Kim Gene, Shin Helen
Ronald O. Perelman Department of Dermatology, New York University, USA.
Dermatol Online J. 2004 Nov 30;10(3):23.
A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail dystrophy. The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene. The clinical manifestations of Rapp-Hodgkin as well as other ectodermal dysplasias with clefting are discussed.
一名有悬雍垂裂和黏膜下腭裂病史的5岁男孩因指甲脆弱前来评估。体格检查发现杯状耳、宽鼻根、上唇薄、面中部发育不全、毛发粗糙和二十甲营养不良。伴有腭裂的外胚层发育不良的临床表现与拉普-霍奇金综合征相符，拉普-霍奇金综合征是与TP63基因突变相关的几种等位基因疾病之一。本文讨论了拉普-霍奇金综合征以及其他伴有腭裂的外胚层发育不良的临床表现。
