Results 21 to 30 of about 1,774 (212)

Oral and perioral soft tissue lesions and oral functions in patients with dystrophic epidermolysis bullosa [PDF]

Vojnosanitetski Pregled, 2022
Background/Aim. Dystrophic epidermolysis bullosa (DEB) is characterized by distinct systemic and skin changes, as well as numerous oral manifestations. The aim of the study was to examine oral and perioral soft tissues and oral functions in DEB patients ...
Čolović Aleksandra, Jovičić Olivera, Mandinić Zoran, Mandić Jelena, Juloski Jelena   +4 more
doaj   +1 more source

Epidermolysis Bullosa Dystrophica [PDF]

, 2020
National Cancer Institute
openaire   +2 more sources

Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

Indian Journal of Dermatology, 2022
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS).
Sunitha Tella, Shehnaz Sultana, Sujatha Madireddy, Pratibha Nallari, Venkateshwari Ananthapur   +4 more
doaj   +1 more source

A Case of Dystrophic Dentition in Epidermolysis Bullosa Dystrophica [PDF]

Proceedings of the Royal Society of Medicine, 1963
Christine Farris
openaire   +3 more sources

Skin microbiome analysis of a junctional epidermolysis bullosa patient treated with genetically modified stem cells. [PDF]

J Dtsch Dermatol Ges
Summary Background and Objective Junctional epidermolysis bullosa (JEB) is a subtype of epidermolysis bullosa caused by mutations in the LAMB3 gene. We treated a patient with JEB using genetically corrected autologous epidermal cultures retrovirally transduced with the functional LAMB3 gene sequence.
Dermietzel A, Tosun B, Nguyen M, Wessel K, Rauer L, Neumann AU, Hirsch T, CK‐CARE study group, Traidl-Hoffmann C, Reiger M, Hülpüsch C, Kueckelhaus M.   +11 more
europepmc   +2 more sources

Epidermolysis bullosa dystrophica prätibialis – Klinischer Schnappschuss und Management einer seltenen Erkrankung

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 19, Issue 7, Page 983-986, July 2021., 2021
Zusammenfassung Bei Patienten im Kindesalter sollte bei auftretender Blasenbildung auch bei geringer Symptomatik an die Möglichkeit einer hereditären Epidermolysis bullosa gedacht werden. Diagnostisch wegweisend ist neben Klinik und Histologie die molekulargenetische Untersuchung.
Lisa Marlen Will, Jörg Reichrath, Thomas Vogt   +2 more
wiley   +1 more source

A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*

British Journal of Dermatology, Volume 184, Issue 4, Page 606-616, April 2021., 2021
Summary Background Discovering the genetic basis of inherited skin diseases is fundamental to improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic linkage and candidate gene approaches led to the molecular characterization of several dozen genodermatoses, but over the past decade the advent of next‐generation ...
F.P.‐C. Chiu, B.J. Doolan, J.A. McGrath, A. Onoufriadis   +3 more
wiley   +1 more source

Pretibial dystrophic epidermolysis bullosa [PDF]

Anais Brasileiros de Dermatologia, 2017
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main ...
Elisabeth de Albuquerque Cavalcanti Callegaro, Flavio Nappi, Rosana Lazzarini, Rute Facchini Lellis   +3 more
doaj   +1 more source

Anesthetic Management of a Patient with Epidermolysis Bullosa Dystrophica [PDF]

Anesthesiology, 1971
R A, Hamann, P J, Cohen
openaire   +3 more sources

Regional Anesthesia in Children with Epidermolysis Bullosa Dystrophica [PDF]

Anesthesiology, 1988
Robert E. Kelly
openaire   +3 more sources