Font R L, Stone M S, Schanzer M C, Lewis R A
Arch Ophthalmol. 1986 Dec;104(12):1811-3. doi: 10.1001/archopht.1986.01050240085045.
A fourth case of a newly recognized variant of ectodermal dysplasia is reported. This syndrome is characterized by bilateral apocrine hidrocystomas of the eyelid margins, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy. To our knowledge, this syndrome, with its striking ocular manifestations, has not been previously documented in the ophthalmic literature.
报告了一例新发现的外胚层发育不良变异型的第四例病例。该综合征的特征为双侧睑缘大汗腺汗管囊瘤、牙发育不全、掌跖角化过度和甲营养不良。据我们所知,这种具有显著眼部表现的综合征此前在眼科文献中尚无记载。