title: Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.
abstract: BACKGROUND
  Dysregulation of the mammalian target of rapamycin pathway is the underlying pathogenic mechanism in tuberous sclerosis complex (TSC). Other syndromes caused by genetic alterations in this pathway frequently manifest as vascular anomalies or asymmetric overgrowth. Rarely, these features have been documented in TSC.
  
  
  OBJECTIVE
  To collate cases of TSC with vascular anomaly or overgrowth that have been published and to assemble additional recent cases, as this finding has been underreported.
  
  
  METHODS
  TSC cases from three pediatric dermatology referral centers on two continents were reviewed to identify individuals noted to have hemihypertrophy or vascular anomalies.
  
  
  RESULTS
  We report five additional cases of TSC associated with vascular anomalies or overgrowth that contribute to our understanding of some of the pathways and treatments involved in vascular anomalies.
  
  
  CONCLUSIONS
  Hemihypertrophy and vascular anomalies may be more frequent in the setting of TSC than previously appreciated. A common pathogenetic mechanism may tie these manifestations together.
authors.affiliation: Dermatology Department, John Hunter Hospital, New Lambton, New South Wales, Australia. dwtjenkins@gmail.com.
authors.forename: David
authors.initials: D
authors.lastname: Jenkins
authors.affiliation: Department of Pediatric Dermatology, Dermatology Service, CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Catherine
authors.initials: C
authors.lastname: McCuaig
authors.affiliation: Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Beth A
authors.initials: BA
authors.lastname: Drolet
authors.affiliation: Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Dawn
authors.initials: D
authors.lastname: Siegel
authors.affiliation: Sydney Children's Hospital, Randwick, New South Wales, Australia.
authors.forename: Susan
authors.initials: S
authors.lastname: Adams
authors.affiliation: Sydney Children's Hospital, Randwick, New South Wales, Australia.
authors.forename: John A
authors.initials: JA
authors.lastname: Lawson
authors.affiliation: Sydney Children's Hospital, Randwick, New South Wales, Australia.|University of New South Wales, Randwick, New South Wales, Australia.
authors.forename: Orli
authors.initials: O
authors.lastname: Wargon
mesh_terms: D000293:Adolescent; D017677:Age Distribution; D015897:Comorbidity; D000068338:Everolimus / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D009154:Mutation; D011379:Prognosis; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index; D017678:Sex Distribution; D020123:Sirolimus / Q000627:therapeutic use; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D054079:Vascular Malformations / Q000175:diagnosis* / Q000188:drug therapy / Q000453:epidemiology* / Q000235:genetics
chemical_list: D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins; D000068338:Everolimus; D020123:Sirolimus