Results 111 to 120 of about 72,798 (235)

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

Journal of Lipid Research, 2008
Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions.
Peter M. Elias, Mary L. Williams, Walter M. Holleran, Yan J. Jiang, Matthias Schmuth   +4 more
doaj  

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

Frontiers in Pediatrics, 2019
Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani   +11 more
doaj   +1 more source

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  

Lamellar ichthyosis (collodian baby) with severe bilateral ectropion

Indian Journal of Ophthalmology, 1988
A case of lamellar ichthyosis (collodian baby), is being reported. Skin biopsy has confirmed the diagnosis. Severe bilateral ectropion of thee eyelids was the prominent feature. Management of such cases has been briefly discussed.
Boparai M, Dash R, Sohi B
doaj  

Sight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis – Case Report [PDF]

, 2020
We report a case of lamellar ichthyosis and sight-threatening complications of cicatricial ectropion in an adult male patient which was surgically managed with tectonic penetrating keratoplasty.
Blanka Pinková, Eva Vlková, Hana Došková, Natália Rybárová   +3 more
core   +1 more source

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

Genetic Heterogeneity in Lamellar Ichthyosis

Journal of Investigative Dermatology, 1996
Marcel Huber, Daniel Hohl
openaire   +4 more sources

UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES [PDF]

, 2011
2011-08Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease.
42169, AKIYAMA, MASASHI
core  

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

Management of harlequin ichthyosis in low-income countries [PDF]

, 2011
Mesia, D, Rossi, G
core   +2 more sources