Department of Plastic Surgery, University of Tokyo School of Medicine, Tokyo, Japan.
Int J Dermatol. 2010 Oct;49(10):1146-51. doi: 10.1111/j.1365-4632.2010.04559.x.
Five familial cases exhibited ephelides-like multiple lentigines, and we examined three of them, a mother and two sons. All three patients presented with small dark-brown maculae on the face and neck and electrocardiographic abnormalities. These findings sufficed to fulfill the criteria for LEOPARD syndrome (multiple lentigines syndrome), although they lacked five of seven major clinical features. However, the family members presented with a webbed neck and pectus excavatum, which are more frequently seen in Turner or Noonan syndrome. Histological examination of the lentigines revealed slightly elongated rete ridges, a hyperpigmented basal layer, and melanophages in the papillary dermis. Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype. It was suggested that LEOPARD syndrome shows a diverse phenotype but its diagnosis can be verified by mutation analysis.
五个家族性病例表现出类雀斑样多发性黑子，我们检查了其中的三个，一个母亲和两个儿子。所有三名患者的面部和颈部均有小的深褐色斑，并伴有心电图异常。这些发现足以满足 LEOPARD 综合征（多发性黑子综合征）的标准，尽管它们缺乏七个主要临床特征中的五个。然而，家庭成员出现了颈蹼和漏斗胸，这在特纳或努南综合征中更为常见。黑子的组织学检查显示略微拉长的网嵴、基底层色素沉着过度和乳头真皮中的黑素细胞。对患者基因组 DNA 的直接测序显示，所有三人的 PTPN11 基因均存在一致的错义突变 [c.1403C > T (p.T468M)]，证实了具有非典型表型的 LEOPARD 综合征。有人认为 LEOPARD 综合征表现出多样的表型，但可以通过突变分析来验证其诊断。
