Results 51 to 60 of about 3,494 (229)
Congenital Erosive and Scarring Eruption (CEASE): A Report of Two Cases and Review of the Literature on Congenital Erosive and Vesicular Dermatosis. [PDF]
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
Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]
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. +3 more
core +1 more source
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 +7 more
doaj +1 more source
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
Spinocerebellar Ataxia Type 2 [PDF]
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 +3 more
core +1 more source
I Jornada de expertos en ictiosis [PDF]
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 +10 more
core +3 more sources
Ectodermal dysplasia - A rare case report
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 +3 more
doaj +1 more source
Printed Wearable Sweat Rate Sensor for Continuous In Situ Perspiration Measurement
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 +6 more
wiley +1 more source
Frequency of Fabry disease in male and female haemodialysis patients in Spain [PDF]
Background: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme a-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females.
Alegria, P.R. (Pilar) +13 more
core
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K +10 more
core +3 more sources

