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Superficial Epidermolytic Ichthyosis: A Report of Two Families

Authors

  • Tessa Cervantes B.S.,

    1. Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas
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  • Catherine Pham M.D.,

    1. Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas
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  • John C. Browning M.D.

    1. Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas
    2. Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas
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Address correspondence to John C. Browning, M.D., Division of Dermatology and Department of Pediatrics, University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, MSC 7808, San Antonio, TX 77229, USA, or e-mail: JohnBrowningMD@yahoo.com.

Abstract

Abstract:  Superficial epidermolytic ichthyosis (SEI), previously known as ichthyosis bullosa of Siemens, is a rare genetic skin condition, characterized by blisters and hyperkeratosis. It can be easily confused with epidermolytic hyperkeratosis, known now as epidermolytic ichthyosis, and genetic testing can be helpful in differentiating between the two conditions. We describe two children with SEI confirmed by genetic testing, including one with a novel mutation. We also describe other affected family members with SEI.

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