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Abstract：
CLOVES syndrome is a novel sporadic mosaic segmental overgrowth syndrome, currently categorized under the canopy of PROS (PIK3CA-related overgrowth spectrum) disorders. All PROS disorders harbor heterozygous postzygotic activating somatic mutations involving the PIK3CA gene. As an upstream regulator of the PI3K/AKT/mTOR signal transduction pathway, activating mutations of PIK3CA gene commence in uncontrolled growth of cutaneous, vascular (capillaries, veins, and lymphatics), adipose, neural, and musculoskeletal tissues. The excessive growth is segmental, patchy, asymmetric, and confined to body parts affected by the mutation. The term \'CLOVES\' is an acronym denoting congenital lipomatous overgrowth, vascular malformations, epidermal nevi and spinal (scoliosis) and/ or skeletal anomalies. The syndrome is characterized by an admixture of overgrown tissues, derived mainly from mesoderm and neuroectoderm. Among PROS disorders, CLOVES syndrome represents the extreme end of the spectrum with massive affection of almost the entire body. The syndrome might judiciously be treated with medications hampering with the PI3K/AKT/mTOR signal transduction pathway. This article aims at reviewing the cutaneous and musculoskeletal manifestations of CLOVES syndrome, as the paradigm for PROS disorders. CLOVES syndrome and other PROS disorders are still misdiagnosed, underdiagnosed, underreported, and undertreated by the dermatology community.
摘要：
CLOVES综合征是一种新型的偶发性马赛克节段过度生长综合征，目前归类为PROS（PIK3CA相关的过度生长谱）疾病的冠层。所有PROS疾病都有涉及PIK3CA基因的杂合后激活体细胞突变。作为PI3K/AKT/mTOR信号转导通路的上游调控因子,PIK3CA基因的激活突变开始于皮肤的不受控制的生长，血管(毛细血管，静脉,和淋巴管)，脂肪,神经,和肌肉骨骼组织。过度增长是分段的，零散的,不对称，局限于受突变影响的身体部位。术语“CLOVES”是一个缩写词，表示先天性脂肪瘤过度生长，血管畸形,表皮痣和脊柱（脊柱侧凸）和/或骨骼异常。该综合征的特征是杂草丛生的组织，主要来源于中胚层和神经外胚层。在PROS障碍中，CLOVES综合征代表了频谱的极端，几乎整个身体都受到了巨大的影响。该综合征可以用阻碍PI3K/AKT/mTOR信号转导途径的药物治疗。本文旨在综述CLOVES综合征的皮肤和肌肉骨骼表现,作为PROS障碍的范例。CLOVES综合征和其他PROS疾病仍然被误诊，诊断不足,少报,皮肤科治疗不足。
