Article
Dermatology
Fuying Chen, Ruoqu Wei, Dan Deng, Xue Zhang, Yu Cao, Chaolan Pan, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Ming Zeng, Linting Huang, Yan Gu, Zhirong Yao, Ming Li
Summary: This study analyzed the genotype-phenotype correlation in Chinese individuals with EB and identified rare phenotypes and complex genotypes.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Review
Dermatology
M. Papanikolaou, A. Onoufriadis, J. E. Mellerio, L. A. Nattkemper, G. Yosipovitch, M. Steinhoff, J. A. McGrath
Summary: Epidermolysis bullosa (EB) is a group of inherited skin disorders caused by mutations in genes encoding proteins of the dermoepidermal junction. Itch is a common symptom in EB and may be due to skin inflammation, wound healing cascades, and dysregulated activation of sensory nerve endings. Understanding these mechanisms is crucial for optimizing treatments and improving quality of life for patients with EB.
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Article
Dermatology
Yao Wang, Alrun Hotz, Philipp R. Esser, Judith Fischer, Cristina Has
Summary: ITGB4 mutations usually result in junctional epidermolysis bullosa (JEB) with pyloric atresia and other symptoms, but we reported a rare subtype of late-onset, nonsyndromic JEB without extracutaneous manifestations. Our study revealed the pathogenic mechanism of this JEB subtype.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Dermatology
Hidenobu Kaneyasu, Kazumasa Takahashi, Naoki Ohta, Seigo Okada, Sasagu Kimura, Shuichiro Yasuno, Susumu Murata, Shunsaku Katsura, Naoyuki Yamada, Koji Shiraishi, Junko Tsuda, Shunsuke Miyai, Hiroki Kurahashi, Shunji Hasegawa, Yutaka Shimomura
Summary: This study reports a case of EB with pyloric atresia and identifies two novel compound heterozygous mutations in the plectin gene. The study highlights the crucial role of plectin in various organs and provides valuable information about the phenotype associated with mutations in the PLEC gene.
JOURNAL OF DERMATOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Nadezhda A. Evtushenko, Arkadii K. Beilin, Anastasiya Kosykh, Ekaterina A. Vorotelyak, Nadya G. Gurskaya
Summary: Epidermolysis bullosa simplex (EBS) is a group of genetic diseases caused by mutations in keratins, leading to changes in cellular pathology such as fragility of the intermediate filament network and basal layer cytolysis. Mutations in keratins can affect cellular signaling, cause abnormal cell migration, and trigger inflammatory responses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Cameron Meyer-Mueller, Mark J. Osborn, Jakub Tolar, Christina Boull, Christen L. Ebens
Summary: Epidermolysis bullosa (EB) is a group of genetic blistering diseases characterized by fragile skin. A recent study suggests that revertant mosaicism (RM), a phenomenon that corrects disease-causing mutations, could be a potential therapy for EB. RM cells provide a powerful autologous platform for therapy, avoiding the risks associated with gene therapy/editing. However, more research is needed to ensure the genomic integrity and long-term functionality of RM-derived cells.
Article
Genetics & Heredity
Raghad Alharthi, Muhannad A. Alnahdi, Ahad Alharthi, Seba Almutairi, Sultan Al-Khenaizan, Mohammed A. AlBalwi
Summary: This study established the genetic profile of EB in Saudi Arabia and identified 14 novel mutations. The results showed that DEB is the most frequent type, with the majority of patients having homozygous mutations and some patients having a consanguinity history. It is recommended to implement a nationwide EB program to further understand the disease.
FRONTIERS IN GENETICS
(2022)
Letter
Dermatology
Mathilde C. S. C. Vermeer, Mohammad Al-Shinnag, Herman H. W. Sillje, Antonio Esquivel Gaytan, Dedee F. Murrell, Julie McGaughran, Wei Melbourne, Timothy Cowan, Peter C. van den Akker, Karin Y. van Spaendonck-Zwarts, Peter van Der Meer, Maria C. Bolling
Summary: This study suggests that gain-of-function variants in KLHL24 causing EBS and DCM may not only originate in the start-codon, and any nonsense-inducing variant affecting nucleotides c.4_84 is likely to have the same effect on protein level and result in a similar potential lethal phenotype.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Multidisciplinary Sciences
Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg
Summary: The study demonstrates the possibility of genetic modification of EB symptoms using the Lamc2jeb mouse model and identifies Col17a1 and other genetic loci as modifiers. Furthermore, CRISPR/Cas9 technology was used to alter a specific isoform of the dystonin gene in mice and validated a genetic difference as a modifier of EB. The study also reveals the potential of using mice with pinnae removed as a test bed for studying EB disease and treatment.
Article
Dermatology
Shuk Ching Chong, Kam Lun Hon, Liz Y. P. Yuen, Paul Cheung Lung Choi, W. G. Gigi Ng, Tor W. Chiu
Summary: EB is a group of congenital blistering diseases with different categories, including EBS, JEB, and DEB. In Hong Kong, two neonates of consanguineous Pakistani parents had the EB-PA variant, one with a 4 kb homozygous deletion of the ITGB4 gene. Genetic analysis and histopathological classification are crucial for prognosis and counseling. JEB and EB-PA are linked to consanguinity and mortality in infancy, while autosomal dominant DEB has a favorable prognosis and autosomal recessive DEB is more severe with neonatal onset and recurrent blistering.
JOURNAL OF DERMATOLOGICAL TREATMENT
(2021)
Article
Dermatology
Gabriela Petrof, Maria Papanikolaou, Anna E. Martinez, Jemima E. Mellerio, John A. McGrath, Ajoy Bardhan, Natasha Harper, Adrian Heagerty, Malobi Ogboli, Christopher Chiswell, Celia Moss
Summary: This study provides accurate epidemiological data for EB in England and Wales, showing a decrease in the birth incidence of severe types of EB, possibly due to the uptake of genetic counseling advice, while the decrease in milder types of EB may be related to delayed presentation. There is a slight trend towards longer survival in babies with JEB-S, which may be attributed to improved multidisciplinary care.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Multidisciplinary Sciences
Divya Gupta, Charitha Jayashankar, Manoj Srinivas, Gurudatta Baraka Vishwanathan, Kristipati Raghavendra Reddy, Asha Kubba, Meenakshi Batrani, Ravi Hiremagalore
Summary: This study characterized the spectrum of COL7A1 variations in Indian DEB patients and established a genotype-phenotype correlation. The findings have direct implications on the management of DEB patients.
Article
Dermatology
D. Darbord, G. Hickman, N. Pironon, C. Barbieux, M. Bonnet-des-Claustres, M. Titeux, S. Miskinyte, F. Cordoliani, M. D. Vignon-Pennamen, R. Amode, A. Hovnanian, E. Bourrat
Summary: The study confirmed the stereotyped presentation of DEB-Pr with significant intra-familial variability in disease expression. Mast cell infiltration, elevated IgE levels, and increased Th2 subset without atopy strongly support a role of Th2-mediated immunity in DEB-Pr.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Dermatology
Cristina Has, Moritz Hess, Waltraud Anemueller, Ulrike Blume-Peytavi, Steffen Emmert, Regina Foelster-Holst, Jorge Frank, Kathrin Giehl, Claudia Guenther, Johanna Hammersen, Kathrin Hillmann, Bettina Hoeflein, Peter H. Hoeger, Alrun Hotz, Thuy Anh Mai, Vinzenz Oji, Holm Schneider, Kira Suessmuth, Iliana Tantcheva-Poor, Frederieke Thielking, Birgit Zirn, Judith Fischer, Antonia Reimer-Taschenbrecker
Summary: This study reports the epidemiological data of EB in Germany, showing the incidence and prevalence of different types of EB. The findings are important for informing national policies, drug development, and improving the quality of life for EB patients.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Letter
Dermatology
Manrup K. Hunjan, Ajoy Bardhan, Louise Zuzarte, Dario Leonardo Balacco, Natasha Harper, Adrian Heagerty
Summary: Our study shows that severity scores do not correlate well with the impact of localized EBS on quality of life. There is a lack of research examining the relationship between disease severity and patient-reported outcome measures in EB. Current scoring systems fail to account for the palmoplantar blistering and keratoderma which significantly affect the morbidity in EBS patients.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2023)
Article
Dermatology
Larissa E. van Eijk, Marjolein J. Koldijk, Marloes S. van Kester, Arjan Diepstra, Gilles F. H. Diercks
Summary: This is a rare case of EBV-positive T-cell lymphoma presenting in the skin of a 32-year-old woman using adalimumab for neurosarcoidosis.
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2022)
Letter
Dermatology
Xiaoyan Wang, Gilles Diercks, Wietske M. Lambers, Johanna Westra, Hendrika Bootsma, Frans G. M. Kroese, Karina de Leeuw, Sarah Pringle
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Surgery
Maroesjka Spiekman, Delia L. Francia, Dieuwertje M. Mossel, Linda A. Brouwer, Gilles F. H. Diercks, Karin M. Vermeulen, Mark Folkertsma, Mojtaba Ghods, Julia Kzhyshkowska, Harald Kluter, Guido Krenning, Berend van der Lei, Martin C. Harmsen
Summary: Autologous lipofilling improves the clinical outcome of dermal scars by inducing a pro-regenerative immune response, increasing vascularization, promoting epidermal proliferation, and remodeling the extracellular matrix of scar tissue.
AESTHETIC SURGERY JOURNAL
(2022)
Article
Dermatology
Alet J. G. Leus, Marjolijn S. Haisma, Jorrit B. Terra, Gilles F. H. Diercks, Marloes S. Van Kester, Gyorgy B. Halmos, Emoke Racz, Boukje A. C. Van Dijk, Boudewijn E. C. Plaat
Summary: Guidelines for cutaneous squamous cell carcinoma of the head and neck do not consider the age of the patient but assume equal tumor characteristics and prognosis for younger and elderly patients. This study compares tumor characteristics and identifies age-specific risk factors for disease progression in younger and elderly patients.
ACTA DERMATO-VENEREOLOGICA
(2022)
Letter
Dermatology
A. J. G. Leus, B. Horvath, J. B. Terra, G. F. H. Diercks, B. E. C. Plaat, S. F. Oosting, E. Racz
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Letter
Dermatology
Antoni Gostynski, Gilles F. H. Diercks, Maria-Jose Escamez, Nisha Suyien Chandran, Raul de Lucas, Adela Garcia-Martin, Marcela Del Rio, Jeroen Bremer, Maria C. Bolling, Alvaro Meana, Sara G. Llames, Enno Schmidt, Ralf Ludwig, Marcel F. Jonkman, Hendri H. Pas, Anna M. G. Pasmooij
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Dermatology
Hanan Rashid, Joost M. Meijer, Maria C. Bolling, Gilles F. H. Diercks, Hendri H. Pas, Barbara Horvath
Summary: Patients with mucous membrane pemphigoid present with heterogeneous clinical manifestations, with new symptoms potentially developing during the disease course. Cancer screening should be considered for patients with autoantibodies against laminin-332.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2022)
Letter
Dermatology
E. Gribaleva, S. M. van der Molen, D. Kramer, B. Horvath, A. Allenova, G. F. H. Diercks, H. H. Pas
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Letter
Dermatology
Clara Harrs, Peter C. van den Akker, Rosalie Baardman, Jose C. Duipmans, Barbara Horvath, Marloes S. van Kester, Henny H. Lemmink, Emoke Racz, Marieke C. Bolling, Gilles F. H. Diercks
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Dermatology
Farhat Zaheri, Hendri H. Pas, Jeroen Bremer, Joost M. Meijer, Marieke C. Bolling, Barbara Horvath, Gilles F. H. Diercks
Summary: This study aimed to analyze a cohort of Dutch patients with paraneoplastic pemphigus (PNP) and identify atypical cases that did not meet the diagnostic criteria. The results showed several patients who did not completely meet the set criteria.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Irma van de Beek, Iris E. Glykofridis, Jan C. Oosterwijk, Peter C. van den Akker, Gilles F. H. Diercks, Maria C. Bolling, Quinten Waisfisz, Arjen R. Mensenkamp, Jesper A. Balk, Rob Zwart, Alex Postma, Hanne E. J. Meijers-Heijboer, R. Jeroen A. van Moorselaar, Rob M. F. Wolthuis, Arjan C. Houweling
Summary: This study reveals a novel hereditary disorder characterized by skin and mucosal lesions, extensive lipomatosis, and renal cell carcinomas. The researchers identified a missense variant in the PRDM10 gene that co-segregated with the phenotype in the family and controls the transcription of the FLCN gene. The findings demonstrate that the germline variant PRDM10(Cys677Tyr) causes decreased cellular folliculin expression and underlies a distinct syndrome.
HUMAN MOLECULAR GENETICS
(2023)
Letter
Dermatology
Aniek Lamberts, Nika Kotnik, Joost M. Meijer, Leon C. van Kempen, Gilles F. H. Diercks, Barbara Horvath
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Review
Dermatology
Jeffrey Damman, Gilles F. H. Diercks, Martijn B. van Doorn, Suzanne G. M. A. Pasmans, Maud A. W. Hermans
Summary: Mastocytosis is a disease characterized by abnormal proliferation of mast cells, mainly affecting the skin. The histopathological criteria for diagnosis are still controversial, and further research is needed to establish them. The number of mast cells is influenced by various factors such as detection techniques, criteria for viable mast cells, biopsy location, and dermal level. In the diagnosis of cutaneous lesions of mastocytosis, a mast cell count between 75 and 250 MCs/mm(2) should be considered, while a count above 250 MCs/mm(2) can confirm the diagnosis.
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2023)
Letter
Dermatology
N. Kotnik, A. Langner, N. H. Meyer, H. H. Pas, B. F. Gibbs, J. M. Meijer, G. F. H. Diercks, B. Horvath, U. Raap
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Article
Biochemistry & Molecular Biology
D. Nakladal, S. P. H. Lambooy, S. Misuth, D. Jepcova, C. P. Joschko, A. van Buiten, M. Goris, F. Hoogstra-Berends, N. J. Kloosterhuis, N. Huijkman, B. van de Sluis, G. F. Diercks, J. H. Buikema, R. H. Henning, L. E. Deelman
Summary: Deficiencies in CBS lead to hyperhomocysteinemia, but it is not directly linked to the development of end organ damage.
