PDF(Pubmed)
Abstract：
SOLAMEN syndrome is a rare, recently recognized congenital syndrome that is characterized by progressive and hypertrophic diseases involving multiple systems, including segmental overgrowth, lipomatosis, arteriovenous malformation (AVM) and epidermal nevus. According to literatures, SOLAMEN syndrome is caused by heterozygous PTEN mutation. Phenotypic overlap complicates the clinical identification of diseases associated with PTEN heterozygous mutations, making the diagnosis of SOLAMEN more challenging. In addition, SOLAMEN often presents with segmental tissue overgrowth and vascular malformations, increasing the possibility of misdiagnosis as klipple-trenaunay syndrome or Parks-Weber syndrome. Here, we present a case of a child presenting with macrocephaly, patchy lymphatic malformation on the right chest, marked subcutaneous varicosities and capillaries involving the whole body, overgrowth of the left lower limb, a liner epidermal nevus on the middle of the right lower limb, and a large AVM on the right cranial thoracic entrance. Based on the typical phenotypes, the child was diagnosed as SOLAMEN syndrome. detailed clinical, imaging and genetic diagnoses of SOLAMEN syndrome was rendered. Next-generation sequencing (NGS) data revealed that except for a germline PTEN mutation, a PDGFRB variant was also identified. A subsequent echocardiographic examination detected potential cardiac defects. We suggested that given the progressive nature of AVM and the potential severity of cardiac damage, regular echocardiographic evaluation, imaging follow-up and appropriate interventional therapy for AVM are recommended.
摘要：
SOLAMEN综合征是一种罕见的,最近认识到的先天性综合征，其特征是涉及多个系统的进行性和肥大性疾病，包括节段性过度生长，脂肪瘤病,动静脉畸形（AVM）和表皮痣。根据文献,SOLAMEN综合征由杂合子PTEN突变引起。表型重叠使PTEN杂合突变相关疾病的临床鉴定变得复杂,使SOLAMEN的诊断更具挑战性。此外,SOLAMEN常表现为节段组织过度生长和血管畸形，增加误诊为kliple-trenaunay综合征或Parks-Weber综合征的可能性。这里,我们介绍了一个患有大头畸形的孩子，右胸有斑片状淋巴畸形，明显的皮下静脉曲张和毛细血管累及全身，左下肢过度生长，右侧下肢中部的表皮痣，右颅胸部入口处有一个大的AVM。根据典型的表型，患儿被诊断为SOLAMEN综合征.详细的临床，对SOLAMEN综合征进行影像学和遗传学诊断。下一代测序（NGS）数据显示，除了种系PTEN突变，还鉴定了PDGFRB变体。随后的超声心动图检查检测到潜在的心脏缺陷。我们建议考虑到AVM的进行性和心脏损害的潜在严重程度，常规超声心动图评估，建议对AVM进行影像学随访和适当的介入治疗.
