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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 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.
Methods: We conducted searches on PubMed and for clinical trials, observational studies, case series, and case reports assessing use of the three IL-23 inhibitors for non-psoriatic dermatologic conditions.
Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.
J Clin Immunol
November 2024
Department of Pediatrics, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstraße 4 , Munich, European Union (EU), D-80337 , Germany.
Purpose: Netherton syndrome (NS) is a rare inborn error of immunity (IEI) with an incidence of approximately 1:200,000 and the phenotypic triad of trichorrhexis invaginate (bamboo hair), congenital ichthyosiform erythroderma, and multiple atopic manifestations. Treatment options especially in infants are scarce and generally not licensed.
Methods: Case report of a 9-week-old infant with NS treated with dupilumab off-label.
Biologics in congenital ichthyosis: are they effective?
Br J Dermatol
January 2025
Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Background: Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients' quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in congenital ichthyoses has raised the possibility of repurposing currently available biologics.
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