Article
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis.
Pediatric dermatology - 1 Jan 2000
Polcari Ingrid, Becker Lauren, Stein Sarah L, Smith Marilyn S, Paller Amy S
Abstract excerpt
Atopic dermatitis (AD) and ichthyosis vulgaris (IV) are two common disorders of epidermal homeostasis resulting in dry skin. The profilaggrin gene, located on chromosome 1q22, encodes a keratin filament aggregating protein (filaggrin) that is essential to forming the epidermal barrier and maintaining hydration. Null mutations in filaggrin have been found to underlie IV and are common in patients with AD, but the...
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