Results 91 to 100 of about 6,529 (236)

Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases

Indian Journal of Paediatric Dermatology, 2016
Lamellar ichthyosis (LI) is a rare skin disorder inherited as an autosomal recessive trait. Affected babies are born in a collodion membrane that sheds gradually revealing extensive scaling of the skin.
K Pratyusha, P Divya Sree, BSN Reddy
doaj   +1 more source

Loss of ceramide synthase 3 causes lethal skin barrier disruption [PDF]

, 2017
The stratum corneum as the outermost epidermal layer protects against exsiccation and infection. Both the underlying cornified envelope (CE) and the intercellular lipid matrix contribute essentially to these two main protective barriers. Epidermis-unique
Bayerle, Aline, Dalpke, Alexander, Epstein, Sharon, Gorgas, Karin, Gröne, Hermann-Josef, Imgrund, Silke, Jennemann, Richard, Kirsch, Joachim, Nickel, Walter, Rabionet, Mariona, Riezman, Howard, Rothermel, Ulrike, Sandhoff, Roger, van der Hoeven, Franciscus, Willecke, Klaus   +14 more
core  

Oral manifestations of lamellar ichthyosis in association with rickets

BMJ Case Reports, 2020
Lamellar ichthyosis (LI) is a rare genetic condition that affects the skin, with an incidence of less than 1:300 000 in different parts of the world. This report describes a case of a 5-year-old girl with LI and rickets presenting with premature loss of ...
N. Tewari, V. Mathur, Rigzin Tamchos, M. Rahul   +3 more
semanticscholar   +1 more source

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C gamma 1 and protein kinase C pathways [PDF]

, 2016
This work was supported by the German Research Foundation DFG (SFB 850/B6) and by the Fritz-Thyssen foundation (Az.10.14.2.150) to C.-W.F and the Medical Research Council (MR/L010402/1) to D.P ...
A Murthy, A Sääf, A Toker, AA Długosz, BM Lichtenberger, CA Strott, CP Blobel, CW Franzke, CW Franzke, DC Blaydon, DC Blaydon, E Candi, E Candi, E Proksch, E Ueda, EM Hur, F Spörl, G Adhikary, H Wakita, HR Seo, JJ Peschon, JM Haugh, K Chanprapaph, K Chida, K Nishi, L Eckhart, LJ Russell, M Jost, M Kashiwagi, M Ohba, M Piepkorn, M Pigors, M Raghunath, M Sibilia, MA Brooke, MF Denning, MF Denning, MJ Kim, MJ Wieduwilt, MR Schneider, NJ Reynolds, P Campbell, P Gierschik, P Tsukerman, PJ Miettinen, PT La Celle, RA Black, S John, S Kawabe, S Pastore, S Tholen, SS Tibudan, U Sahin, V Mitev, X Cheng, Z Xie   +55 more
core   +1 more source

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

Abnormal Lamellar Granules in Harlequin Ichthyosis

Journal of Investigative Dermatology, 1992
Lamellar granules are specialized lipid-rich organelles present in epidermal granular cells. They fuse with the apical cell surface and discharge their contents into the intercellular space forming lamellar sheets. It was previously shown by electron microscopy that lamellar granules in biopsies of infants affected with harlequin ichthyosis are either ...
Milner, Martha E, O'Guin, W Michael, Holbrook, Karen A, Dale, Beverly A   +3 more
openaire   +2 more sources

LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome [PDF]

, 2017
SPINK5, encoding the putative multi-domain serine protease inhibitor LEKTI, was recently identified as the defective gene in the severe autosomal recessive ichthyosiform skin condition, Netherton syndrome (NS). Using monoclonal and polyclonal antibodies,
Al Saati, Talal, Bitoun, Emmanuelle, Bodemer, Christine, Bonnart, Chrystelle, Boralevi, Franck, Cobbold, Christian, D'Alessio, Marina, Harper, John, Hohl, Daniel, Hovnanian, Alain, Lamant, Laurence, Mariotti, Feliciana, Mazereeuw-Hautier, Juliette, Micheloni, Alessia, Tartaglia-Polcini, Alessandro   +14 more
core  

Orchestrated control of filaggrin-actin scaffolds underpins cornification. [PDF]

, 2018
Epidermal stratification critically depends on keratinocyte differentiation and programmed death by cornification, leading to formation of a protective skin barrier.
Bernardino de la Serna, Jorge, Colin-York, Huw, Eggeling, Christian, Fritzsche, Marco, Gutowska-Owsiak, Danuta, Leeming, Michael, Naeem, Aishath, Ogg, Graham, O’Shaughnessy, Ryan, Podobas, Ewa Izabela   +9 more
core   +6 more sources

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