Abstract

MENCIA-GUTIERREZ, E; GUTIERREZ-DIAZ, E; RICOY, JR  and  SAENZ-MADRAZO, N. Eyelid and cutaneous lesions as the sole indicators of tuberous sclerosis. Arch Soc Esp Oftalmol [online]. 2004, vol.79, n.8, pp.401-404. ISSN 0365-6691.

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.

Keywords : Tuberous sclerosis; Bourneville´s disease; angiofibroma; eyelid neoplasm.