Results 31 to 40 of about 18,314 (251)

Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

Case Reports in Ophthalmological Medicine, 2015
We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for ...
Xiaoyun Zhang, Li Xu, Xiaofang Li, Chunyan Li, Haitao Zhang   +4 more
doaj   +1 more source

Prosthodontic management of children with ectodermal dysplasia: A literature review

Saudi Dental Journal, 2019
Introduction: Ectodermal dysplasia (ED) is a large group of heterogeneous heritable conditions characterized by congenital defects of two or more ectodermal structures and their appendages.
Abdulaziz. A. Alowairdhi
doaj   +1 more source

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Allergy, Asthma & Clinical Immunology, 2021
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey   +11 more
doaj   +1 more source

Ocular manifestations of ectodermal dysplasia [PDF]

Orphanet Journal of Rare Diseases, 2021
Abstract Purpose The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.
James A. Katowitz, Daphna Prat, Daphna Prat, Alanna Strong, William R. Katowitz   +4 more
openaire   +4 more sources

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. [PDF]

, 2009
Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606).
A Monreal, A Monreal, Aubry Tardivel, C Bossen, D Han, D Jumlongras, DW Stockton, Gabriele Mues, H Fan, H Vastardis, Hitesh Kapadia, I Thesleff, J Kere, J Zonana, J Zonana, JS Thompson, K Newton, L Lammi, Laure Willen, M Bayés, M Rasool, M Yan, M-JH Van den Boogaar, ML Casal, MO Lexner, N Holler, O Elomaa, O Gaide, P Schneider, P Schneider, P Tarpey, Pascal Schneider, PF Colosimo, R Tao, Rena N D'Souza, Robyn Seaman, S Ezer, S Li, S Song, Sylvia Frazier-Bowers, Y Chen   +40 more
core   +3 more sources

Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]

, 2005
BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E., Sárközi, Andrea, Wyszynski, Diego F   +2 more
core   +3 more sources

Pathogenesis of ectodermal dysplasia [PDF]

Head & Face Medicine, 2012
Ectodermal dysplasias (ED) are characterized by impaired development of organs forming from the embryonic surface ectoderm. Thus, in ED organs like teeth, hair, nails and exocrine glands are hypoplastic or totally missing. The pathogenesis of the defects is starting to be understood thanks to the identification of the responsible gene mutations, and to
openaire   +3 more sources

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Meeting report: a hard look at the state of enamel research. [PDF]

, 2017
The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National Institute of Dental and Craniofacial Research (NIDCR).
Bartlett, John D, DenBesten, Pamela, Diekwisch, Thomas Gh, Duverger, Olivier, Joester, Derk, Klein, Ophir D, Kulkarni, Ashok B, Lacruz, Rodrigo S, Millar, Sarah E, Moradian-Oldak, Janet, Pugach, Megan K, Shaw, Wendy, Simmer, James P, Wright, J Timothy   +13 more
core   +1 more source

Hypohidrotic ectodermal dysplasia

Dermatology Online Journal, 2008
We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
openaire   +5 more sources