Angiofibromas with multiple epidermoid cysts in tuberous sclerosis: new mutation or post-traumatic?

J Cutan Pathol. 2013 May;40(5):509-12. doi: 10.1111/cup.12103. Epub 2013 Feb 19.

Abstract

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs. Clinically, more than 90% of affected patients have skin lesions including facial angiofibromas, periungual fibromas, hypomelanotic macule, etc. Periungual fibroma is one of the major diagnostic criteria of tuberous sclerosis and has the same pathology (angiofibroma) as the facial papules. We herein describe an interesting histologic variant of angiofibromas coupled with multiple epidermoid cysts in a 33-year-old patient with tuberous sclerosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angiofibroma / genetics*
  • Angiofibroma / pathology
  • Epidermal Cyst / genetics*
  • Epidermal Cyst / pathology
  • Hamartoma / genetics*
  • Hamartoma / pathology
  • Humans
  • Male
  • Mutation*
  • Nails / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis / pathology