摘要雀斑样痣临床表现为分布境界清楚的棕黑色斑点,可以仅有皮肤受累,也可表现为系统疾病的一部分.临床上以雀斑样痣为皮肤表现的综合征呈常染色体显性遗传,皮肤受累表现为特征性的多发性雀斑样痣,同时伴有不同的系统如心血管系统、内分泌系统、神经系统和骨骼的受累.主要探讨Carney综合征、Leopard综合征、Peutz?Jeghers综合征、Laugier?Hunziker综合征、PTEN相关的错构瘤综合征、雀斑样痣伴动脉夹层综合征和家族性泛发性雀斑样痣共7种以雀斑样痣为皮肤表现的综合征的临床表现和致病基因,并对其发病的分子学机制进行探讨,以加深对该疾病的认识.

abstractsLentiginosis, which manifests as well?circumscribed brownish?black spots, can only affect the skin, or just be a manifestation of systemic diseases. Clinically, syndromes with lentiginosis as the cutaneous manifestation are usually inherited in an autosomal dominant manner, and present with multiple lentiginosis complicated by the involvement of various systems, such as the cardiovascular system,endocrine system, nervous system and skeletal system. This review mainly summarizes clinical manifestations, causative genes and molecular pathogenesis of 7 clinical syndromes with lentiginosis as the cutaneous manifestation, including Carney complex, Leopard syndrome, Peutz?Jeghers syndrome,Laugier?Hunziker syndrome, PTEN hamartoma tumor syndrome, the syndrome of arterial dissections with lentiginosis and familial generalized lentiginosis, which would facilitate understanding of these diseases.