Results 31 to 40 of about 3,156 (181)

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Einstein (São Paulo)
Epidermolysis bullosa describes a group of skin conditions caused by mutations in genes encoding proteins related to dermal-epidermal adhesion. In the United States, 50 cases of epidermolysis bullosa per 1 million live births are estimated, 92% of which ...
Denise Maria Christofolini, José Ricardo Magliocco Ceroni, Giovanna Guimarães Soares, Gustavo Bertollini Lamy, Ana Carolina Nemeth Calvo, Tamara Alba dos Santos, Bianca Del Bel Sonoda, Bianca Bianco, Caio Parente Barbosa   +8 more
doaj   +1 more source

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

Frontiers in Immunology, 2022
Collagen VII is the main constituent of the anchoring fibrils, important adhesive structures that attach the epidermis to the dermal extracellular matrix.
Franziska Schauer, Alexander Nyström, Manfred Kunz, Stefanie Hübner, Sarah Scholl, Ioannis Athanasiou, Svenja Alter, Judith Fischer, Cristina Has, Dimitra Kiritsi   +9 more
doaj   +1 more source

Dilated cardiomyopathy in dystrophic epidermolysis bullosa [PDF]

Archives of Disease in Childhood, 2000
Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children.In the past seven years we have routinely screened patients with severe DEB who have been under the care of this hospital by yearly clinical review ...
R U, Sidwell, R, Yates, D, Atherton
openaire   +2 more sources

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Dystrophic Epidermolysis Bullosa in Assaf Lambs

Journal of Comparative Pathology, 2011
Dystrophic epidermolysis bullosa (DEB) was diagnosed in five newborn Assaf lambs from a flock in which around 1-2% of the lambs were lame. Affected animals had marked erythema of the coronary band and subsequent detachment of the hooves. Blisters were present on the lips and in the oral and oesophageal mucosae.
Pérez Pérez, Valentín, Benavides, Julio, Delgado, L., Reyes, L. E., García Marín, Juan Francisco, Ferreras, Mª del Carmen   +5 more
openaire   +3 more sources

Renal Amyloidosis Secondary to Dystrophic Epidermolysis Bullosa: A Case Report and Review of Literature

Turkish Journal of Nephrology, 2020
Dystrophic epidermolysis bullosa (DEB) is a rare and severe hereditary dermatosis, associated with collagen VII deficiency. A chronic inflammatory syndrome secondary to recurrent cutaneous infections may be responsible for amyloid deposition in this ...
Dilek Barutçu Ataş, Mahmut Başar Aykent, İzzet Hakkı Arıkan, Ebru Aşıcıoğlu, Arzu Velioğlu, Deniz Filinte, Mehmet Koç, Zübeyde Serhan Tuğlular, İshak Çetin Özener   +8 more
doaj   +1 more source

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source

Long‐Term Efficacy and Safety of Oleogel‐S10 (Birch Triterpenes) for Pediatric Patients With Epidermolysis Bullosa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Pediatric patients with epidermolysis bullosa (EB) experience lifelong complications, and wound healing is an important treatment goal. In the phase III EASE study (NCT03068780), Oleogel‐S10 accelerated wound healing in EB.
Eli Sprecher, Mauricio Torres‐Pradilla, Maria Florencia Fernandez, Christine Bodemer, Anna L. Bruckner, Silvia Maria de Macedo Barbosa, Andrea Diociaiuti, Anna E. Martinez, Francis Palisson, Miloš Nikolić, Asunción Vicente, Raúl de Lucas, Noemi Toiber Temin, Sandra Löwe, Johannes S. Kern, Dédée F. Murrell, the EASE Study Group   +16 more
wiley   +1 more source

Management of Recessive Dystrophic Epidermolysis Bullosa in a Newborn with Porcine-derived Extracellular Matrix

Plastic and Reconstructive Surgery, Global Open, 2019
Summary:. Epidermolysis bullosa is a debilitating dermatologic disorder affecting the adhesive capability between the epidermis and dermis. The severe recessive dystrophic variant is caused by mutations in COL7A1, the gene encoding type VII collagen ...
Nicole K. Le, BS, Alicia Billington, MD, PhD, Michael Harrington, MD, MPH, Lucia Seminario-Vidal, MD, PhD   +3 more
doaj   +1 more source

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Recessive dystrophic epidermolysis bullosa inversa (RDEB‐I) is a rare subtype of dystrophic epidermolysis bullosa (EB) characterized by intertriginous cutaneous involvement and frequent mucosal disease. Although mucosal involvement is recognized in RDEB‐I, its cumulative clinical burden remains poorly defined.
Valerie R. Stichert, Nichole Halliburton, Sarah Crawford, Jennifer Phillips, Kalyani S. Marathe, Beth A. Moeves   +5 more
wiley   +1 more source