Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth

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David Jenkins1, Catherine McCuaig2, Beth A Drolet3

  • 1Dermatology Department, John Hunter Hospital, New Lambton, New South Wales, Australia. dwtjenkins@gmail.com.

Pediatric Dermatology
|July 30, 2016
PubMed
Abstract

Insights

Vascular anomalies and overgrowth are more common in tuberous sclerosis complex (TSC) than previously thought. Further research is needed to understand the shared pathways and treatments for these conditions.

Area of Science:

  • Genetics
  • Dermatology
  • Pathophysiology

Background:

  • Tuberous sclerosis complex (TSC) is characterized by mTOR pathway dysregulation.
  • Genetic alterations in this pathway can cause vascular anomalies and overgrowth.
  • These features are rarely documented in TSC.

Purpose of the Study:

  • To review published TSC cases with vascular anomalies or overgrowth.
  • To report additional recent cases of TSC with these manifestations.
  • To address the underreporting of these findings.

Main Methods:

  • Review of TSC cases from three pediatric dermatology centers.
  • Identification of individuals with hemihypertrophy or vascular anomalies.
  • Analysis of contributing pathways and treatments.

Main Results:

  • Five new cases of TSC associated with vascular anomalies or overgrowth were identified.
  • These cases enhance understanding of related pathways and treatments.
  • The findings suggest a potential link between TSC and these conditions.

Conclusions:

  • Hemihypertrophy and vascular anomalies may occur more frequently in TSC.
  • A common pathogenetic mechanism might link these TSC manifestations.
  • Further investigation into the prevalence and mechanisms is warranted.

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