Bork K, Hoede N
Department of Dermatology, University of Mainz, West Germany.
Arch Dermatol. 1988 Aug;124(8):1225-9.
We describe three female patients in a family of two generations, who suffered from generalized and maximally pea-sized histiocytic tumors beginning in early adolescence. The disease ran a uniform and slowly progressive course and was confined to the skin. There were no signs of spontaneous tumor regression. Histologic, immunohistochemical, and ultrastructural examination revealed the histiocytic nature of the tumors. An outstanding finding was a marked production of mucinous material, predominantly in long-standing tumors. This nonlangerhansian syndrome differs from other benign normolipemic histiocytic diseases with generalized histiocytic tumors by inheritance, which is most likely autosomal dominant, and by other clinical and histologic features. Since a storage disease could be excluded, the syndrome presented here seems to be a hitherto unknown entity among the benign generalized histiocytoses.
我们描述了一个两代人的家族中的三名女性患者，她们从青春期早期开始患有全身性且最大豌豆大小的组织细胞肿瘤。该病病程一致且进展缓慢，局限于皮肤。没有肿瘤自发消退的迹象。组织学、免疫组织化学和超微结构检查揭示了肿瘤的组织细胞性质。一个突出的发现是大量产生黏液物质，主要见于长期存在的肿瘤中。这种非朗格汉斯细胞综合征在遗传方面（很可能是常染色体显性遗传）以及其他临床和组织学特征方面，与其他伴有全身性组织细胞肿瘤的良性正常血脂性组织细胞疾病不同。由于可以排除贮积病，这里呈现的综合征似乎是良性全身性组织细胞增多症中一个迄今未知的实体。
