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6. Spanish consensus on infantile haemangioma

Author

Baselga Torres, Eulalia, Bernabéu Wittel, José, van Esso Arbolave, Diego L., Febrer Bosch, María Isabel, Carrasco Sanz, Ángel, de Lucas Laguna, Raúl, del Pozo Losada, Jesús, Hernández Martín, Ángela, Jiménez Montañés, Lorenzo, López Gutiérrez, Juan Carlos, Martín-Santiago, Ana, Redondo Bellón, Pedro, Ruíz-Canela Cáceres, Juan, Torrelo Fernández, Antonio, Vera Casaño, Ángel, and Vicente Villa, María Asunción

Published
2016
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7. Consenso español sobre el hemangioma infantil

Author

Baselga Torres, Eulalia, Bernabéu Wittel, José, van Esso Arbolave, Diego L., Febrer Bosch, María Isabel, Carrasco Sanz, Ángel, de Lucas Laguna, Raúl, del Pozo Losada, Jesús, Hernández Martín, Ángela, Jiménez Montañés, Lorenzo, López Gutiérrez, Juan Carlos, Martín-Santiago, Ana, Redondo Bellón, Pedro, Ruíz-Canela Cáceres, Juan, Torrelo Fernández, Antonio, Vera Casaño, Ángel, and Vicente Villa, María Asunción

Published
2016
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8. Idiopathic calcinosis cutis in an infant: The importance of a wait‐and‐see approach.

Author

Stathopoulou, Anna, Noguera‐Morel, Lucero, Colmenero, Isabel, Sirvent‐Cerdá, Sara, Torrelo, Antonio, and Hernández‐Martín, Ángela

Subjects
CALCINOSIS, CALCINOSIS cutis, INFANTS
Abstract

A healthy 2‐year‐old girl presented with multiple asymptomatic subcutaneous nodules on both legs. Histologically demonstrated calcium deposition within the dermis and subcutaneous tissue consistent with calcinosis cutis. Laboratory abnormalities, underlying genetic conditions, and potential triggering factors were ruled out. The lesions resolved over an 18‐month period without treatment, emphasizing the importance of the wait‐and‐see approach in idiopathic cases of calcinosis cutis. [ABSTRACT FROM AUTHOR]

Published
2024
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9. 63 - Other Genodermatoses

Author

Bayliss, Susan J., Kumar, Monique G., Hernández-Martín, Ángela, Cohen, Bernard A., Martínez-Menchón, Teresa, Guillén-Navarro, Encarna, and Sybert, Virginia P.

Published
2025
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10. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Author

González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I., Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M., Quesada-Espinosa, Juan F., Martín, Miguel A., and Arteche-López, Ana

Subjects
GENE expression, RECESSIVE genes, GENETIC variation, PHENOTYPES, HUMAN phenotype, MOLECULAR diagnosis
Abstract

Hereditary palmoplantar keratodermas (PPKs) are a clinically and genetically heterogeneous group of disorders characterized by excessive epidermal thickening of palms and soles. Several genes have been associated with PPK including PERP, a gene encoding a crucial component of desmosomes that has been associated with dominant and recessive keratoderma. We report a patient with recessive erythrokeratoderma (EK) in which whole exome sequencing (WES) prioritized by human phenotype ontology (HPO) terms revealed the presence of the novel variant c.153C > A in the N-terminal region the PERP gene. This variant is predicted to have a nonsense effect, p.(Cys51Ter), resulting in a premature stop codon. We demonstrated a marked reduction in gene expression in cultured skin fibroblasts obtained from the patient. Despite the PERP gene is expressed at low levels in fibroblasts, our finding supports a loss-of-function (LoF) mechanism for the identified variant, as previously suggested in recessive EK. Our study underscores the importance of integrating HPO analysis when using WES for molecular genetic diagnosis in a clinical setting, as it facilitates continuous updates regarding gene–clinical feature associations. [ABSTRACT FROM AUTHOR]

Published
2023
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25. Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos

Author

Cantarín Extremera, Verónica, primary, Bernardino Cuesta, Beatriz, additional, Martín Villaescusa, Celia, additional, Melero Llorente, Javier, additional, Hernández Martín, Ángela, additional, Aparicio López, Cristina, additional, de Lucas Collantes, Carmen, additional, Tamariz-Martel Moreno, Amalia, additional, Duat Rodríguez, Anna, additional, and Ruiz-Falcó Rojas, María Luz, additional

Published
2021
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31. Propranolol for Infantile Hemangiomas

Author

Bagazgoitia, Lorea, Torrelo, Antonio, Gutiérrez, Juan Carlos López, Hernández-Martín, Ángela, Luna, Paula, Gutiérrez, Marta, Baño, Antonio, Tamariz, Amalia, Larralde, Margarita, Alvarez, Roser, Pardo, Nuria, and Baselga, Eulalia

Published
2011
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32. Erythema multiforme‐like lesions in children and COVID‐19

Author

Torrelo, Antonio, primary, Andina, David, additional, Santonja, Carlos, additional, Noguera‐Morel, Lucero, additional, Bascuas‐Arribas, Marta, additional, Gaitero‐Tristán, Jara, additional, Alonso‐Cadenas, José Antonio, additional, Escalada‐Pellitero, Silvia, additional, Hernández‐Martín, Ángela, additional, de la Torre‐Espi, Mercedes, additional, and Colmenero, Isabel, additional

Published
2020
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33. Chilblains in children in the setting of COVID‐19 pandemic

Author

Andina, David, primary, Noguera‐Morel, Lucero, additional, Bascuas‐Arribas, Marta, additional, Gaitero‐Tristán, Jara, additional, Alonso‐Cadenas, José Antonio, additional, Escalada‐Pellitero, Silvia, additional, Hernández‐Martín, Ángela, additional, de la Torre‐Espi, Mercedes, additional, Colmenero, Isabel, additional, and Torrelo, Antonio, additional

Published
2020
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34. The association between atopic dermatitis and serum 25‐hydroxyvitamin D in children: Influence of sun exposure, diet, and atopy features—A cross‐sectional study

Author

Sanmartin, Rosalía, primary, Pardos, Carlos, additional, Doste, Divina, additional, Aguilera, Jose, additional, Alijarde, Roberto, additional, Jesús Agón‐Banzo, Pedro, additional, García‐Malinis, Ana Julia, additional, Puzo, José, additional, Hernández‐Martín, Ángela, additional, and Gilaberte, Yolanda, additional

Published
2020
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36. Contributors

Author

Abdallah, M. Abdel Rahim, Abdallah, Mahmoud M.A., Abdallah, Marwa, Adler, Brandon L., Adusumilli, Nagasai C., Akaike, Tomoko, Alavi, Afsaneh, Amagai, Masayuki, Ambros-Rudolph, Priv.-Doz. Dr. Christina M., Rox Anderson, R., Antaya, Richard J., Ardigò, Marco, Argenyi, Zsolt B., Argenziano, Giuseppe, Avram, Marc R., Avram, Mathew M., Baker, Christopher, Barete, Stéphane, Barnhill, Raymond L., Baselga, Eulalia, Baugh, Erica G., Bayliss, Susan J., Beck, Lisa A., Bergqvist, Christina, Bernhard, Jeffrey D., Blanton, Lucas S., Bodemer, Apple, Bolognia, Jean L., Borradori, Luca, Dominik Braun, Andreas, Bravo, Francisco G., Brodland, David G., Brownell, Isaac, Bruckner, Anna L., Bruckner-Tuderman, Leena, Burkhart, Craig G., Burkhart, Craig N., Burrows, Nigel P., Callen, Jeffrey P., Camacho, Francisco M., Cameli Carley, Alexandra, Carruthers, Alastair, Carruthers, Jean, Cartee, Todd V., Cerroni, Lorenzo, Chan, Roy K.W., Wu Chang, Mary, Chio, Martin T.W., Chosidow, Olivier, Christiano, Angela M., Clayton, Anna S., Cockerell MD MBA JD, Clay J., Cohen, Bernard A., Cohen, David E., Coleman, Kyle M., Coleman, William P., Kari Connolly, M., Cooper, Susan M., Corey, Kristen, Cowen, Edward W., Cribier, Bernard, Darling, Thomas N., Davis, Mark D.P., de Berker, David, De Leo, Vincent A., Detmar, Michael, Diana Draelos, Zoe, Duncan, Karynne O., Elewski, Boni E., Elias, Peter M., Elston, Dirk M., Eming, Sabine A., España, Agustín, Fairley, Janet A., Feingold, Kenneth R., Fine, Jo-David, Flowers, Franklin P., Fox, Matthew, Fraitag, Sylvie, Franceschini, Chiara, Frank, Jorge, French, Lars E., Fried, Isabella, Frieden, Ilona J., Garzon, Maria C., Gasslitter, Irina, Gattorno, Marco, Gehlhausen, Jeffrey R., Ghoreschi, Kamran, Goldman, Mitchel P., Goldsmith, Charya B., Gollnick, Harald P., Grattan, Clive E.H., Groves, Richard W., Guillén-Navarro, Encarna, Haemel, Anna K., Hafner, Ariela, Haggstrom, Anita N., Hand, Jennifer L., Hannam, Sarah, Hausauer, Amelia K., Hay, Roderick J., Helfrich, Yolanda R., Hernández-Martín, Ángela, Hertl, Michael, Heymann, Warren R., High, Whitney A., Hirakawa, Satoshi, Hivnor, Chad M., Hohl, Prof. Dr. med. Daniel M., Hönigsmann, Herbert, Hötzenecker, Wolfram, Howard, Josie, Howard, Renee M., Hruza, George J., Hrynewycz, Katherine, Hsiao, Jennifer L., Huang, Jennifer T., Hughey, Lauren C., Hull, Christopher M., Marchiony Hunt, Katherine, Ingen-Housz-Oro, Saskia, Irvine, Alan D., Iversen, Lars, Mark Jackson, J., Jackson, Scott M., Jacobe, Heidi T., Jebain, Joseph, Jessri, Maryam, Jones, Derek H., Jorizzo, Joseph L., Kaddu, Steven, Kalia, Sunil, Kang, Sewon, Kelly, Kristen M., Kelly, Robert, Kempf, Werner, Kim, Brian, Kirnbauer, Reinhard, Kirsner, Robert S., Kittler, Nicole W., Knowles BSc Phm, Sandra R., Ko, Christine J., Kocatürk, Emek, Koch, Priv.-Doz. Dr. Lukas, Koch, Peter J., Koh, Hong Yi, Koo, John Y.M., Koss, Tamara, Koster, Maranke I., Kroshinsky, Daniela, G. Kumar, Monique, Kutzner, Heinz H., Kwong, Bernice Y., Lalor, Leah E.B., Lam, Charlene, Latheef, Faheem, Lee, Lela A., Lenormand, Cédric, Lenz, Petra, Lesher, Jack L., Jr., Leslie, Kieron S., Lev-Tov, Hadar, Liegl-Atzwanger, Bernadette, Lim, Henry W., Hua Liang Lim, Joel, Linos, Eleni, Lio, Peter, Lipsker, Dan, Loomis, Cynthia A., Lui, Harvey, Luo, Su, Maari, Catherine, Machan, Salma, Madigan, Lauren M., Maguiness, Sheilagh M., Maiberger, Mary P., Mancini, Anthony J., Marchitto, Mark, Marks Jr, James G., Martínez-Menchón, Teresa, Mascaró, José M., Jr., Trent Massengale, William, Massone, Cesare, Mauro, Theodora M., Mc Aleer, Maeve A., Mc Calmont, Timothy H., Carol Mc Connell, R., Mc Govern, Thomas W., Matthew Mc Larney, R., Mc Meniman, Erin K., Mc Murray, Stacy L., Mc Namara, Kristin K., Mc Niff, Jennifer M., Mellerio, Jemima E., Menon, Gopinathan K., Metze, Dieter, Meyer, Jason, Micheletti, Robert G., Milam, Emily C., Millard-Garcia, Ashley N., Miller, Jami L., Mizukawa, Yoshiko, Molho-Pessach, Vered, Molina-Ruiz, Ana María, Monheit, Gary D., Morrell, Dean S., Mowad, Christen M., Mahindra Nayyar, Priya, Nelson, Amanda M., Nghiem, Paul, Ní Raghallaigh, Síona, Nixon AM, Rosemary L., Noguera-Morel, Lucero, North, Paula E., Nunley, Julia R., Nyström, Alexander, Teresa Ochoa, Maria, Oji, Vinzenz, Olbricht, Suzanne, Orlow, Seth J., Ortega-Loayza, Alex G., Ortonne, Jean-Paul, Oschmann, Anna, Paller, Amy S., Pasquali, Paola, Passeron, Thierry, Patterson, James W., P. Pereira, Manuel, Pfisterer, Karin, Piette, Warren W., Pincus, Laura B., Maria Piraccini, Bianca, Pittelkow, Mark R., Plewig, Gerd, Pollack, Sheldon V., Powell, Julie, Prausnitz, Mark R., Quist, Jennifer E., Quist, Sven R., Qureshi, Abrar A., Raimer, Ben G., Raimer, Sharon S., Raimer-Goodman, Lauren, Ramachandran, Sarika, Ramos-e-Silva, Marcia, Rapini, Ronald P., Ratner, Désirée, Reboli, Annette C., Reider, Norbert, Reizner, George T., Requena, Celia, Requena, Luis, Reynolds, Rachel, Cristina Ribeiro de Castro, Maria, Rich, Phoebe, Richard, Gabriele, Richards, Shawn W., Richert, Bertrand, Ringpfeil, Franziska, Röcken, Martin, Rogers MD FAAD, Nicole E., Rohrer, Thomas E., Rongioletti, Franco, Rosen, Cheryl F., Rosenbach, Misha A., Rudnicka, Lidia, Rünger, Thomas M., Saggini, Andrea, Saini, Sarbjit S., Sakamoto, Fernanda H., Saurat, Jean-Hilaire, Schadt, Courtney R., Ann Mc Leish, Stephanie, Schaffer, Julie V., Schaller, Martin, Schmuth, Matthias, Schwarz, Thomas, Schwarzenberger, Kathryn, Seneschal, Julien, Shani-Adir, Ayelet, Shapiro, Lori E., Shear, Neil H., Shi, Vivian Y., Shields, Bridget E., Shiohara, Tetsuo, Sidbury, Robert, Siller, Alfredo, Jr., Sivamani, Raja, Smith, Gideon P., Smith, Michael L., Smoller, Bruce R., Sommer, Lacy L., Sontheimer, Richard D., Sorg, Olivier, Peter Soyer, H., Sprecher, Eli, Ständer, Sonja, Stary, Angelika, Stary, Georg, Steadmon, Matthew, Stefanato, Catherine M., Seabury Stone, Mary, Stratman, Erik J., Süßmuth, Kira, Swetter, Susan M., Sybert, Virginia P., Hoon Tan, Suat, Tanzi, Elizabeth, Liang Tey, Hong, Tharp, Michael D., Tomasini, Carlo F., Torrelo, Antonio, Tosti, Antonella, Travelute, Christie R., Treister, Nathaniel, Trindade de Almeida, Ada Regina, Tsao, Hensin, Tschandl, Philipp, Tüting, Thomas, Tyring, Stephen K., Uitto, Jouni, van de Kerkhof, Peter C.M., Vandergriff, Travis W., Veness, Michael J., Verhave, Brendon, Vidimos, Allison T., Virós, Amaya, Ann Vleugels, Ruth, Walker, David H., Wanat, Karolyn A., Wang, Etienne C.E., Wang, Jennifer Y., Watsky, Kalman L., Weber, Benedikt, Weiss, Robert A., Weisshaar, Elke, Weninger, Wolfgang, Werth, Victoria P., Wesley, Naissan O., Weston, Gillian K., Whittaker, Sean, Wiesner, Thomas, Mark Wilkinson, S., Willemze, Rein, Winfield, Harry L., Wolf, Ingrid H., Wolf, Peter, Wolverton, Stephen E., Wood, Gary S., Yancey, Kim B., Yang, Eric J., Yang, Yul W., Yosipovitch, Gil, Rasar Young, Melissa, Zaba, Lisa C., Zachary, Christopher B., Zaenglein, Andrea L., Zalaudek, Iris, and Zone, John J.

Published
2025
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38. 63 - Other Genodermatoses

Author

Bayliss, Susan J., Kumar, Monique G., Hernández-Martín, Ángela, Burton, Barbara K., Cohen, Bernard A., Itin, Peter H., Bree, Alanna F., and Sybert, Virginia P.

Published
2018
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39. Intralesional corticosteroid injection for the treatment of hidradenitis suppurativa: a multicenter retrospective clinical study.

Author

García-Martínez, Francisco Javier, Vilarrasa Rull, Eva, Salgado-Boquete, Laura, Martorell, Antonio, Pascual, Jose Carlos, Hernández-Martín, Ángela, Silvente, Catiana, Ciudad-Blanco, Cristina, Andrés Esteban, Eva, and Alfageme-Roldán, F.

Subjects
SCIENTIFIC literature, INJECTIONS, CORTICOSTEROIDS, RETROSPECTIVE studies, THERAPEUTICS
Abstract

Hidradenitis suppurativa (HS) is a chronic inflammatory disease of the follicular unit characterized by recurrent, painful, skin lesions including inflammatory nodules, abscesses, tunnels, and mutilating scarring. Intralesional corticosteroids injection (ICI) for HS has received little attention in the scientific literature. We evaluate the clinical response of ICI in acute and chronic HS lesions and aim to identify new applications of ultrasound-assisted procedures in HS management. An observational, retrospective, multicenter study of HS patients treated with ICI was conducted from January 1 to August 1, 2015. We collected 98 HS patients. A total of 135 individual lesions were infiltrated, including non-inflammatory nodules, inflammatory nodules abscesses and fistulous tracts. Complete response was reached in 95 lesions (70.37%), 34 showed partial response (25.19%) and 6 (4.44%) were non-response. A total of 105 individual lesions underwent sonographic scan before ICI. Clinical experience supported the use of ICI for individual lesions. Our results showed that ICI is a useful treatment to control in acute and recalcitrant HS lesions. Response rates improve significantly if lesions are previously evaluated with HFUS. [ABSTRACT FROM AUTHOR]

Published
2021
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41. Intralesional corticosteroid injection for the treatment of hidradenitis suppurativa: a multicenter retrospective clinical study

Author

García-Martínez, Francisco Javier, primary, Vilarrasa Rull, Eva, additional, Salgado-Boquete, Laura, additional, Martorell, Antonio, additional, Pascual, Jose Carlos, additional, Hernández-Martín, Ángela, additional, Silvente, Catiana, additional, Ciudad-Blanco, Cristina, additional, Andrés Esteban, Eva, additional, and Alfageme-Roldán, F., additional

Published
2019
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43. A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

Author

Escámez María-José, García Marta, Sánchez-Jimeno Carolina, Cuadrado-Corrales Natividad, Illera Nuria, Hernández-Martín Ángela, Trujillo-Tiebas María-José, Ayuso Carmen, and Del Rio Marcela

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma. The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation. Methods Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the COL7A1 gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin. Results Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation. Conclusion Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (CCGCTCAAA_6527insC), thus suggesting the presence of a common ancestor.

Published
2010
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45. Interacciones entre los virus de la hepatitis B y delta en diferentes situaciones clínicas. Identificación de marcadores de replicación de virus delta en pacientes con evidencia de infección pasada por el virus de la hepatitis B

Author

Hernández Martín, Ángela, García-Samaniego Rey, Javier, and Madejón Seiz, Antonio

Subjects
Infecciones, Inmunología, Hepatitis B
Abstract

Tesis inédita presentada en la Universidad Europea de Madrid. Facultad de Salud y Ciencias Biomédicas. Programa de Doctorado en Biomedicina y Ciencias de la Salud La infección por el virus de la hepatitis delta (VHD) se asocia a formas muy severas de daño hepático, por lo que la identificación de pacientes con infección por VHD no diagnosticada es clínicamente relevante. Siendo el antígeno de superficie del virus B (AgHBs) el primer marcador de diagnóstico de infección por VHD, se ha planteado como objetivo de la tesis determinar si los pacientes con hepatitis B oculta (AgHBs negativo/VHB-ADN positivo) pueden soportar una infección activa por VHD, y en caso de que así sea, determinar los patrones de replicación de ambos virus, comparándolos con los observados en pacientes con hepatitis crónica delta convencional. Se han incluido dos grupos de pacientes: Grupo problema (n=129). Pacientes con alto riesgo de infección B oculta (evidencia de infección pasada por VHB y marcadores de infección por VIH y/o VHC); Grupo control (n=117). Pacientes con hepatitis crónica delta o hepatitis crónica B. Nuestros resultados demuestran la existencia de hepatitis B oculta en 36 (28%) pacientes, siendo mayor la prevalencia en pacientes con VHC que en pacientes con VIH (32% y 21% respectivamente). La negatividad al AgHBs se correlacionó en 10 pacientes con mutaciones en la región codificante de AgHBs, que interferían en el proceso de detección de este marcador. En 14 casos (11%) se detectaron marcadores de infección por VHD con diferentes patrones. También se confirmó una inhibición acusada de la replicación del VHB mediada por VHD tanto en el grupo control como en el grupo problema, en el que únicamente 1/14 pacientes con marcadores de VHD fue diagnosticado de HBO. En conclusión, un porcentaje significativo de los pacientes con HBO pueden soportar una infección activa por VHD. Por este motivo, la detección de anti-HD y VHD-ARN en pacientes VHC y VIH, respectivamente, y con patrones de infección pasada por VHB podría estar indicada en el diagnóstico de la infección viral. (Resumen Teseo) UEM

Published
2017

46. Actualización del tratamiento de las rasopatías

Author

Duat-Rodríguez, Anna, Hernández-Martín, Ángela, and UAM. Departamento de Pediatría

Subjects
Vía RAS/MAPK, Medicina, mTOR, Rasopatías, Tratamiento, Inhibidor de MEK, Neurofibroma plexiforme
Abstract

Introducción. El término ‘rasopatías’ agrupa una serie de enfermedades que presentan mutaciones en genes que codifican las proteínas de la vía RAS/MAPK. Estas enfermedades incluyen la neurofibromatosis de tipo 1, el síndrome de Noonan, el síndrome de Legius, el síndrome LEOPARD, el síndrome de Costello y el síndrome cardiofaciocutáneo. La afectación de la vía RAS/MAPK no sólo aumenta la predisposición a desarrollar tumores, sino que también determina la presencia de anomalías fenotípicas y alteraciones en los procesos de aprendizaje. Objetivo. Revisar el papel del uso de estrategias terapéuticas con mecanismos de acción selectivo en las rasopatías. Desarrollo. El hecho de que la vía RAS participe en un tercio de las neoplasias ha motivado el desarrollo y el estudio de distintos fármacos a este nivel. Algunos de estos fármacos han sido probados en las rasopatías, principalmente en la neurofibromatosis de tipo 1. Analizamos el uso de distintos tratamientos antidiana: fármacos que actúan en los receptores de membrana, como los inhibidores de la tirosincinasa, en la vía mTOR o los inhibidores de MEK. Existe un potencial beneficio de estos últimos en estudios recientes realizados en distintas rasopatías. Conclusiones. Actualmente, gracias a los resultados de los primeros trabajos desarrollados con inhibidor de MEK basados principalmente en modelos animales, se están realizando múltiples ensayos clínicos prometedores Introduction. The term ‘RASopathies’ covers a series of diseases that present mutations in the genes that code for the proteins of the RAS/MAPK pathway. These diseases include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. Involvement of the RAS/MAPK pathway not only increases predisposition to develop tumours, but also determines the presence of phenotypic anomalies and alterations in learning processes. Aim. To review the use of therapeutic strategies with mechanisms that have a selective action on RASopathies. Development. The fact that the RAS pathway is involved in a third of all neoplasms has led to the development and study of different drugs at this level. Some of these pharmaceutical have agents been tested in RASopathies, mainly in neurofibromatosis type 1. Here we analyse the use of different antitarget treatments: drugs that act on the membrane receptors, such as tyrosine kinase inhibitors, in the mTOR pathway or MEK inhibitors. These latter have shown potential benefits in recent studies conducted on different RASopathies. Conclusions. Today, thanks to the results from the first studies conducted with MEK inhibitor based mainly on animal models, a number of promising clinical trials are being carried out

Published
2017

47. Body mass index and serum lipid profile: Association with atopic dermatitis in a paediatric population.

Author

Agón‐Banzo, Pedro Jesús, Sanmartin, Rosalía, García‐Malinis, Ana Julia, Hernández‐Martín, Ángela, Puzo, José, Doste, Divina, Pardos, Carlos, and Gilaberte, Yolanda

Subjects
ATOPIC dermatitis, BODY mass index, BLOOD lipids, HIGH density lipoproteins, BODY weight
Abstract

Background/Objectives: The association between atopic dermatitis, body weight and serum lipid levels is not well known, and very few studies have examined this relationship in children. Methods: Children (n = 239) under 14 years old participated in this prospective cross‐sectional study. The following variables were recorded: age, gender, weight, height, atopic dermatitis severity, serum levels of total cholesterol, low‐density lipoprotein cholesterol, high‐density lipoprotein cholesterol and triglycerides. Results: Mean body mass index was slightly higher in atopic dermatitis patients than healthy controls and significantly higher in atopic dermatitis patients aged 0–2 years (atopic dermatitis, 16.7 ± 4.6; controls, 15.7 ± 1.3; P = 0.04) and 12–14 years (atopic dermatitis, 24.9 ± 5.3; controls, 20.6 ± 3.4; P = 0.03). Among atopic dermatitis patients, body mass index was significantly higher in those with severe atopic dermatitis in the 9–12 (P = 0.03) and 12–14 (P = 0.01) years groups. Mean serum lipid levels were higher in patients with severe atopic dermatitis than in the atopic dermatitis group as a whole. These differences reached statistical significance for total cholesterol (P = 0.04) and triglycerides (P = 0.02). Conclusion: The prevalence of overweight, obesity and dyslipidemia is greater in children with atopic dermatitis than in age‐matched healthy counterparts. [ABSTRACT FROM AUTHOR]

Published
2020
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