Discordant expression of tuberous sclerosis in monozygotic twins.
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.
Kondo
S
S
Department of Dermatology, Yamagata University, School of Medicine, Japan.
Yamashina
U
U
Sato
N
N
Aso
K
K
D000328:Adult; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D010375:Pedigree; D014402:Tuberous Sclerosis / Q000235:genetics*; D014430:Twins, Monozygotic