Type 1 segmental manifestation of Hailey-Hailey disease.
Publication/Presentation Date
10-1-2003
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.
Volume
49
Issue
4
First Page
712
Last Page
714
ISSN
0190-9622
Published In/Presented At
Hwang, L. Y., Lee, J. B., Richard, G., Uitto, J. J., & Hsu, S. (2003). Type 1 segmental manifestation of Hailey-Hailey disease. Journal of the American Academy of Dermatology, 49(4), 712–714. https://doi.org/10.1067/s0190-9622(03)00847-8
Disciplines
Medicine and Health Sciences
PubMedID
14512922
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article