Keloids in Rubinstein–Taybi syndrome: a clinical study. (21st August 2014)

• Record Type: Journal Article
• Authors: van de Kar, A.L.; Houge, G.; Shaw, A.C.; de Jong, D.; van Belzen, M.J.; Peters, D.J.M.; Hennekam, R.C.M.
• Is Part Of: British journal of dermatology. Volume 171:Number 3(2014:Sep.)
• Page Start: 615
• Page End: 621
• Publication Date: 2014-08-21
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.13124
• Languages: English
• ISSNs: 0007-0963

Abstract

<abstract abstract-type="main" id="bjd13124-abs-0001"> <title>Summary</title> <sec id="bjd13124-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="bjd13124-sec-0002" sec-type="section"> <title>Objectives</title> <p>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.</p> </sec> <sec id="bjd13124-sec-0003" sec-type="section"> <title>Patients and methods</title> <p>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.</p> </sec> <sec id="bjd13124-sec-0004" sec-type="section"> <title>Results</title> <p>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 (<italic>n</italic> > 1: 82%; <italic>n</italic> > 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.</p> </sec> <sec id="bjd13124-sec-0005" sec-type="section"> <title>Conclusions</title> <p>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.</p> </sec> </abstract>