Flach D B, Winkelmann R K
J Am Acad Dermatol. 1986 Mar;14(3):405-11. doi: 10.1016/s0190-9622(86)70049-2.
We describe two boys in whom extensive normolipemic cutaneous papulonodular xanthomatous lesions developed and disabling central nervous system disease later developed. Histologically, lesional skin from each patient was consistent with juvenile xanthogranuloma. Electron microscopic studies in each case failed to reveal Langerhans (Birbeck) granules. Results of S-100 protein studies done with the peroxidase-immunoperoxidase technic were negative in each case. Radiation therapy and systemic corticosteroids have been partially successful in controlling the cerebellar ataxia experienced by one of the patients. The other patient had progressive central nervous system disease and died 8 years after the onset of his skin lesions despite radiation therapy and systemic chemotherapy. We believe that these cases are examples of normolipemic, xanthomatous, non-X histiocytosis with features of juvenile xanthogranuloma and aggressive central nervous system disease.
我们描述了两名男孩，他们身上出现了广泛的血脂正常的皮肤丘疹结节性黄瘤病变，随后发展为致残性中枢神经系统疾病。组织学上，每名患者的病变皮肤与幼年性黄色肉芽肿一致。每例的电子显微镜研究均未发现朗格汉斯（Birbeck）颗粒。采用过氧化物酶-免疫过氧化物酶技术进行的S-100蛋白研究结果在每例中均为阴性。放射治疗和全身性皮质类固醇在控制其中一名患者的小脑共济失调方面取得了部分成功。另一名患者患有进行性中枢神经系统疾病，尽管接受了放射治疗和全身化疗，但在皮肤病变出现8年后死亡。我们认为这些病例是血脂正常、黄瘤性、非X组织细胞增多症的例子，具有幼年性黄色肉芽肿和侵袭性中枢神经系统疾病的特征。
