Hagari Y, Aso M, Shimao S, Okano T, Kurimasa A, Takeshita K
Department of Dermatology, Faculty of Medicine, Tottori University, Yonago, Japan.
J Dermatol. 1992 Aug;19(8):477-80. doi: 10.1111/j.1346-8138.1992.tb03265.x.
This is the first report of a Japanese girl with Proteus syndrome. She presented with growth acceleration and precocious development of the left breast as well as macrodactyly, hemihypertrophy, a subcutaneous preaxillary mass, portwine stains, connective tissue nevi, and a depigmented macule. All these abnormalities were confined to the left side of her body. Although most of the manifestations fit those of Proteus syndrome, the presence of the portwine stains and hemihypertrophy also suggested Klippel-Trenaunay-Weber syndrome. The findings in our patient suggest that the most important characteristic distinguishing Proteus syndrome from Klippel-Trenaunay-Weber syndrome is the presence of functional abnormalities such as a growth spurt and precocious breast development. Proteus syndrome may be genetically different from the Klippel-Trenaunay-Weber syndrome.
这是关于一名患有变形综合征的日本女孩的首例报告。她表现为生长加速、左侧乳房早熟发育，以及巨指（趾）症、半侧肥大、腋下皮下肿块、葡萄酒色斑、结缔组织痣和色素脱失斑。所有这些异常均局限于她身体的左侧。尽管大多数表现符合变形综合征，但葡萄酒色斑和半侧肥大的存在也提示了克-特-韦综合征。我们患者的这些发现表明，变形综合征与克-特-韦综合征最重要的区别特征是存在生长突增和乳房早熟等功能异常。变形综合征在基因上可能与克-特-韦综合征不同。
