Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth. Pediatr Dermatol 2016 Sep;33(5):536-42
Date
07/30/2016Pubmed ID
27470532DOI
10.1111/pde.12946Scopus ID
2-s2.0-84985930839 (requires institutional sign-in at Scopus site) 17 CitationsAbstract
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.
CONCLUSION: 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.
Author List
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon OMESH terms used to index this publication - Major topics in bold
AdolescentAge Distribution
Comorbidity
Everolimus
Female
Genetic Predisposition to Disease
Humans
Incidence
Infant
Mutation
Prognosis
Risk Assessment
Sampling Studies
Severity of Illness Index
Sex Distribution
Sirolimus
Treatment Outcome
Tuberous Sclerosis
Tumor Suppressor Proteins
Vascular Malformations
