title: [Hailey-Hailey disease. Early detection of heterozygotes by an ultraviolet provocation tests--clinical relevance of the method].
abstract: An UV provocative test to identify genotypical carriers of Hailey-Hailey disease was developed, and performed on 30 non-affected family members of 8 families. The test revealed that 10 individuals were genotypical carriers without clinical signs. We checked the reliability of the UV provocative test during a 3-year follow-up period (family register method). In 50% of the carriers identified by the UV provocative test the first clinical manifestations of Hailey-Hailey disease developed in this period. All individuals with negative UV provocative test results remained clinically healthy. Up to now our results with the UV provocative test have been verified by the clinical development in 80% of cases. The UV provocative test is a practicable and reliable method of determining genotypical carriers of Hailey-Hailey disease.
authors.affiliation: Klinik und Poliklinik für Hautkrankheiten, Medizinische Hochschule Erfurt.
authors.forename: G
authors.initials: G
authors.lastname: Richard
authors.forename: R
authors.initials: R
authors.lastname: Linse
authors.forename: W
authors.initials: W
authors.lastname: Harth
mesh_terms: D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012307:Risk Factors; D012867:Skin / Q000473:pathology; D014466:Ultraviolet Rays
vernacular_title: Morbus Hailey-Hailey. Früherfassung von Merkmalsträgern durch einen UV-Provokationstest--klinische Relevanz der Methode.