Steuhl K P, Anton-Lamprecht I, Arnold M L, Thiel H J
Universitäts-Augenklinik, Eberhard-Karls-Universität, Tübingen 1, Federal Republic of Germany.
Graefes Arch Clin Exp Ophthalmol. 1988;226(3):216-23. doi: 10.1007/BF02181184.
Since early infancy a male patient now 24 years of age had suffered from painful, recurrent, bilateral corneal erosions and blister formation after minimal skin trauma. Corneal erosions are quite unusual in non-scarring types of epidermolysis bullosa. The dermatological examination disclosed that the patient had clinical hallmarks of two rare genetic skin disorders, epidermolysis bullosa simplex (Köbner) and X-linked ichthyosis. Both disorders could be traced back in the patient's maternal family to the mother's father and his brother, who were both said to have had similar eye complaints. Using biochemical means and electron microscopy of skin biopsy specimens, both diagnoses could be proven in the patient and his mother. We discuss the importance of lid hyperkeratoses in hemizygous males as a causative factor for the recurrence of bilateral corneal erosions due to the unique combination of epidermolysis bullosa simplex (Köbner) and X-linked ichthyosis with steroid sulfatase deficiency.
一名24岁男性患者自幼年起，在轻微皮肤创伤后反复出现双侧角膜糜烂、水疱形成，并伴有疼痛。角膜糜烂在非瘢痕性大疱性表皮松解症中较为罕见。皮肤科检查发现，该患者具有两种罕见的遗传性皮肤病——单纯性大疱性表皮松解症（科布纳型）和X连锁鱼鳞病的临床特征。这两种疾病在患者母亲一方的家族中可追溯到患者母亲的父亲及其兄弟，据说他们都有类似的眼部症状。通过对皮肤活检标本进行生化检测和电子显微镜检查，证实患者及其母亲患有这两种疾病。我们讨论了半合子男性眼睑角化过度作为双侧角膜糜烂复发的致病因素的重要性，这是由于单纯性大疱性表皮松解症（科布纳型）和X连锁鱼鳞病伴类固醇硫酸酯酶缺乏的独特组合所致。
