Chiu Yvonne E, Drolet Beth A, Duffy Kelly J, Holland Kristen E
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Pediatr Dermatol. 2011 Jan-Feb;28(1):15-9. doi: 10.1111/j.1525-1470.2009.00976.x.
Ectodermal dysplasias are diseases with abnormal development of ectodermally derived tissues such as skin, hair, teeth, and nails. Mutations in the transcription factor p63 have been linked to several syndromes characterized by ectodermal, orofacial, and limb defects. We present the case of an infant with ankyloblepharon, cleft palate, scalp dermatitis, and ectrodactyly. She is unique for having a novel p63 mutation that has not been previously reported. Her case also points to the significant overlap between the p63-associated ectodermal dysplasias and challenges the traditional diagnostic schema for these rare syndromes.
外胚层发育不良是指由外胚层来源的组织如皮肤、毛发、牙齿和指甲发育异常的疾病。转录因子p63的突变与几种以外胚层、口面部和肢体缺陷为特征的综合征有关。我们报告了一例患有睑缘粘连、腭裂、头皮皮炎和缺指（趾）畸形的婴儿病例。她的独特之处在于存在一种先前未报道过的新型p63突变。她的病例还表明了p63相关外胚层发育不良之间存在显著重叠，并对这些罕见综合征的传统诊断模式提出了挑战。
