First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.

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.