Bravo-Piris J, Unamuno Perez P, Armijo M
Ann Dermatol Venereol. 1985;112(3):235-41.
Two Urbach-Wiethe disease cases in both univitelline twins sisters, 8 years old, are presented. Consanguinity is demonstrated in their parents and we consider this to be the second study of this type described in Spain and the first one in the world with such genetic features. We emphasize the early process apparition--just after birth--clinically characterised only by hoarseness. In consecutive years, both sisters developed varioliform scars on elbows, knees, and forehead and induration of lips on their mucous surface and palpebral margins. The histological and ultrastructural findings superposed in both patient--typical and confirmatory of the clinical picture--are commented as well as present histopathogenetic interpretations.
本文报告了一对单卵双胞胎姐妹，8岁，均患有乌尔巴赫-维特病。其父母为近亲结婚，我们认为这是西班牙第二篇此类研究报告，也是世界上第一篇具有此类遗传特征的研究报告。我们强调疾病早期症状——出生后不久就出现——临床上仅表现为声音嘶哑。连续几年，两姐妹肘部、膝盖和前额出现痘疮样瘢痕，嘴唇黏膜表面和睑缘出现硬结。文中对两位患者的组织学和超微结构检查结果进行了评论，这些结果与临床症状相符且具有确诊意义，同时还给出了目前的组织病理发生学解释。
