Results 71 to 80 of about 3,562 (228)

Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis

Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann, Jennifer L. Clegg, Vidhya Jagannathan, Dominique J. Wiener, Angelica Kallenberg, Robert A. Grahn, Clarissa P. Souza, Tosso Leeb   +7 more
wiley   +1 more source

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

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

The precise structures and stereochemistry of trihydroxy-linoleates esterified in human and porcine epidermis and their significance in skin barrier function: Implication of an epoxide hydrolase in the transformations of linoleate [PDF]

, 2016
Creation of an intact skin water barrier, a prerequisite for life on dry land, requires the lipoxygenase-catalyzed oxidation of the essential fatty acid linoleate, which is esterified to the ω-hydroxyl of an epidermis-specific ceramide.
Boeglin, William E., Brash, Alan R., Calcutt, M. Wade, Chiba, Takahito, O'Donnell, Valerie B., Thomas, Christopher P.   +5 more
core   +1 more source

Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]

, 2017
Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S., Raj, Shailly, Sami, Ifsa, Singh, Sonali   +3 more
core   +2 more sources

The role of NRF2 transcription factor in inflammatory skin diseases

BioFactors, Volume 51, Issue 2, March/April 2025.
Nrf2 is essential for maintaining skin homeostasis and regulating inflammation. This review highlights the multifaceted role of Nrf2 in skin inflammatory diseases like atopic dermatitis and psoriasis. While Nrf2 activation can be therapeutic, excessive activation can paradoxically exacerbate skin conditions.
Sara Salman, Virginie Paulet, Kévin Hardonnière, Saadia Kerdine‐Römer   +3 more
wiley   +1 more source

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.
ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf, Marie Clark, Anthony Chen, Anita Haggstrom   +3 more
wiley   +1 more source

Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
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