Fokale dermaIe Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen
Fokale dermaIe Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen
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伴有角化症、食道乳头状瘤和眼囊肿的局灶性真皮发育不全
DOI：
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发表时间：
1975
期刊：
影响因子：
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通讯作者：
A. Krebs
中科院分区：
文献类型：
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作者：
L. Zala;C. Ettlin;A. Krebs
局灶性真皮发育不全(Goltz‘s综合征，Goltz-Gorlin综合征)是一种少见的先天性皮肤病，其特征是广泛存在于皮肤、眼睛、骨骼系统和牙齿的中-外胚层缺陷。本病例与Naegeli 1926发表的病例相同，并包含一些尚未报道的新发现，即：多发性汗囊瘤、双侧圆锥角化、食管乳头状瘤病、裂孔疝。
Focal dermal hypoplasia (Goltz’s syndrome, Goltz-Gorlin syndrome), an uncommon malady belonging to the group of congenital poikiloderma, is characterized by its broad spectrum of meso-ectodermal defects involving the skin as well as the eyes, skeletal system and teeth. The case represented here is identical with the one published by Naegeli 1926, and contains some additional findings that have not yet been reported, namely: multiple hidrocystomas, bilateral keratoconus, papillomatosis of esophagus, hiatus hernia.