Results 41 to 50 of about 4,560 (196)

ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis

Veterinary Dermatology, Volume 37, Issue 3, Page 365-374, June 2026.
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake, Melissa P. Swan, Kari J. Ekenstedt   +2 more
wiley   +1 more source

Bilateral Congenital Upper Eyelid Eversion in Neonates with Lamellar Ichthyosis

TNOA Journal of Ophthalmic Science and Research
Background: Bilateral congenital upper eyelid eversion is a rare but visually alarming condition that presents at birth and is often associated with systemic disorders such as lamellar ichthyosis.
Sangameshwarayya B. Salimath, Saket Rajesh Gandhi, T. M. Poonam   +2 more
doaj   +1 more source

Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase

, 1995
We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis.
Rettler, Irmingard, Huber, Marcel, Wyss, Myriam, Bernasconi, Katja, Hohl, Daniel   +4 more
core   +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

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  

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

Refractory Trichophyton rubrum infection in Lamellar Ichthyosis

, 2013
A 10-month-old boy with congenital lamellar ichthyosis presented with a chronic Trichophyton rubrum infection. There was no history of atopy or immunosuppression, and examination revealed high total immunoglobulin E (IgE) with a positive specific IgE for
Scheers, Christel, Harag, Saadia, Kolivras, Athanassios, Thompson, Curtis T, André, Josette, Rebuffat, Elisabeth   +5 more
core   +1 more source

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

, 1995
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity.
Huber, M., Lavrijsen, S. P., Ponec, M., Bernasconi, K., Lautenschlager, S., Rettler, I., Bon, A., Frenk, E., Hohl, D., Schorderet, D. F.   +9 more
core   +1 more source