title: Discordant expression of tuberous sclerosis in monozygotic twins.
abstract: A set of 20-year-old female Japanese twins, most probably monozygotic, had clinical evidence of tuberous sclerosis (TS). They were discordant for symptoms. One of the twins exhibited facial red-brown papules (adenoma sebaceum), a dorsal shagreen patch, intracerebral calcifications, angiomyolipoma in the right kidney, and hypopigmented macules; the other had only a few hypopigmented macules. Modification of TS gene expression by the effects of environmental (extrinsic) factors is suggested.
authors.affiliation: Department of Dermatology, Yamagata University, School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kondo
authors.forename: U
authors.initials: U
authors.lastname: Yamashina
authors.forename: N
authors.initials: N
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Aso
mesh_terms: D000328:Adult; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D010375:Pedigree; D014402:Tuberous Sclerosis / Q000235:genetics*; D014430:Twins, Monozygotic