title: Keloids in Rubinstein-Taybi syndrome: a clinical study.
abstract: BACKGROUND
  Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies-intellectual disability syndrome. One of the complications is keloid formation. Keloids are proliferative fibrous growths resulting from excessive tissue response to skin trauma.
  
  
  OBJECTIVE
  To describe the clinical characteristics of keloids in individuals with RSTS reported in the literature and in a cohort of personally evaluated individuals with RSTS.
  
  
  METHODS
  We performed a literature search for descriptions of RSTS individuals with keloids. All known individuals with RSTS in the Netherlands filled out three dedicated questionnaires. All individuals with (possible) keloids were personally evaluated. A further series of individuals with RSTS from the U.K. was personally evaluated.
  
  
  RESULTS
  Reliable data were available for 62 of the 83 Dutch individuals with RSTS and showed 15 individuals with RSTS (24%) to have keloids. The 15 Dutch and 12 U.K. individuals with RSTS with keloids demonstrated that most patients have multiple keloids (n > 1: 82%; n > 5: 30%). Mean age of onset is 11·9 years. The majority of keloids are located on the shoulders and chest. The mean length × width of the largest keloid was 7·1 × 2·8 cm, and the mean thickness was 0·7 cm. All affected individuals complained of itching. Generally, treatment results were disappointing.
  
  
  CONCLUSIONS
  Keloids occur in 24% of individuals with RSTS, either spontaneously or after a minor trauma, usually starting in early puberty. Management schedules have disappointing results. RSTS is a Mendelian disorder with a known molecular basis, and offers excellent opportunities to study the pathogenesis of keloids in general and to search for possible treatments.
authors.affiliation: Department of Plastic Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, 1105 AZ, The Netherlands; Department of Plastic Surgery, Onze Lieve Vrouwe Gasthuis, Amsterdam, The Netherlands.
authors.forename: A L
authors.initials: AL
authors.lastname: van de Kar
authors.forename: G
authors.initials: G
authors.lastname: Houge
authors.forename: A C
authors.initials: AC
authors.lastname: Shaw
authors.forename: D
authors.initials: D
authors.lastname: de Jong
authors.forename: M J
authors.initials: MJ
authors.lastname: van Belzen
authors.forename: D J M
authors.initials: DJ
authors.lastname: Peters
authors.forename: R C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D017668:Age of Onset; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007627:Keloid / Q000209:etiology / Q000473:pathology*; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000209:etiology / Q000473:pathology*; D011795:Surveys and Questionnaires; D055815:Young Adult