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Evelyn Lilly,1 Christopher G Bunick2 1Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA; 2Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, New Haven, CT, 06520, USACorrespondence: Christopher G Bunick, Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, 333 Cedar Street, LCI 501, PO Box 208059, New Haven, CT, 06520-8059, USA, Tel +1-203-785-4092, Fax +1-203-785-7637, Email christopher.bunick@yale.edu Evelyn Lilly, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, 50 Staniford Street, Ste 200, Boston, MA, 02114, USA, Tel +1-617-643-8618, Fax +1-617-724-2745, Email elilly1@mgh.harvard.eduAbstract: Congenital ichthyoses are a group of hereditary disorders of keratinization that are challenging to treat. Affected individuals suffer not only from thickening of the skin but also associated complications such as growth restriction, hearing and eye complications, infections, and thermodysregulation. This clinical review provides a practical roadmap to the longitudinal care of patients with ichthyosis with both general and age- and disease-specific recommendations. The allure of pathogenesis-based and targeted treatments for these monogenetic severe but orphan conditions shines bright as dermatological therapies enter a new era.Keywords: cutaneous disease, genetic mutation, skin care, clinical management, topical and oral therapy, JAK and TYK2 inhibitors, retinoids |
