title: Superficial epidermolytic ichthyosis: a report of two families.
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.
authors.affiliation: Division of Dermatology and Cutaneous Surgery, University of Texas Health Science Center at San Antonio, San Antonio, Texas 77229, USA.
authors.forename: Tessa
authors.initials: T
authors.lastname: Cervantes
authors.forename: Catherine
authors.initials: C
authors.lastname: Pham
authors.forename: John C
authors.initials: JC
authors.lastname: Browning
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis* / Q000235:genetics*; D053560:Ichthyosis Bullosa of Siemens / Q000175:diagnosis* / Q000235:genetics*; D053557:Keratin-2 / Q000235:genetics*; D008297:Male
chemical_list: C089241:KRT2 protein, human; D053557:Keratin-2