Annular epidermolytic ichthyosis: a unique phenotype

Abstract

A 30-year-old white woman developed bullous and ichthyosiform skin lesions at the age of 8 months. Blistering ceased at puberty, but the hyperkeratotic plaques persisted. She subsequently delivered five children, two of whom were affected with a bullous type of ichthyosis. At the age of 27 years, she developed numerous annular and polycyclic, erythematous, hyperkeratotic plaques on the trunk and extremities that were pruritic, enlarged slowly, and then resolved. Histopathologic examination of these annular plaques revealed epidermolytic hyperkeratosis. Electron microscopic examination of the annular plaques showed interrupted perinuclear tonofilament rings consistent with either bullous ichthyotic erythroderma of Brocq or ichthyosis bullosa of Siemens. This kindred may represent a new phenotype of epidermolytic (acanthokeratolytic) ichthyosis.