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.

Oral Retinoid Treatment in a Newborn With Lamellar Ichthyosis

“…Systemic retinoic acid (0.5-1 mg/kg/day) treatment has been reported to provide dramatic benefit in severe forms of ichthyosis including LI and congenital ichthyosiform erythroderma. [6] CONCLUSION Lamellar ichthyosis is a dramatic picture for the family and the physician, which may progress with fatal complications. It should be kept in mind that a successful neonatal intensive care process with a multidisciplinary approach and retinoic acid treatment may lead to long-term survival.…”