Lesiones palpebrales y cutáneas como única manifestación de esclerosis tuberosa

  1. E Mencía-Gutiérrez
  2. E Gutiérrez-Díaz
  3. JR Ricoy
  4. N Saenz-Madrazo
Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2004

Volume: 79

Issue: 8

Pages: 401-404

Type: Article

DOI: 10.4321/S0365-66912004000800009 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Archivos de la Sociedad Española de Oftalmologia

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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Data source: Dialnet