Happle Rudolf
Department of Dermatology, Philipp University, Marburg, Germany.
Dermatology. 2004;209(2):84-7. doi: 10.1159/000079589.
Gustav Schimmelpenning was born in 1928 in Oldenburg (Germany). From 1971 until 1994 he was head of the Department of Psychiatry at the University of Kiel. In 1957, while training in neurology and psychiatry, he comprehensively described a case of sebaceous nevus involving the head, with ipsilateral ocular lesions including coloboma of the upper lid, increased density of cranial bones, epileptic seizures and mental retardation. He concluded that this combination of anomalies represented a new 'phacomatosis'. Subsequently this phenotype was reported by other authors under many different names, such as 'Schimmelpenning syndrome', 'Feuerstein-Mims syndrome', 'Schimmelpenning-Feuerstein-Mims syndrome', 'epidermal nevus syndrome', 'Solomon syndrome', 'linear sebaceous nevus syndrome', 'organoid nevus phacomatosis', or 'Jadassohn nevus phacomatosis'. As a consequence of this confusing terminology, Schimmelpenning syndrome even has two different OMIM entries (no. 163200 and no. 165630). The term 'Schimmelpenning syndrome' is both historically justified and practically sufficient to distinguish this phenotype from other epidermal nevus syndromes.
古斯塔夫·施密尔彭宁1928年出生于德国奥尔登堡。1971年至1994年,他担任基尔大学精神病学系主任。1957年,在接受神经学和精神病学培训期间,他全面描述了一例累及头部的皮脂腺痣病例,伴有同侧眼部病变,包括上睑缺损、颅骨密度增加、癫痫发作和智力迟钝。他得出结论,这种异常组合代表了一种新的“斑痣性错构瘤病”。随后,其他作者以许多不同的名称报道了这种表型,如“施密尔彭宁综合征”“费尔斯坦-米姆斯综合征”“施密尔彭宁-费尔斯坦-米姆斯综合征”“表皮痣综合征”“所罗门综合征”“线状皮脂腺痣综合征”“类器官痣性错构瘤病”或“雅达松痣性错构瘤病”。由于这种令人困惑的术语,施密尔彭宁综合征甚至有两个不同的在线人类孟德尔遗传数据库条目(编号163200和编号165630)。“施密尔彭宁综合征”这个术语在历史上是合理的,并且在实际应用中足以将这种表型与其他表皮痣综合征区分开来。