title: Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo.
abstract: Clinical findings in vitiligo challenge the widely accepted organ specific autoimmune pathomechanisms. We draw the attention to the fact that the distribution of segmental vitiligo (SV) fits in at least a subset of patients a pattern usually associated with cutaneous mosaicism. The association of SV to non-segmental vitiligo (NSV) now confirmed by several observations indicates a continuum between the two subsets with shared predisposing genetic factors, including genes operating specifically in the skin. Some pedigrees associating SV and NSV further suggest a mechanism of loss of heterozygosity for a dominant gene controlling part of the cutaneous phenotype. The mosaic hypothesis applies only to SV and to the rare SV-NSV association, but suggests that predisposing genetic factors in common NSV should also be searched directly in the skin. SV would be a good candidate disease to explore as a proof of principle of a new gene discovery strategy useful for multigenic disorders with organ specificity, applicable in priority to chronic inflammatory skin disorders.
authors.affiliation: Service de Dermatologie et Dermatologie Pédiatrique, Centre de Référence des Maladies Rares de la Peau, CHU de Bordeaux, Bordeaux, France. alain.teieb@chu-bordeaux.fr
authors.forename: Alain
authors.initials: A
authors.lastname: Taïeb
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Thomas
authors.initials: T
authors.lastname: Jouary
authors.forename: Khaled
authors.initials: K
authors.lastname: Ezzedine
authors.forename: Muriel
authors.initials: M
authors.lastname: Cario-André
authors.forename: Yvon
authors.initials: Y
authors.lastname: Gauthier
mesh_terms: D006801:Humans; D008544:Melanocytes / Q000502:physiology; D009030:Mosaicism; D012880:Skin Pigmentation / Q000235:genetics*; D014820:Vitiligo / Q000235:genetics* / Q000473:pathology / Q000628:therapy