Results 71 to 80 of about 72,798 (235)

Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities

, 2000
The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core   +1 more source

Molecular organization and in situ assembly of the human skin barrier [PDF]

, 2016
A deficient skin barrier function is a characteristic feature of skin diseases such as eczema, psoriasis and the ichtyoses. A malformation of the lipid matrix might be a major factor in barrier deficient skin disease.
Hollander, Lianne den
core   +1 more source

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Egyptian Journal of Medical Human Genetics, 2016
Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms.
Rabah M. Shawky, Solaf M. Elsayed, Heba Amgad   +2 more
doaj   +1 more source

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis

Metabolites, 2022
The stratum corneum of the epidermis acts as a life-sustaining permeability barrier. Unique heterogeneous ceramides, especially ω-O-acylceramides, are key components for the formation of stable lamellar membrane structures in the stratum corneum and are ...
Fansi Zeng, Wenzhen Qin, Feifei Huang, Pingan Chang   +3 more
doaj   +1 more source

Functional and proteomic analysis of a full thickness filaggrin-deficient skin organoid model [PDF]

, 2019
Background: Atopic eczema is an itchy inflammatory disorder characterised by skin barrier dysfunction. Loss-of-function mutations in the gene encoding filaggrin (FLG) are a major risk factor, but the mechanisms by which filaggrin haploinsufficiency leads
A Fabregat, A Naeem, A Sandilands, A Sandilands, B Kim, C Cole, C Cole, C Finan, C Flohr, C Hausmann, C He, C Lefèvre, C Palmer, D Szklarczyk, D Tobin, E Hoste, E Leclerc, E Rodriguez, E van den Bogaard, F Smith, G Denecker, G McIlroy, H Alexander, H Baurecht, H Han, H Niehues, J Bergboer, J Folch, J Rheinwald, J Silverberg, J Timmerman, K Purdie, K Vávrová, L Paternoster, M Elias, M Elias, M Ferreira, M Kamsteeg, M Kretz, M Visser, N Markova, N Novak, P Arkwright, P Di Meglio, P Gao, R Gruber, R Gruber, R Mateu, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Brown, S Johansson, S Smith, S Weidinger, T Elango, T Gil, T Matsui, V Rothhammer, V van Drongelen, W Damsky, W Nirunsuksiri, Y Dou, Y Lee, Y Perez-Riverol, Z Xie, Z Zhu   +71 more
core   +3 more sources

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]

, 2014
International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien, Chiaverini, Christine, Chouquet, Cécile, Dreyfus, Isabelle, Dupuis, Jérôme, Ezzedine, Khaled, Henner, Sophie, Mallet, Stephanie, Martin, Ludovic, Maza, Aude, Mazereeuw-Hautier, Juliette, Pascal, Sandrine, Rodriguez, Lauriane, Vabres, Pierre   +13 more
core   +3 more sources

Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye

Clinical Ophthalmology, 2009
Burak Turgut1, Orhan Aydemir1, Murat Kaya1, Peykan Türkçüog? lu2, Tamer Demir1, Ülkü Çeliker11Firat University School of Medicine, Department of Ophthalmology, Elazig, Turkey; 2Inonu University ...
Burak Turgut, Orhan Aydemir, Murat Kaya, et al   +3 more
doaj  

Expression of involucrin, loricrin and keratin 2e in the epidermis of three kinds of ichthyosis

Pifu-xingbing zhenliaoxue zazhi, 2022
Objective To compare expressions of involucrin, loricrin and K2e in patients with KPI, IV and LI to health controls, and analyse whether there is a relationship between the degree of hyperkeratosis and these proteins.
Xuemei LI, Wei LI, Changxing LI, Jingyao LIANG, Xibao ZHANG   +4 more
doaj   +1 more source

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]

, 2019
In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen, Martínez-Cruz, Luis Alfonso, Müller, Dominik, Seker, Murat   +3 more
core   +1 more source