Epidermal Maturation Disorders

Abstract

Clinical: Most common ichthyosis due to autosomal dominant profilaggrin mutation that presents in childhood with fine, white dry scaling skin resembling “fish scales” on pretibial and other extensor surfaces with sparing of antecubital and popliteal flexural areas. May be seen in conjunction with atopic dermatitis (also associated with profilaggrin mutations). Acquired ichthyosis presents in adults, most typically in the lower extremities, otherwise, clinically and histologically similar to icthyosis vulgaris.