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2. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome

Author

Boyden, Lynn M, Kam, Chen Y, Hernández-Martín, Angela, Zhou, Jing, Craiglow, Brittany G, Sidbury, Robert, Mathes, Erin F, Maguiness, Sheilagh M, Crumrine, Debra A, Williams, Mary L, Hu, Ronghua, Lifton, Richard P, Elias, Peter M, Green, Kathleen J, and Choate, Keith A

Subjects
Genetics, Pediatric, Biotechnology, Heart Disease, Congenital Structural Anomalies, Rare Diseases, Clinical Research, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Skin, Amino Acid Sequence, Cardiomyopathies, Child, Child, Preschool, Connexin 43, Desmoplakins, Desmosomes, Female, Humans, Infant, Male, Molecular Sequence Data, Mutation, Missense, Myocardium, Protein Transport, Sequence Alignment, Skin Diseases, Genetic, Syndrome, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Disorders of keratinization (DOK) show marked genotypic and phenotypic heterogeneity. In most cases, disease is primarily cutaneous, and further clinical evaluation is therefore rarely pursued. We have identified subjects with a novel DOK featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. We show that de novo missense mutations clustered tightly within a single spectrin repeat of DSP cause this novel cardio-cutaneous disorder, which we term erythrokeratodermia-cardiomyopathy (EKC) syndrome. We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects. DSP encodes desmoplakin, a primary component of desmosomes, intercellular adhesion junctions most abundant in the epidermis and heart. Though mutations in DSP are known to cause other disorders, our cohort features the unique clinical finding of severe whole-body erythrokeratodermia, with distinct effects on localization of desmosomal proteins and connexin 43. These findings add a severe, previously undescribed syndrome featuring erythrokeratodermia and cardiomyopathy to the spectrum of disease caused by mutation in DSP, and identify a specific region of the protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin.

Published
2016

17. 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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30. Dominantde novo DSPmutations cause erythrokeratodermia-cardiomyopathy syndrome

Author

Boyden, Lynn M., primary, Kam, Chen Y., additional, Hernández-Martín, Angela, additional, Zhou, Jing, additional, Craiglow, Brittany G., additional, Sidbury, Robert, additional, Mathes, Erin F., additional, Maguiness, Sheilagh M., additional, Crumrine, Debra A., additional, Williams, Mary L., additional, Hu, Ronghua, additional, Lifton, Richard P., additional, Elias, Peter M., additional, Green, Kathleen J., additional, and Choate, Keith A., additional

Published
2015
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31. List of Contributors

Author

Antaya, Richard J., Baselga, Eulalia, Bedwell, Carol, Bellet, Jane Sanders, Bruckner, Anna L., Carder, K. Robin, Cathcart, Shelley D., Chamlin, Sarah L., Chan, Yuin-Chew, Cordoro, Kelly M., Cohen, Bernard A., Cork, Michael J., Danby, Simon G., Diaz, Lucia, Drolet, Beth Ann, Eichenfield, Lawrence F., Fisher, Brian T., Foley, Catherine C., Frieden, Ilona J., Friedlander, Sheila Fallon, Galbraith, Sheila S., Garzon, Maria C., Haggstrom, Anita N., Hand, Jennifer L., Hebert, Adelaide A., Hernández-Martín, Angela, Hoath, Steven B., Honig, Paul J., Howard, Renee M., Hunt, Raegan D., Irvine, Alan D., Jensen, Cynthia B., Kim, Ho Jin, Krafchik, Bernice R., Krol, Alfons L., Lam, Joseph M., Lawley, Leslie P., Levy, Moise L., Lucky, Anne W., Maguiness, Sheilagh M., Mancini, Anthony J., Marghoob, Ashfaq A., Martin, Kari L., Mathes, Erin F., Mauro, Theodora, Morrell, Dean S., O'Regan, Grainne M., Paller, Amy S., Prendiville, Julie S., Price, Harper N., Prose, Neil S., Rubin, Adam I., Schulman, Joshua, Siegel, Dawn H., Silverman, Robert A., Tay, Yong-Kwang, Tom, Wynnis L., Torrelo, Antonio, Treat, James, Williams, Mary L., Wong, Li-Chuen, Yan, Albert C., and Zaenglein, Andrea L.

Published
2015
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34. Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper‐IgE Syndrome: A Case Series and Literature Review.

Author

Dick, Jenna K., Boull, Christina, Pozos, Tamara C., and Maguiness, Sheilagh M.

Subjects
*ATOPIC dermatitis, *GENETIC disorders, *DISEASE relapse, *LUNG infections, *CHILD patients
Abstract

ABSTRACT Hyperimmunoglobulin E syndrome (HIES) is a group of rare genetic disorders characterized by severe atopic dermatitis and recurrent skin and pulmonary infections. The efficacy of dupilumab in pediatric patients with HIES‐associated severe atopic dermatitis is relatively understudied. Here, we present a series of three children with HIES, two with AD‐HIES caused by STAT3 mutations, and one with AR‐HIES caused by biallelic mutations in ZNF341. In all cases, dupilumab treatment led to sustained clearance of severe atopic dermatitis over multiple years, as well as improvements in systemic symptoms of HIES. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Imiquimod-induced subacute cutaneous lupus erythematosus-like changes.

Author

Maguiness SM, Farsani TT, Zedek DC, and Berger TG

Subjects
Female, Humans, Imiquimod, Lupus Erythematosus, Cutaneous pathology, Middle Aged, Aminoquinolines adverse effects, Immunologic Factors adverse effects, Lupus Erythematosus, Cutaneous chemically induced
Abstract

Imiquimod is a topical immunomodulator used to treat genital warts and cutaneous malignancies that exerts its effects via induction of proinflammatory cytokines through activation of toll-like receptor (TLR) 7. Although subacute cutaneous lupus erythematosus (SCLE) has been reported in association with multiple systemic medications, SCLE in patients treated with topical agents has not been widely reported. We report the case of a 50-year-old woman with local induction of lesions that clinically and histologically resembled SCLE following treatment with topical imiquimod.

Published
2015

38. Propranolol in the management of airway infantile hemangiomas.

Author

Rosbe KW, Suh KY, Meyer AK, Maguiness SM, and Frieden IJ

Subjects
Airway Obstruction congenital, Airway Obstruction therapy, Combined Modality Therapy, Drug Therapy, Combination, Female, Follow-Up Studies, Hemangioma congenital, Hemangioma diagnosis, Hemangioma surgery, Humans, Infant, Infant, Newborn, Laryngeal Neoplasms congenital, Laryngeal Neoplasms diagnosis, Laryngeal Neoplasms surgery, Laryngoscopy, Male, Risk Assessment, Sampling Studies, Skin Neoplasms congenital, Skin Neoplasms diagnosis, Skin Neoplasms therapy, Tracheostomy methods, Treatment Outcome, Adrenal Cortex Hormones therapeutic use, Glottis pathology, Hemangioma drug therapy, Laryngeal Neoplasms drug therapy, Propranolol therapeutic use
Abstract

Objective: To report our experience with propranolol in managing airway infantile hemangiomas., Design: Case series of 3 consecutive patients who had extensive, symptomatic airway infantile hemangiomas treated with propranolol., Setting: Tertiary academic medical center., Patients: Three infants with facial cutaneous hemangiomas who developed stridor that progressed to respiratory distress, which according to laryngoscopic examination results was confirmed to be caused by extensive subglottic hemangiomas. These patients underwent follow-up during their course of therapy, ranging from 3 weeks to 15 months., Results: Patient 1 failed to respond to systemic corticosteroids, laser ablation, and intravenous vincristine for her airway hemangioma and had to undergo tracheotomy. She was given propranolol after her tracheotomy and had a significant reduction in her subglottic airway obstruction. Patient 2 developed progressive stridor secondary to airway hemangioma at age 6 1/2 months following tapering of systemic corticosteroids prescribed for her periorbital hemangioma. Systemic corticosteroids were restarted with the addition of propranolol. The stridor improved within 24 hours, and she was able to be weaned off corticosteroids. Patient 3 was also treated with initial combined therapy of systemic corticosteroids and propranolol. He had a significant reduction in stridor within 24 hours and was weaned off corticosteroids., Conclusions: Our 3 patients had severe respiratory symptoms related to their airway infantile hemangiomas. In the first patient, propranolol was used when other treatments were ineffective or associated with intolerable adverse effects. In the second and third patients, propranolol was part of a dual regimen that resulted in rapid resolution of airway symptoms and allowed for quicker weaning of corticosteroids.

Published
2010
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