Guenova, Emmanuella
Mayo Clinic
Johannes Kepler University of Linz
Citations 2
Darier disease—A review highlighting new insights from the Darier Disease International Task Force
Labbouz, Sofia , Xiong, Grace , Murrell, Dedee Frances, Mueller, Simon M. , Mohandesi, Nessa Aghazadeh, Aldhaheri, Ahmed Salem, Asayag, Nissim, Baselga, Eulalia, Nadler, Chen , Chu, Chia‐Yu , Edminister, John R. , Guenova, Emmanuella, Gönülal, Melis , Gostynski, Antoni, Gupta, Lalit Kumar, Mazereeuw‐Hautier, Juliette, Hoetzenecker, Wolfram , Itin, Peter, Jankowski, Marek , Medvecz, Márta, Moosbrugger‐Martinz, Verena , Paller, Amy S., Plázár, Dóra , Queiróz, Amadeu José Rodrigues , Riera‐Monroig, Josep , Rosa, Ralph, Schmuth, Matthias, Freire, Maella Severino , Shabat, Itzhak, Shapiro, Jonathan , Soto‐García, Diego , Stratigos, Alexander J., Tadini, Gianluca Abel, Takeichi, Takuya , Verma, Kaushal K. , Wikström, Jakob D. , Ziv, Michael , Dodiuk‐Gad, Roni Pircha, Xiong, Grace , Mueller, Simon M , Ezzedine, Khaled , Choate, Keith , Gostynski, Antoni , Gupta, Ankan , Hoetzenecker, Wolfram , Jankowski, Marek , Kubo, Akiharu , Lee, Haur Yueh , Lehman, Julia Scott, Mellerio, Jemima E , Queiróz, Amadeu José Rodrigues , Freire, Maella Severino , Shapiro, Jonathan , Soto-García, Diego , Takeichi, Takuya , Wikström, Jakob D , Zink, Alexander , Navarini, Alexander , Hovnanian, Alain , Murrell, D F , Aghazadeh, Nessa , Aldhaheri, Ahmed S., Guenova, Emmanuella , Gönülal, Melis , Mazereeuw‐Hautier, J. , Lehman, Julia S. , Lepekhova, Anfisa A. , Medvecz, Márta, Paller, Amy S. , Schmuth, Matthias , Simpson, Cory L. , Tadini, Gianluca , Wikström, Jakob D. , Dodiuk‐Gad, Roni P.
Journal of the European Academy of Dermatology and Venereology | June 1, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Darier disease (DD) is a rare autosomal dominant genodermatosis. This comprehensive review, developed by the Darier Disease International Task Force (DDITF), consolidates current knowledge on the genetic basis, molecular pathophysiology, clinical presentation, diagnosis and management of DD, offering a global perspective that unites shared expertise. The disease arises from pathogenic variants in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca 2+ ‐ATPase isoform 2 (SERCA2), leading to disrupted calcium homeostasis and impaired desmosomal integrity. Clinically, DD is classified based on lesion type (classic vs. non‐classic) and is often accompanied by significant extracutaneous manifestations. Management remains challenging and requires a multifaceted approach, including topical therapies, systemic retinoids and lifestyle modifications. Emerging treatments that target the underlying molecular mechanisms offer promise for improved outcomes. This review aims to provide an updated reference and practical guidance for clinicians involved in the care and study of DD.
Primary cutaneous lymphoma: recommendations for clinical trial design and staging update from the ISCL, USCLC, and EORTC
Olsen, Elise A. , Whittaker, Sean , Willemze, Rein , Pinter‐Brown, Lauren , Foss, Francine M. , Schwartz, Lawrence , Guitart, Joan , Zic, John A., Wood, Gary S. , Ai, Wei , Gru, Alejandro A. , Guenova, Emmanuella , Hodak, Emmilia , Hoppe, Richard T. , Lechowicz, Mary Jo , Ortiz‐Romero, Pablo L. , Papadavid, Evangelia , Pittelkow, Mark R. , Prince, H. Miles , Sanches, José Antônio , Sugaya, Makoto , Vermeer, Maarten H. , Knobler, Robert , Stadler, Rudolf , Scarisbrick, Julia , Foss, Francine , Kim, Youn H , Gru, Alejandro , Guenova, Emmanuella , Ortiz-Romero, Pablo , Prince, H Miles , Sanches, Jose Antonio , Sugaya, Makoto , Vermeer, Maarten , Zain, Jasmine , Knobler, Robert , Stadler, Rudolf , Scarisbrick, Julia , Hoppe, Richard T , Geskin, Larisa J. , Horwitz, Sarah McCue , Duvic, Madeleine , Ai, Wei, Girardi, Michael , Kempf, Werner , Kim, Ellen , Quaglino, Pietro , Bagot, Martine
Blood | November 11, 2021 | Volume: 140 | Issue: 5 | Pages: 419-437
Abstract The number of patients with primary cutaneous lymphoma (PCL) relative to other non-Hodgkin lymphomas (NHLs) is small and the number of subtypes large. Although clinical trial guidelines have been published for mycosis fungoides/Sézary syndrome, the most common type of PCL, none exist for the other PCLs. In addition, staging of the PCLs has been evolving based on new data on potential prognostic factors, diagnosis, and assessment methods of both skin and extracutaneous disease and a desire to align the latter with the Lugano guidelines for all NHLs. The International Society for Cutaneous Lymphomas (ISCL), the United States Cutaneous LymphomaConsortium (USCLC), and the Cutaneous Lymphoma Task Force of the European Organization for the Research and Treatment of Cancer (EORTC) now propose updated staging and guidelines for the study design, assessment, endpoints, and response criteria in clinical trials for all the PCLs in alignment with that of the Lugano guidelines. These recommendations provide standardized methodology that should facilitate planning and regulatory approval of new treatments for these lymphomas worldwide, encourage cooperative investigator-initiated trials, and help to assess the comparative efficacy of therapeutic agents tested across sites and studies.