Results 61 to 70 of about 2,763 (196)

Lethal junctional epidermolysis bullosa in heavy horses in France [PDF]

, 1989
Cinq cas d’épidermolyse huileuse jonctionnelle léthale ( Epitheliogenesis imperfecta ) ont été diagnostiqués au début de l’année 1989 dans deux races de cheval de trait en France. Les études anatomo-cliniques, ultra-structurales et génétiques montrent qu’
Gourreau, J.M., Dupere, A.M., Duperé, A.-M., Gourreau, J.-M., Feillou, C., Morand, M., Alliot, A., Courreau, Jean-François, Courreau, J.F.   +8 more
core   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Junctional epidermolysis bullosa: A mild variant in two Indian sisters

, 1992
Two sisters developed a bullous skin disease in early childhood. The disease had features of junctional epidermolysis bullosa but differed clinically from previously recorded ...
Blewitt, R.W., Newbould, M.J., Jones, Carolyn; id_orcid, Harrison, P.V.   +3 more
core   +1 more source

Congenital Pyloric Atresia with Junctional Epidermolysis Bullosa: a Case Report

, 1997
The association of pyloric atresia and epidermolysis bullosa(EB) in newborn is rare and inheritant as an autosomal recessive trait. We report a newborn girl with pyloric atresia and epidermolysis bullosa.
한석주
core   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

The puzzling effect of disease severity on quality of life in epidermolysis bullosa

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Vinzenz Hübl, Sophie Strobl, Gudrun Salamon, Cristina Has, on behalf of the BUR‐EB Study Group   +4 more
wiley   +1 more source

Generalized atrophic benign epidermolysis bullosa

, 1996
Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare autosomal recessive variant of junctional epidermolysis bullosa. A typical feature in these patients is the cicatricial alopecia resembling male pattern baldness: in this paper we ...
La Placa M., Fanti P. A., Tosti A., Vincenzi C.   +3 more
core   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, Volume 5, Issue 2, Page 640-643, June 2026.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Compound Heterozygosity for Nonsense and Missense Mutations in the LAMB3 Gene in Nonlethal Junctional Epidermolysis Bullosa

, 1996
Mutations in the genes encoding laminin 5 (LAMA3, LAMB3, and LAMC2) have been delineated in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herlitz) variant.
Christiano, Angela M., Eady, Robin A.J., McGrath, John A., Jouni Uitto, Uitto, Jouni, Angela M. Christiano, John A. McGrath, Robin A.J. Eady, Pulkkinen, Leena, Leena Pulkkinen   +9 more
core   +1 more source

Oral and gastrointestinal manifestations of epidermolysis bullosa.

, 1992
The mouth, oesophagus, and anus are often involved in dystrophic and junctional epidermolysis bullosa, but the frequency is unknown. Among 246 patients with epidermolysis bullosa, dysphagia developed in 76% of those with recessive dystrophic, in 20% of ...
Mayou, B, Travis, Simon, Schofield, OM, O'Connor, AF, McGrath, JA, Turnbull, AJ, Travis, SP, Chan, O, Eady, RA, Thompson, RP   +9 more
core   +1 more source