Abstract：
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.
摘要：
Barber-Say综合征（BSS）是一种罕见的先天性外胚层发育不良，文献报道很少。我们描述了一个9岁的男孩，他的鼻子和眼周区域患有先天性全身性多毛症和多发性横纹肌间质错构瘤（RMHs）。下一代测序，在血液样本的DNA中进行，和RMH组织，揭示了TWIST2基因的致病变异，在患者的唾液样本中没有检测到，也不是他的父母。因此,我们认为这种变体是从头马赛克。据我们所知,这是与BSS相关联的多个RMHs的第一种情况。
