title: Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.
abstract: A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs, histopathological descriptions and blood samples for mutational analysis. Sixteen patients from 12 families with generalized or naevoid epidermolytic ichthyosis and ichthyosis bullosa of Siemens were identified. Five families had mutations in K1 and 6 families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, acitretin, isotretinoin or alitretinoin), but only 3 patients had acceptable treatment responses and chose to continue therapy. In conclusion epidermolytic ichthyosis is a rare disease with a prevalence of approximately 1 in 350,000 in Denmark and a high percentage of de novo mutations (75%). We identified 4 novel disease-causing mutations.
authors.affiliation: Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark. anette.bygum@ouh.regionsyddanmark.dk
authors.forename: Anette
authors.initials: A
authors.lastname: Bygum
authors.forename: Marie
authors.initials: M
authors.lastname: Virtanen
authors.forename: Flemming
authors.initials: F
authors.lastname: Brandrup
authors.forename: Agneta
authors.initials: A
authors.lastname: Gånemo
authors.forename: Mette
authors.initials: M
authors.lastname: Sommerlund
authors.forename: Gitte
authors.initials: G
authors.lastname: Strauss
authors.forename: Anders
authors.initials: A
authors.lastname: Vahlquist
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003718:Denmark / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D007223:Infant; D053556:Keratin-1 / Q000235:genetics*; D053550:Keratin-10 / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D012176:Retinoids / Q000627:therapeutic use; D012867:Skin / Q000187:drug effects / Q000473:pathology*; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C491616:KRT1 protein, human; C507493:KRT10 protein, human; D053556:Keratin-1; D012176:Retinoids; D053550:Keratin-10