表皮痣、心律失常、佝偻病、低磷血症一例报告

Epidermal nevus,arrhythmia,rickets,hypophosphatemia:a case report

表皮痣综合征是指表皮痣伴有内分泌、神经、心血管和泌尿生殖等系统发育异常的一组先天性综合征,表皮痣综合征并发低磷佝偻病在国内无报道先例。本文报告1例低磷佝偻病患儿,该患儿同时存在全身多发表皮痣、病态窦房结综合征等表现,最后经过组织病理活检、基因检测等检查确诊为表皮痣综合征。本文旨在提高对表皮痣综合征这一罕见疾病的认识,以早期诊断,并给予合理的治疗和随访。

Epidermal nevus syndrome is a group of congenital syndromes,in which epidermal nevus is accompanied by abnormalities of endocrine,neurologic,cardiovascular,and urogenital systems.We reported a child with hypophosphatemic ricket who also had epidermal nevi and sick sinoatrial node syndrome.Epidermal nevus syndrome was confirmed by histopathological biopsy and gene detection.The purpose of this paper is to improve the understanding of epidermal nevus syndrome,in order to early diagnosis,and to give reasonable treatment and follow-up.