Hartman Rachael D, Molho-Pessach Vered, Schaffer Julie V
Department of Dermatology, New York University, New York, New York.
Dermatol Online J. 2010 Nov 15;16(11):4.
A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hünermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata.
一名七岁女孩出生时皮肤呈红色且有鳞屑，随后发展为色素减退和毛囊性皮肤萎缩，广泛分布并沿布拉斯科线排列。她还患有斑片状瘢痕性脱发、左眼小眼症、双侧白内障、面容畸形、身材矮小、髋关节发育不良和脊柱异常。血浆8(9)-胆甾烯醇水平升高确诊为康拉迪-许纳曼-哈普尔综合征，该病由依莫帕米结合蛋白（EBP）基因突变引起。本报告强调了这种X连锁显性点状软骨发育不良临床症状随时间的演变。
