Nazzaro V, Blanchet-Bardon C, Lorette G, Civatte J
Unité de Recherche sur le Diagnostic Anténatal en Dermatologie, Hôpital Saint-Louis, Paris.
J Am Acad Dermatol. 1990 Aug;23(2 Pt 2):385-8. doi: 10.1016/0190-9622(90)70229-b.
Keratitis, ichthyosis, and deafness (KID) syndrome in a mother and her daughter is reported. Both patients showed the typical cutaneous abnormality of papillomatous hyperkeratosis, which gave the skin a grainy, rugose, spiculated appearance, together with keratitis with corneal neovascularization and a neurosensory hearing defect. Treatment with etretinate did not benefit the daughter. The mother had marked keratitis with progressive corneal opacification that required repeated bilateral corneal grafts, which were unsuccessful. This is the second report of hereditary transmission of this disorder. An autosomal dominant mode of inheritance is probable.
报告了一位母亲及其女儿患角膜炎症、鱼鳞病和耳聋（KID）综合征的病例。两位患者均表现出典型的皮肤异常，即乳头瘤样角化过度，使皮肤呈现颗粒状、粗糙不平、有小刺的外观，同时伴有角膜新生血管的角膜炎和神经感觉性听力缺陷。用维甲酸治疗对女儿无效。母亲患有严重的角膜炎，伴有进行性角膜混浊，需要反复进行双侧角膜移植，但均未成功。这是该疾病遗传传播的第二篇报告。可能为常染色体显性遗传模式。
