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.
Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21.
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.
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.
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.
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.
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.
Rubinstein-Taybi 综合征（RSTS）是一种多发先天畸形-智力障碍综合征。其并发症之一是瘢痕疙瘩形成。瘢痕疙瘩是由于皮肤创伤导致组织过度反应而引起的增生性纤维生长。
描述文献中报道的 RSTS 患者和经个人评估的 RSTS 患者队列中瘢痕疙瘩的临床特征。
我们对描述 RSTS 患者伴有瘢痕疙瘩的文献进行了检索。荷兰所有已知的 RSTS 患者都填写了三份专门的问卷。所有（疑似）有瘢痕疙瘩的 RSTS 患者均进行了个人评估。来自英国的另一系列 RSTS 患者也进行了个人评估。
荷兰 83 名 RSTS 患者中有 62 名患者的可靠数据可用，其中 15 名（24%）患者有瘢痕疙瘩。这 15 名荷兰患者和 12 名英国患者中，大多数患者有多发性瘢痕疙瘩（> 1 个：82%；> 5 个：30%）。发病年龄的中位数为 11.9 岁。大多数瘢痕疙瘩位于肩部和胸部。最大瘢痕疙瘩的平均长×宽为 7.1×2.8cm，平均厚度为 0.7cm。所有受影响的患者都主诉瘙痒。一般来说，治疗效果令人失望。
RSTS 患者中有 24%出现瘢痕疙瘩，要么是自发性的，要么是在轻微创伤后出现，通常在青春期早期开始。治疗方案的效果不尽如人意。RSTS 是一种孟德尔疾病，具有已知的分子基础，为研究一般瘢痕疙瘩的发病机制以及寻找可能的治疗方法提供了极好的机会。
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