Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives

Abstract

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

Disclosure

CGB is a principal investigator in Timber’s TMB-001 phase 3 clinical trial, same as for the phase 2a and phase 2b trials. CGB reports personal fees from AbbVie, personal fees from Arcutis, grants from Almirall, personal fees from LEO Pharma, personal fees from Pfizer, personal fees from Eli Lilly, personal fees from UCB, personal fees from Novartis, personal fees from Sanofi-Regeneron, outside the submitted work. The authors report no other conflicts of interest in this work.

Additional information

Funding

This work was supported by the US National Institutes of Health (NIH)/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) under Award Number R01 AR079428 (to CGB). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.