Results 51 to 60 of about 3,192 (225)

Ectodermal dysplasia

Česká Stomatologie a Praktické Zubní Lékařství, 2013
Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj   +1 more source

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases [PDF]

, 2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically
Akkus, Zeki, Aksoy, Orhan, Callea, Michele, Clarich, Gabriella, Doğan, Mehmet Sinan, Günay, Ahmet, Günay, Ayşe, Güven, Sedat, Maglione, Michele, Yavuz, İzzet   +9 more
core   +2 more sources

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]

, 2015
BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine, Albert David, Alice Goldenberg, Antoine Hamel, Armelle Magot, Arnold Munnich, AW Arnold, Bongani M. Mayosi, Brigitte Chabrol, Bruno Eymard, C Grau Salvat, Caroline Kannengiesser, Chantal Bou-Hanna, Christel Thauvin, Christian Laboisse, Christina Ulane, Cécile Méni, Cédric Le Caignec, Dominique Figarella-Branger, Dominique Israël-Biet, Emmanuelle Fleurence, Emmanuelle Salort-Campana, Eve Puzenat, Flora Bréhéret, Florence Caillon, Frances Smith, Genome of the Netherlands C, Grainne M. O’Regan, H Penagos, Irwin McLean, J Lessem, J Os van, J Piard, J Piard, Jacinda B. Sampson, Jean-Marie Mussini, Jean-Yves Mahé, Jeanine Igual, Jeffrey Odel, Julie Perrier, Juliette Piard, Kurenai Tanji, L Larizza, Laurence Faivre, M Meier, MA Simpson, Maeve A. McAleer, Mythily Ganapathi, Nadem Soufir, Nathalie Bodak, Nonhlanhla P. Khumalo, NP Khumalo, PE Weary, Perrine Brunelle, Peter L. Nagy, R McDaniell, Romain Gherardi, Rosemarie M. Watson, S Akamatsu, S Mercier, S Unger, Sandra Mercier, Stuart MacGowan, Stéphane Bézieau, Stéphanie Mallet, Sébastien Barbarot, Sébastien Küry, T Kindler, Thomas Besnard, U Otsu, Uchenna Agbim, Valérie Cormier-Daire, Yann Péréon   +72 more
core   +5 more sources

Ectodermal dysplasia - A rare case report

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a rare genetic disease caused by developmental disturbances of embryonic ectoderm derived tissues, organs, and other accessory appendages. The congenital missing of teeth is usually bilateral.
Poulomi Bhakta, Bhavna Barthunia, Haritma Nigam, Pallavi Pawar   +3 more
doaj   +1 more source

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]

, 2015
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina, Bichet, Daniel G, Bénichou, Bernard, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Ramaswami, Uma, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tylki-Szymańska, Anna, Tøndel, Camilla, Wijburg, Frits A   +17 more
core   +3 more sources

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Four Cases of Atopic Dermatitis Complicated by Sjogren's Syndrome: Link between Dry Skin and Autoimmune Anhidrosis

Allergology International, 2011
We report four adult cases of atopic dermatitis (AD) complicated by Sjogren's syndrome (SS). The patients fulfilled diagnostic criteria for AD and SS.
Shun Kitaba, Saki Matsui, Eriko Iimuro, Megumi Nishioka, Akiko Kijima, Noriko Umegaki, Hiroyuki Murota, Ichiro Katayama   +7 more
doaj   +1 more source

An interesting case of anhidrosis [PDF]

, 2023
Ross syndrome is a rare syndrome of autonomic dysfunction which is characterized by segmental hypohidrosis/ anhidrosis, Adie tonic pupil and hyporeflexia/areflexia. Exact etiology is not known.
A., Gunasekaran, Duraisamy , Laksheeba, K., Shraddha Kedlaya, P., Lenin Sankar, Ramesh, Sindhu Belavadi, Subramanian, Sivakumar, Veeramalai, Ravikumar   +6 more
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I Jornada de expertos en ictiosis [PDF]

, 2013
On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín, A. Torrelo-Fernández, A. Vega, F. Casco, F. Larcher, H. Traupe, I. Arroyo, J.L. Pedreira-Massa, P. de Unamuno-Pérez, R. de Lucas-Laguna, R. González-Sarmiento   +10 more
core   +3 more sources

Ectodermal Dysplasia: A Review

Makara Journal of Health Research, 2021
Background: Ectodermal dysplasia is a complex group of genetic disorders identified through the abnormal development of ectodermal structures. It is a genetic disorder that affects the development or functions of tissues such as the teeth, hair, nails ...
Yasemin Yavuz, Mehmet Sinan Doğan, Myroslav Goncharuk-Khomyn   +2 more
doaj   +1 more source