Síndrome de Gorlin (Síndrome Nevoide Basocelular)

  1. B. De-Domingo
  2. F. González
  3. P. Lorenzo
Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2008

Volume: 83

Issue: 5

Pages: 321-324

Type: Article

DOI: 10.4321/S0365-66912008000500008 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Archivos de la Sociedad Española de Oftalmologia

Sustainable development goals

Abstract

Clinical case: A 77 year-old male patient with Parkinson’s disease and senile dementia had many facial basal cell carcinomas and an ectropion of the left eye. When he experienced respiratory difficulty he was diagnosed to have an ameloblastoma in left nostril requiring surgery. Discussion: Gorlin syndrome is an autosomal dominant condition characterized by basal cell carcinomas, and skeletal and neurological anomalies. The presence of multiple basal cell carcinomas on the eyelids in a child or in a young patient should alert ophthalmologists to the possibility of this syndrome.

Bibliographic References

  • Ragge, NK, Salt, A, O Collin, JR, Michalski, A, Farndon, PA. (2005). Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation. Br J Ophthalmol. 89. 988-991
  • Anh, SG, Lim, YS, Kim, DK, Lee, SH, Yoon, JH. (2004). Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected korean individuals. Int J Oral Maxillofac Surg. 33. 458-462
  • Lo Muzio, L, Nocini, P, Bucci, P, Pannone, G, Consolo, U, Procaccini, M. (1999). Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc. 130. 669-674
  • Honavar, SG, Shields, JA, Shields, CL, Eagle, RC Jr, Demirci, H, Mahmood, EZ. (2001). Basal cell carcinoma of the eyelid associated with Gorlin-Goltz syndrome. Ophthalmology. 108. 1115-1123
  • Scott, A, Strouthidis, NG, Robson, AG, Forsyth, J, Maher, ER, Schlottmann, PG. (2007). Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation. Am J Ophthalmol. 143. 346-348