CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders.

中文翻译：

---

一名患有PILO3CA综合征且复发性PIK3CA体细胞突变和胰腺脂肪变性的女孩。

CLOVES综合征的特征是先天性脂肪瘤过度生长，血管畸形，表皮痣和脊柱侧弯/脊柱畸形。它是由PIK3CA的功能获得型变体的体细胞镶嵌术引起的。在这里，我们描述了一个5岁的日本小女孩伴小腿并发胰腺脂肪变性的新病例。她在PIK3CA中发生了反复的体细胞突变（NM_006218.3：c.1357G> A，p.Glu453Lys），HbA1c水平升高和胰腺脂肪变性。该病例表明胰腺筛查对于PIK3CA相关疾病至关重要。