Department of Dermatology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.
National Office for Maternal and Child Health Surveillance of China, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Clin Exp Dermatol. 2019 Jul;44(5):e205-e208. doi: 10.1111/ced.13871. Epub 2019 Jan 6.
Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with RSTS while there has been no report of desquamation so far in any patients with RSTS. We report an unusual case of RSTS in an 8-year-old boy who presented with the typical facial and limb abnormalities of RSTS accompanied with apparent hirsutism and desquamation, but without apparent intellectual disability. Whole exome sequencing identified a novel mutation in the bromodomain of CREBBP (c.3503A>G, p.N1168S), which was further confirmed by targeted Sanger sequencing in comparison with healthy controls. Our findings expand the spectra of genetic mutations and clinical presentations associated with RSTS, and underline the importance of maintaining high awareness of rare presentations and diagnostic difficulties in management of rare genetic diseases such as RSTS.
鲁宾斯坦-泰比综合征（RSTS）是一种罕见的先天性疾病，主要表现为出生后生长迟缓、智力障碍和面部及四肢异常。尽管不被认为是特征性表现，但已有大量 RSTS 患者存在皮肤异常的报道，而目前尚无任何 RSTS 患者出现脱皮的报道。我们报告了一例 8 岁男孩的不典型 RSTS 病例，该患儿表现为典型的 RSTS 面部和四肢异常，伴有明显的多毛症和脱皮，但无明显智力障碍。全外显子组测序发现 CREBBP 溴结构域的一个新突变（c.3503A>G，p.N1168S），与健康对照相比，通过靶向 Sanger 测序进一步证实了该突变。我们的发现扩展了与 RSTS 相关的基因突变和临床表现谱，并强调了在管理 RSTS 等罕见遗传疾病时，保持对罕见表现和诊断困难的高度认识的重要性。
