Ichthyosis.

Autor: Gutiérrez-Cerrajero C; Department of Medicine, Faculty of Medicine, University of Salamanca, Salamanca, Spain.; Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain., Sprecher E; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Paller AS; Departments of Dermatology and Paediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Mazereeuw-Hautier J; Centre for Rare Skin Diseases, Dermatology Department, Larrey Hospital, Toulouse, France., Hernández-Martín A; Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain. ahernandez@aedv.es., González-Sarmiento R; Department of Medicine, Faculty of Medicine, University of Salamanca, Salamanca, Spain.; Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain.
Jazyk: angličtina
Zdroj: Nature reviews. Disease primers [Nat Rev Dis Primers] 2023 Jan 19; Vol. 9 (1), pp. 2. Date of Electronic Publication: 2023 Jan 19.
DOI: 10.1038/s41572-022-00412-3
Abstrakt: The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation. Disordered cornification is clinically characterized by skin scaling with various degrees of thickening, desquamation (peeling) and erythema (redness). Regardless of the type of ichthyosis, many patients suffer from itching, recurrent infections, sweating impairment (hypohidrosis) with heat intolerance, and diverse ocular, hearing and nutritional complications that should be monitored periodically. The characteristic clinical features are considered to be a homeostatic attempt to repair the skin barrier, but heterogeneous clinical presentation and imperfect phenotype-genotype correlation hinder diagnosis. An accurate molecular diagnosis is, however, crucial for predicting prognosis and providing appropriate genetic counselling. Most ichthyoses severely affect patient quality of life and, in severe forms, may cause considerable disability and even death. So far, treatment provides only symptomatic relief. It is lifelong, expensive, time-consuming, and often provides disappointing results. A better understanding of the molecular mechanisms that underlie these conditions is essential for designing pathogenesis-driven and patient-tailored innovative therapeutic solutions.
(© 2023. Springer Nature Limited.)
Databáze: MEDLINE
Externí odkaz: