Superficial epidermolytic ichthyosis: A report of two families

Tessa Cervantes, Catherine Pham, John C. Browning

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)469-472
Number of pages4
JournalPediatric dermatology
Volume30
Issue number4
DOIs
StatePublished - Jul 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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