Zappatini-Tommasi L, Dumontel C, Guibaud P, Girod C
Department of Histology, Faculty of Medicine Alexis Carrel, Lyon, France.
Virchows Arch A Pathol Anat Histopathol. 1992;420(3):281-90. doi: 10.1007/BF01600282.
A case of Farber disease is reported and the ultrastructural pathology of the disease is reviewed. The present case showed the typical clinical picture of Farber disease. Acid ceramidase deficiency was demonstrated biochemically. Ultrastructural features of one subcutaneous nodule and a skin biopsy are described. Three lysosomal inclusions characterize Farber disease: curvilinear tubular bodies observed mainly in the reticuloendothelial system, "banana bodies" recorded only in the peripheral nervous system and zebra-like bodies which are essentially a neuronal storage. The nature of each is discussed and the skin biopsy is emphasized for its important diagnostic interest.
本文报告了一例法伯病病例，并对该病的超微结构病理学进行了综述。本病例呈现出法伯病的典型临床表现。生化检测证实存在酸性神经酰胺酶缺乏。描述了一个皮下结节和一次皮肤活检的超微结构特征。法伯病有三种溶酶体包涵体：主要在网状内皮系统中观察到的曲线管状小体、仅在周围神经系统中记录到的“香蕉小体”以及本质上是神经元储存物的斑马样小体。对每种包涵体的性质进行了讨论，并强调了皮肤活检在诊断方面的重要意义。
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