Results 81 to 90 of about 19,066 (210)

La dysplasie ectodermique anhydrotique : à propos d’un cas au Centre Mère et Enfant de la Fondation Chantal Biya, Yaoundé, Cameroun [PDF]

The Pan African Medical Journal, 2010
Ectodermal dysplasia are rare genetic diseases characterized by the absence or dysplasia of some tissues of ectodermal origin. We present a case of a young boy seen at the age of seven and a half years for late eruption of teeth, morphologic ...
Chelo David, Njiki Kinkela Mina, Monebenimp Francisca, Nguefack Seraphin, Ngaha Augustin, Tietche Felix   +5 more
doaj  

Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report

Journal of Medical Case Reports, 2019
Background Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands.
Reema AlNuaimi, Mohammad Mansoor
doaj   +1 more source

A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]

, 2019
Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano, Carrer, Andrea, Chiani, Francesco, Kuang, Yuanyuan, Lerner, Richard A, Mammano, Fabio, Nardin, Chiara, Paludetti, Gaetano, Salvatore, Anna Maria, Xu, Liang, Yang, Guang, Ziraldo, Gaia, Zonta, Francesco   +12 more
core   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

Pediatric Allergy and Immunology, Volume 36, Issue 11, November 2025.
Abstract Background Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE.
Fabio Cardinale, Ivan Taietti, Mayla Sgrulletti, Lucia Pacillo, Viviana Moschese, Caterina Cancrini, Raffaele Badolato, Michele Miraglia del Giudice, Gian Luigi Marseglia, Elena Chiappini, Riccardo Castagnoli, Primary Atopic Disorders Working Group, on behalf of the Italian Society of Pediatric Allergy and Immunology (SIAIP), Salvatore Barberi, Anna Belloni Fortina, Roberto Berni Canani, Paolo Bottau, Carlo Caffarelli, Mauro Calvani, Antonella Cianferoni, Francesco Cinetto, Bianca Laura Cinicola, Emilia Cirillo, Francesca Conti, Laura Dotta, Marzia Duse, Silvia Federici, Alessandro Fiocchi, Elena Galli, Silvia Giliani, Giuliana Giardino, Cristiana Indolfi, Lucia Leonardi, Amelia Licari, Vassilios Lougaris, Sara Manti, Alberto Martelli, Domenico Minasi, Elio Novembre, Riccardo Papa, Claudio Pignata, Federica Pulvirenti, Maria Sangerardi, Annarosa Soresina, Mariangela Tosca, Alberto Giovanni Ugazio, Anna Maria Zicari   +46 more
wiley   +1 more source

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Genetics Selection Evolution, 2003
Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle.
Drögemüller Cord, Distl Ottmar, Leeb Tosso   +2 more
doaj   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

Dentofacial Features in Schimke Immuno‐Osseous Dysplasia: From Childhood to Adolescence

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Schimke immune‐osseous dysplasia (SIOD) is a sporadic multi‐system disorder mainly characterized by spondyloepiphyseal dysplasia, immune insufficiency, and renal failure. Little evidence is available regarding the dentofacial features of SIOD.
Alireza Sharifinejad, Fateme Parvizi, Maryam Enteghad, Yasamin Ghahramani   +3 more
wiley   +1 more source

Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura [PDF]

, 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which
Dias-da-Silva, Magnus Régios, Lazaretti-Castro, Marise, Weiler, Fernanda Guimarães   +2 more
core   +2 more sources

Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction

Case Reports in Medicine, 2009
Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding.
M. Klinger, F. Caviggioli, B. Banzatti, C. Fossati, F. Villani   +4 more
doaj   +1 more source