Results 61 to 70 of about 4,533 (250)

Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]

, 2014
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Badiz, Thais Cardoso De Mello Tucunduva, Enokihara, Milvia Maria Simoes E Silva, Porro, Adriana Maria, Silva, Leticia Bueno Nunes Da   +3 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

Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]

, 2011
Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N., Shashibhushan, K.K., Subba Reddy, V.V., Viswanathan, Revathy   +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

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

Congenital Erosive and Scarring Eruption (CEASE): A Report of Two Cases and Review of the Literature on Congenital Erosive and Vesicular Dermatosis. [PDF]

Pediatr Dermatol
ABSTRACT Congenital erosive and vesicular dermatosis (CEVD) is a rare condition that typically presents at birth with erosions and vesicles that heal with distinctive reticulate and supple scarring. We report two cases of CEVD in term infants, both of which exhibited unique features.
Moxham L, Felton S, Lam JM.
europepmc   +2 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

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

Printed Wearable Sweat Rate Sensor for Continuous In Situ Perspiration Measurement

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
A wireless wearable sweat rate sensor system is presented, featuring digital 3D direct‐write printing on a flexible substrate with microfluidic layers for continuous, real‐time monitoring. Printed encapsulated metal electrodes are used for capacitance measurements, achieving high sensitivity (0.01 μL min−1) while maintaining a compact and lightweight ...
Mohammad Shafiqul Islam, Sangwon Cha, Md Farhad Hassan, Wenxin Cai, Tahsin Sejat Saniat, Cedar Rose Leach, Yasser Khan   +6 more
wiley   +1 more source

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