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Harlequin ichthyosis is a rare skin disorder affecting newborns characterized by a scaly skin, flexed limbs, ectropium, and eclabium. The overall incidence of HI is 1 in 300,000 births, with approximately only 200 cases reported worldwide. Some studies uncovered a TH17 immune skewing in patients with HI, which is also seen in psoriasis.
View Article and Find Full Text PDFLiver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.
Exp Clin Transplant
December 2024
>From the Department of Anesthesia and Intensive Care, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder characterized by congenital ichthyosis and lipid droplet accumulation in various organs, including the liver, muscles, and skin. The accumulation of lipids in the liver can lead to cirrhosis, liver failure, and even hepatocellular carcinoma. Here, we present a 17-year-old girl who underwent a deceased donor liver transplant to treat uncompensated cirrhosis due to Chanarin-Dorfman syndrome.
View Article and Find Full Text PDFGut bacterial sphingolipid production modulates dysregulated skin lipid homeostasis.
bioRxiv
December 2024
Divison of Nutritional Sciences, Cornell University, Ithaca, NY, USA.
Sphingolipids are an essential lipid component of the skin barrier with alterations in skin sphingolipid composition associated with multiple skin disorders including psoriasis, atopic dermatitis, and ichthyosis. Contributions to skin sphingolipid abundance are not well characterized, thus the main method of modulating skin lipid levels is the topical application of creams rich with sphingolipids at the skin surface. Evidence that diet and gut microbiome function can alter skin biology proposes an intriguing potential for the modulation of skin lipid homeostasis through gut microbial metabolism, but potential mechanisms of action are not well understood.
View Article and Find Full Text PDFGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFAging Skin: A Dermatitis To Which All Flesh Is Heir?
J Cutan Pathol
January 2025
Program in Dermatopathology, Department of Pathology, Brigham and Women's Hospital/Mass General Brigham, Boston, Massachusetts, USA.
The human body is composed mostly of water fortified by a variety of proteins, fats, carbohydrates, vitamins, minerals, and other nutrients, all organized into an elegant structurally complex and functionally efficient machine in which our consciousness resides. This heterogeneous assemblage of essential ingredients is enclosed in a container known as the integument, or simply, the skin. The container is as important as its contents; when itself devoid of structural and functional integrity, it will both leak as well as become infused with potentially harmful external agents.
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