Results 31 to 40 of about 184 (126)

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  

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

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

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani, Zahra Bayati, Mohsen Soosanabadi, Akbar Zamani, Asghar Lotfi, Milad Gholami   +5 more
wiley   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

Indian Journal of Dermatology, 2017
Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh, Rahul Ahar, Gobinda Chatterjee, Neha Sharma, Shruti Alhad Jadhav   +4 more
doaj   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review

Anais Brasileiros de Dermatologia, 2023
Background Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women ...
Zesi Liu, Chunli Jing
doaj   +1 more source

The Impact of Age on the Lipidomic Profile of the Stratum Corneum and Associated Effects on Structure, Function and Overall Skin Health in Adults Predisposed to Atopic Dermatitis

Experimental Dermatology, Volume 34, Issue 12, December 2025.
Advancing age in eczema‐prone adults correlates with increased dryness, reduced hydration and altered lipid profiles. Spectroscopy showed declines in lipids, water, esters and carboxylates. Lipidomics revealed rising ceramide species, shorter acyl chains and TAG associations.
S. F. Williams, P. Andrew, K. Brown, J. Chittock, A. Pinnock, A. Poyner, M. J. Cork, S. G. Danby   +7 more
wiley   +1 more source