Grob J J, Breton A, Bonafe J L, Sauvan-Ferdani M, Bonerandi J J
Arch Dermatol. 1987 Jun;123(6):777-82.
A father and daughter had typical clinical features of the keratitis, ichthyosis, and deafness (KID) syndrome, as described by Skinner et al in 1981. To our knowledge, ours is the first observation of a vertical transmission of this syndrome. The mechanism of inheritance is uncertain. These two patients as well as the 26 previously described exhibited a typical hyperkeratotic eruption, which should not be confused with ichthyosis. The characteristic features are diffuse hyperkeratosis, keratotic plaques, reticulated hyperkeratosis on the face, peribuccal grooves, and heavy-grain leatherlike keratoderma. The occurrence of multiple squamous cell carcinomas underlines the seriousness of this congenital ectodermal defect. Etretinate can relieve the lesions without actually improving the chances of survival.
一位父亲和女儿具有1981年Skinner等人所描述的角膜炎、鱼鳞病和耳聋（KID）综合征的典型临床特征。据我们所知，我们是首次观察到该综合征的垂直遗传。遗传机制尚不确定。这两名患者以及之前描述的26例患者均表现出典型的角化过度性皮疹，不应与鱼鳞病相混淆。其特征性表现为弥漫性角化过度、角化性斑块、面部网状角化过度、颊周沟以及粗颗粒状皮革样皮肤角化病。多发性鳞状细胞癌的发生突显了这种先天性外胚层缺陷的严重性。依曲替酯可缓解病变，但实际上并不能提高生存率。
