The cutaneous manifestations of tuberous sclerosis complex

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):321-325. doi: 10.1002/ajmg.c.31649. Epub 2018 Sep 23.

Abstract

Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis.

Keywords: tuberous sclerosis.

Publication types

  • Review

MeSH terms

  • Angiofibroma / etiology
  • Angiofibroma / pathology
  • Face / pathology
  • Facial Neoplasms / etiology
  • Facial Neoplasms / pathology
  • Fibroma / pathology
  • Hamartoma / etiology
  • Hamartoma / pathology
  • Humans
  • Nail Diseases / pathology
  • Skin Diseases / diagnosis
  • Skin Diseases / etiology
  • Skin Diseases / pathology*
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / pathology*