Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene

Abstract

Thirty-four-year-old monozygotic twin sisters were referred to our lipid clinic for investigation of a severe form of oily ichthyosis of 9 years’ duration (twin 1) and 18 years’ duration (twin 2). On examination, we found skin with sticky white patches and oily tears, saliva, and nasopharyngeal secretions (Figure). In twin 1, lesions had flared up following the rejection of a polyurethane mammary implant, and hyperkeratosis appeared 1 year later. A facial dermabrasion for acne resulted in massive oily exudation in sun-exposed areas, extending to her neck, thorax, legs, arms, and abdomen in the form of yellowish lesions around hair follicles.