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Diseases categorized as autoinflammatory keratinization diseases (AiKDs), and their pathologies and treatments.
Nagoya J Med Sci
February 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Article Synopsis
- Whole-exome and whole-genome sequencing have helped uncover the causes and mechanisms behind inflammatory keratinization diseases, leading to the classification of "autoinflammatory keratinization diseases (AiKDs)" since 2017.
- AiKDs are characterized by the abnormal activation of innate immunity in the skin, which results in hyperkeratosis and includes conditions like generalized pustular psoriasis and porokeratosis.
- The classification of AiKDs is evolving, as more diseases are identified under this category, enhancing our understanding of their underlying mechanisms and informing treatment options.
Human filaggrin monomer does not seem to be a proteasome target.
Exp Dermatol
January 2024
Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), University of Toulouse, CNRS, INSERM, UPS, Toulouse, France.
Article Synopsis
- * The study shows that when proteasome activity is inhibited in lab-grown skin, it causes a buildup of ubiquitinated proteins, reduced levels of filaggrin breakdown products (UCA and PCA), and a decrease in filaggrin itself.
- * Instead of accumulating filaggrin, the skin cells showed more signs of autophagy, suggesting that reduced filaggrin levels were due to decreased expression rather than a failure to break it down.
Editorial: Autoinflammatory Keratinization Disease (AiKD).
Front Immunol
April 2021
Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan.
KLICK Syndrome Linked to a Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.
Front Immunol
March 2021
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare autosomal recessive skin disorder characterized by palmoplantar keratoderma, linear hyperkeratotic plaques, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists. Histologically, the affected skin shows hypertrophy and hyperplasia of the spinous, granular, and horny epidermal layers with mild infiltration of inflammatory cells in the upper dermis. There are 14 patients with KLICK syndrome described in the literature, and they all carry the same nucleotide deletion.
View Article and Find Full Text PDFKLICK syndrome: an unusual phenotype.
Br J Dermatol
June 2018
Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Larrey, Paul Sabatier University, Toulouse, France.
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