Dot C, Dordain M, Boucher E, Metge F, Millet P, Maille M, Maurin J
Clinique d'Ophtalmologie, HIA du Val de Grâce - Paris.
J Fr Ophtalmol. 2000 Oct;23(8):809-16.
Schöpf-Schultz-Passarge syndrome is a rare ectodermal dysplasia described by Schöpf in 1971. The disease is characterized by hypodontia, hypotrichosis, palmoplantar keratoderma, hypoplastic nails and eyelid hydrocystomas. We report the case of a 71-year-old man, the first French description of this syndrome, who remarkably presented all the signs. The patient also had skin tumors, multiple eccrime hidrocystomas and aspectific macular degeneration. A review of the literature is discussed.
舍普夫-舒尔茨-帕萨热综合征是一种罕见的外胚层发育不良,由舍普夫于1971年首次描述。该疾病的特征为牙齿发育不全、毛发稀少、掌跖角化病、指甲发育不全和眼睑汗腺囊瘤。我们报告了一例71岁男性病例,这是该综合征在法国的首例描述,该患者呈现出了所有典型症状。患者还患有皮肤肿瘤、多发性小汗腺汗腺囊瘤和特异性黄斑变性。本文对相关文献进行了综述。