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

Evelyn Lilly; Christopher G Bunick

doi:10.2147/CCID.S388608

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

Clin Cosmet Investig Dermatol. 2023 Sep 11:16:2473-2479. doi: 10.2147/CCID.S388608. eCollection 2023.

Authors

Evelyn Lilly¹, Christopher G Bunick²

Affiliations

¹ Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.
² Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, New Haven, CT, 06520, USA.

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: JAK and TYK2 inhibitors; clinical management; cutaneous disease; genetic mutation; retinoids; skin care; topical and oral therapy.

Publication types

Review

Grants and 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.