAD Perea Polak A, Simonsen S, Andamoyo Castañeda A, Godoy Díaz J, Vera Casaño, Martínez Pilar L Hospital Regional Universitario de Málaga CASO CLÍNICO Presentamos el caso de un recién nacido pretérmino de sexo femenino, naci- da en la semana 31 por cesárea por sospecha de corioamnionitis, que al nacer presentaba escasa vitalidad y mala coloración por lo cual requiere ingreso en la unidad de cuidados intensivos de neonatología. Presentaba distrés respira- torio agudo que precisó de soporte ventilatorio. A nivel cutáneo, destacaba la presencia de una hiperqueratosis generalizada con presencia de vérnix caseoso y una intensa hiperqueratosis palmo-plantar. Además, presentaba unos marcados pliegues cutáneos y piel macerada a nivel de espalda, glúteo y parte posterior de extremidades inferiores. A nivel analítico destacaba leucocitosis con eosinofilia. Los hallazgos clínicos y analíticos eran sugestivos de síndrome de ictiosis-prematuridad, pendiente de confirmación con estudio genético. Se inició tratamiento con vaselina líquida en todo el cuerpo y vaselina salicílica al 8% en las zonas de mayor hiperqueratosis. A los pocos días, presentó signos de isquemia distal a nivel de dedos de manos y pies, llegando a presentar necrosis en falanges distales, secundario a la intensa hiperqueratosis palmo- plantar. Se decide tratamiento conservador para su isquemia, con incisiones de descarga, perfusión de Iloprost, bloqueo simpático axilar y fisioterapia para mejorar la movilidad de los dedos con lo que se consigue reperfusión completa y conservación de todos los dedos. ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES 2 COMUNICACIONES Tras el alta, seguimos a la paciente en consulta, con buena evolución, persis- tiendo leve hiperqueratosis, más acentuada a nivel de cuero cabelludo. Tras el estudio genético, se confirmó el diagnóstico de síndrome ictiosis-prematuridad con mutación en homocigosis en el gen SLC27A4, siendo ambos padres por- tadores sanos del gen. DISCUSIÓN El síndrome ictiosis-prematuridad es una ictiosis congénita autosómica rece- siva, poco frecuente que forma parte del grupo de las ictiosis sindrómicas. Se debe a una mutación en los genes FATP4 o SLC27A4 que juegan un papel en el transporte de ácidos grasos que son esenciales para el mantenimiento de la barrera epidérmica. A nivel clínico, se caracteriza por la presencia de prematuridad (con antecedente de polihidroamnios y/o corioamnionitis), distrés respiratorio agudo, eosinofilia y cambios a nivel cutáneo característicos. Dichos cambios consisten en hiper- queratosis generalizada macerada que simula un vérnix caseoso, siendo más intensa en el cuero cabelludo y a nivel palmo-plantar, así como redundancia de pliegues cutáneos que recuerdan a los perros de raza Shar Pei. A pesar de la llamativa clínica cutánea al nacer, esos pacientes suelen presentar buena evolución, persistiendo a los meses de vida una ictiosis leve. Existe un riesgo aumentado de muerte perinatal a causa de la insuficiencia respiratoria aguda, provocada por la presencia de tapones de material epidérmico que obstruyen las vías respiratorias. Sin embargo, si se supera ese periodo, los pa- cientes presentan buen pronóstico, siendo la complicación más común a largo plazo la presencia de dermatitis atópica y alergias alimentarias. BIBLIOGRAFÍA • Bueno E, Canueto J, García-Patos V, Vicente MA, Bodet-Castillo D, Hernán- dez-Ruiz ME, et al. Novel mutations in FATP4 gene in two families with ichthyosis prematurity syndrome. J Eur AcadDermatol Venereol 2017;31:e11-3. • Severino-Freire M, Bing Lecointe AC, Bourrat E, Pichery M, Jonca N, Chia- verini C, Mazereeuw-Hautier J. Ichthyosis prematurity syndrome: Two new cases. Ann Dermatol Venereol. 2018 Oct;145(10):603-6. ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES 3 COMUNICACIONES O-02 INTERCONSULTA DE MEDIODÍA… RECIÉN NACIDA CON EROSIONES Y SINDACTILIA Hernández Ruiz E(1), González Enseñat MªA(2), Vicente Villa A(2), Jou C(3), Porta R(4), García Patos V(1) (1)Servicio de Dermatología. Hospital Universitari Vall d’Hebron, Barcelona. (2)Servicio de Dermatología. Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona. (3)Servicio de Anatomía Patológica. Hospital Universitari Dexeus, Barcelona. (4)Servicio de Neonatología. Hospital Universitari Dexeus. Grupo Quirón Dexeus, Barcelona. INTRODUCCIÓN La hipoplasia dérmica focal o síndrome de Goltz es una genodermatosis de herencia ligada al X, ocasionada por mutaciones en el gen PORCN. Los pa- cientes afectos suelen ser mujeres, aunque se han descrito casos en varones (10%, en formas mosaico). Es un trastorno multisistémico en el que pueden verse afectadas estructuras derivadas del ectodermo (piel, ojos, uñas, SNC) y mesodermo (huesos). CASO CLÍNICO Presentamos el caso de una niña recién nacida, fruto de la primera gestación de unos padres sanos. En la semana 28 de gestación se detectó un retraso de crecimiento intrauterino. En la última ecografía, a las 37 semanas de gestación, se detectó alteración del registro doppler fetal, por lo que se programó cesárea. Al nacer la niña presentó hipodinamia respiratoria, que precisó reanimación con presión positiva y CPAP, hipotonía axial y lesiones cutáneas. La niña pre- sentaba grandes áreas erosivas en ambos pliegues axilares y lesiones papulares de aspecto pseudovesiculoso, a lo largo de ambas extremidades inferiores. En la cara posterior de ambas piernas presentaba unos nódulos eritematosos de tacto gomoso. También eran evidentes malformaciones óseas en EEII con sin- ÍNDICE COMUNICACIONES ÍNDICE PÓSTERES ÍNDICE AUTORES 4 COMUNICACIONES dactilia en ambos pies, así como varias uñas de aspecto distrófico, en manos y en pies, con uñas triangulares y estrías. En el resto de la exploración llamaba la atención una placa de aplasia cutis en el vértex y atrofia del labio superior derecho. Se practicó una biopsia cutánea de una lesión vesiculosa en rodilla derecha. RESULTADOS La biopsia cutánea mostraba una epidermis normal, dermis muy adelgazada y nidos de tejido adiposo casi a nivel de epidermis. La orientación clínica fue de hipoplasia dérmica focal, pero la paciente sigue pendiente de confirmación mediante estudio genético. DISCUSIÓN La presencia de pequeñas áreas de piel de aspecto atrófico en los laterales del tórax fueron la clave para sospechar que la paciente padecía un síndrome de Goltz o hipoplasia dérmica focal. Las grandes áreas erosivas
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