We describe a patient with ichthyosiform erythroderma as a manifestation of sarcoidosis. This is the first report of the simultaneous occurrence of erythroderma and ichthyosis in sarcoidosis.
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Liver 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 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 PDFA novel variant c.7104 + 6T > A of linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.
Front Pediatr
December 2024
Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.
Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the gene.
View Article and Find Full Text PDFOff-label dermatologic uses of IL-23 inhibitors.
J Dermatolog Treat
December 2024
Department of Dermatology, University of Illinois College of Medicine, Chicago, IL, USA.
Background: While IL-23 inhibitors, which include guselkumab, tildrakizumab, and risankizumab, are currently FDA-approved solely for the treatment of psoriasis, several other inflammatory skin conditions have been associated with elevated IL-23 levels. The purpose of this review is to summarize and interpret the literature surrounding the off-label uses of IL-23 inhibitors in dermatologic practice.
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Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.
J Clin Immunol
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Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstraße 4 , Munich, European Union (EU), D-80337 , Germany.
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