Results 41 to 50 of about 5,713 (219)

Acid ceramidase overactivity drives ceramide loss, leading to atopic dry skin and Th2‐skewed immune polarization

The Journal of Pathology, Volume 269, Issue 2, Page 232-247, June 2026.
Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada, Miho Sashikawa‐Kimura, Yusuke Ohno, Md Razib Hossain, Xiaonan Xie, Kazuhisa Iwabuchi, Mayumi Komine, Mamitaro Ohtsuki, Genji Imokawa   +8 more
wiley   +1 more source

Cytochrome b 5 null mouse: a new model for studying inherited skin disorders and the role of unsaturated fatty acids in normal homeostasis [PDF]

, 2010
Microsomal cytochrome b (5) is a ubiquitous, 15.2 kDa haemoprotein implicated in a number of cellular processes such as fatty acid desaturation, drug metabolism, steroid hormone biosynthesis and methaemoglobin reduction.
Robert D. Finn, Lesley A. McLaughlin, Catherine Hughes, Chengli Song, Colin J. Henderson, C. Roland Wolf   +5 more
core   +1 more source

Video Demonstration of ABCA12‐Related Harlequin Ichthyosis in a Low‐Resource Setting: Case Report and Review of Early Management Challenges

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu, Dependable C. Amaechi, Tochi C. Elendu, Emmanuel C. Amaechi, Ijeoma D. Elendu, Emeka H. Okolo, Mbanefo C. Uyanwune   +6 more
wiley   +1 more source

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   +1 more source

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

Frontiers in Genetics, 2022
The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells.
Bo Liang, Bo Liang, Bo Liang, Bo Liang, Bo Liang, Bo Liang, He Huang, He Huang, He Huang, He Huang, He Huang, Jiaxiang Zhang, Gang Chen, Gang Chen, Gang Chen, Gang Chen, Gang Chen, Xiangsheng Kong, Mengting Zhu, Peiguang Wang, Peiguang Wang, Peiguang Wang, Peiguang Wang, Peiguang Wang, Lili Tang, Lili Tang, Lili Tang, Lili Tang, Lili Tang   +28 more
doaj   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +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

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management

The Journal of Dermatology, Volume 53, Issue 3, Page 380-387, March 2026.
ABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Takashi Sakai
wiley   +1 more source

Lamellar Ichthyosis: A Rare Mucocutaneous Disease [PDF]

Journal of Krishna Institute of Medical Sciences University, 2019
Lamellar Ichthyosis is a rare genodermatotic condition, which occurs due to the mutation in the transglutaminase-1gene. It is a rare disease with a global prevalence of 1 in 300000 live births with no specific gender predilection.
Yogesh Chhaparwal, Komal Smriti , Saurabh Roy, Shubha Chhaparwal   +3 more
doaj  

Successful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab

Biologics: Targets & Therapy, 2022
Faisal K Binkhonain, Sara Aldokhayel, Hessah BinJadeed, Abdulaziz Madani Dermatology Department, College of Medicine, King Saud University, Riyadh, Saudi ArabiaCorrespondence: Abdulaziz Madani, Dermatology Department, King Saud University, Riyadh, 7805 ...
Binkhonain FK, Aldokhayel S, BinJadeed H, Madani A   +3 more
doaj