Unilateral tuberous sclerosis complex

J Coll Physicians Surg Pak. 2004 Oct;14(10):628-30. doi: 10.2004/JCPSP.628630.

Abstract

Tuberous sclerosis is a rare genetic disease of autosomal dominant inheritance, associated with hamartomata formation in several organs and various skin findings. A case of young male is presented here with multiple fibromas on right side of his face, peri-ungual fibromas in right index and middle fingers and right second toe, a small shagreen plaque over right lower back and multiple, ill-defined hypopigmented patches over his right side of the trunk and right buttocks. Fundoscopic examination revealed retinal phacomas on right side. CT-scan brain showed right-sided paraventricular calcification.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Male
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / therapy