[Tuberous sclerosis in childhood]

Dermatol Online J. 2008 Sep 15;14(9):14.
[Article in Portuguese]

Abstract

Tuberous sclerosis is an autosomal dominant disease that results from mutations in one of two tumor suppressor genes, TSC1 and TSC2. We are reporting a two-year-old girl who presented with hypopigmented macules (ash leaf) in the skin and small erythematous facial papules (angiofibromas). Her mother was known to have tuberous sclerosis that was diagnosed at age seven. Although the signs of tuberous sclerosis were specifically looked for in this patient because of her mother, subtle angiofibromas in a young child can be easily missed.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Angiofibroma / etiology*
  • Child, Preschool
  • Facial Neoplasms / etiology*
  • Female
  • Frontal Lobe / diagnostic imaging
  • Frontal Lobe / pathology
  • Humans
  • Hypopigmentation / etiology
  • Magnetic Resonance Imaging
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / pathology