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

Summary: 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. Objectives: 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. Patients and 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. Abstract : What's already known about this topic? Individuals with Rubinstein–Taybi syndrome (RSTS) have an increased likelihood of developing keloid scars. RSTS is caused by mutations in the histone acetyltransferase genes, CREBBP or EP300 . Keloids are proliferative fibrous growths and can cause extensive itching. What does this study add? This study found that 24% of individuals with RSTS from a single country develop keloids. We describe age of onset, site, natural clinical course and reaction to various medical treatment schedules. RSTS is the most common Mendelian disorder in which keloids occur with a high frequency.