Treatment of rare keratinization disorders: what’s new?

Abstract

Disorders of keratinization encompass a wide variety of monogenic skin diseases characterized by inheritable disturbances in the differentiation of epidermal keratinocytes leading to hyperkeratosis and/or epidermal fragility. Over the last decade, many new etiologies have been found for these diseases, but until recently this has not been paralleled by a similar good progress in therapy. The purpose of this article is to review the treatment of three groups of disorders of keratinization: congenital ichthyoses due to autosomal-recessive inheritance (e.g., lamellar ichthyosis and ichthyosiform erythroderma); keratinopathies due to dominant-negative keratin mutations (epidermolytic ichthyosis, epidermolysis bullosa simplex and pachyonychia congenita); and acantholytic diseases due to autosomal-dominant disorders of cell adhesion (Darier–White and Hailey–Hailey diseases). Recent advances in the use of keratolytic agents, retinoids, botulinum toxin and molecular biology techniques are discussed. In conclusion, there is reason for optimism among patients with keratinization disorders as there are now an increasing number of improved therapeutic strategies.