Discordant expression of tuberous sclerosis in monozygotic twins |
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Authors: | S Kondo U Yamashina N Sato K Aso |
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Affiliation: | Department of Dermatology, Yamagata University, School of Medicine, Japan. |
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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. |
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Keywords: | tuberous sclerosis monozygotic twins extrinsic factor discordance |
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