Keloids in Rubinstein-Taybi syndrome: a clinical study

Autor: Raoul C.M. Hennekam, A. L. van de Kar, M. J. van Belzen, A C Shaw, D de Jong, Gunnar Houge, Dorien J.M. Peters
Přispěvatelé: Pathology, CCA - Innovative therapy, ACS - Amsterdam Cardiovascular Sciences, Other Research, Graduate School, Plastic, Reconstructive and Hand Surgery, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics
Rok vydání: 2014
Předmět:
Zdroj: British Journal of Dermatology, 171(3), 615-621. Wiley-Blackwell
British Journal of Dermatology, 171(3), 615-621
British journal of dermatology, 171(3), 615-621. Wiley-Blackwell
British Journal of Dermatology
van de Kar, A L, Houge, G, Shaw, A C, de Jong, D, van Belzen, MJ, Peters, D J M & Hennekam, R C M 2014, ' Keloids in Rubinstein-Taybi syndrome: a clinical study ', British Journal of Dermatology, vol. 171, no. 3, pp. 615-621 . https://doi.org/10.1111/bjd.13124
ISSN: 0007-0963
DOI: 10.1111/bjd.13124
Popis: 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.
Databáze: OpenAIRE
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