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  • Title: [Eyelid and cutaneous lesions as the sole indicators of tuberous sclerosis].
    Author: Mencía-Gutiérrez E, Gutiérrez-Díaz E, Ricoy JR, Sánez-Madrazo N.
    Journal: Arch Soc Esp Oftalmol; 2004 Aug; 79(8):401-4. PubMed ID: 15306968.
    Abstract:
    CASE REPORT: A 53-year old woman presented a tuberous sclerosis complex (Bourneville's disease) characterised by facial cutaneous angiofibromas, periungual fibromas and cutaneous leaf-shaped macules in the thorax. She also presented two neoplasms in the left lower eyelid which were histopathologically diagnosed as angiofibromas. There were no other ophthalmologic or systemic findings. DISCUSSION: Tuberous sclerosis complex is an autosomical dominant neurocutaneous phakomatosis in which up to 80% of cases represent new mutations, characterized by mental retardation, epilepsy and angiofibromas. Incidence is very low and ophthalmic presentation with isolated cutaneous angiofibromas is most unusual.
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