title: Type 1 segmental manifestation of Hailey-Hailey disease.
abstract: Two types of mosaic manifestations can be distinguished in autosomal dominant skin disorders. A type-1 mosaicism reflects a localized postzygotic mutation in an otherwise normal embryo. This mutation leads to a localized population of heterozygous cells, resulting in segmental disease. In contrast, a type-2 mosaicism represents a postzygotic mutation eliminating the normal allele at a gene locus, for which the embryo carries a dominant heterozygous germline mutation. The corresponding phenotype is characterized by segmental lesions superimposed on "classical" disease. The authors describe the clinical and histopathologic aspects of the first case of type-1 segmental manifestation of Hailey-Hailey disease.
mesh_terms: D000368:Aged; D004804:Eosinophils / Q000473:pathology; D005260:Female; D006801:Humans; D009030:Mosaicism; D016506:Pemphigus, Benign Familial / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology