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  • Title: [Tuberous sclerosis in childhood].
    Author: Pires CF, Anunciação GM, De Sousa WL, Santos BM, Anunciação FA, Pires AF, Pires LF.
    Journal: Dermatol Online J; 2008 Sep 15; 14(9):14. PubMed ID: 19061596.
    Abstract:
    Tuberous sclerosis is an autosomal dominant disease that results from mutations in one of two tumor suppressor genes, TSC1 and TSC2. We are reporting a two-year-old girl who presented with hypopigmented macules (ash leaf) in the skin and small erythematous facial papules (angiofibromas). Her mother was known to have tuberous sclerosis that was diagnosed at age seven. Although the signs of tuberous sclerosis were specifically looked for in this patient because of her mother, subtle angiofibromas in a young child can be easily missed.
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