title: Lifelong scaling and blistering in a family.
abstract: Ichthyosis bullosa of Siemens is a genodermatosis, which presents in childhood with mild blistering and hyperkeratosis. The heterogeneous clinical presentation may lead to misdiagnosis, even in the presence of a strong family history. Genetic testing and counselling may help in diagnosis and treatment.
authors.affiliation: Dermatological Sciences, University of Manchester, Salford Royal NHS Foundation Trust, Stott Lane, Salford M6 8HD, UK. ewan.langan@postgrad.manchester.ac.uk
authors.forename: E A
authors.initials: EA
authors.lastname: Langan
authors.forename: L A
authors.initials: LA
authors.lastname: Jamieson
authors.forename: M
authors.initials: M
authors.lastname: Judge
mesh_terms: D001706:Biopsy; D001768:Blister / Q000473:pathology*; D002648:Child; D005192:Family Health; D006801:Humans; D053560:Ichthyosis Bullosa of Siemens / Q000473:pathology*; D007223:Infant; D007642:Keratosis / Q000473:pathology*; D008297:Male