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A specific ultrastructural marker for disseminated lipogranulomatosis (Farber)

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Summary

An ultrastructural investigation of two cutaneous lesions in a two-year-old Turkish boy with disseminated lipogranulomatosis (Farber) revealed curvilinear bodies in fibroblasts, histiocytes, and endothelial cells; “elongated membranes” in fibroblasts and endothelial cells; “zebra bodies” in endothelial cells; and spindle-shaped bodies in Schwann cells. In peripheral lymphocytes only alterations of mitochondria (swelling and ruptured cristae) but no inclusion bodies were found. Curvilinear bodies were numerous and easily identifiable; they appear to be characteristic of Farber's disease, and naming them “Farber bodies” is proposed. The diagnosis of this ceramide storage disease, in which the histological examination is relatively unspecific, can therefore be confirmed ultrastructurally.

Zusammenfassung

Eine elektronenmikroskopische Untersuchung von 2 Hautläsionen bei einem aus der Türkei stammenden 2jährigen Jungen mit disseminierter Lipogranulomatosis (Farber) zeigte curvilineare Körper in Fibroblasten, Histiocyten und Endothelzellen, flache Membrananordnungen in Fibroblasten und Endothelzellen und spindelartige Körper in Schwann-Zellen. In peripheren Lymphocyten fanden sich nur Veränderungen der Mitochondrien (Schwellung und aufgebrochene Cristae), jedoch keine Einschlußkörper. Die intracytoplasmatischen curvilinearen Körper waren zahlreich und leicht nachweisbar. Sie scheinen für den M. Farber spezifisch zu sein, und es wird vorgeschlagen, sie “Farber Körper” zu nennen. Die Diagnose dieser Ceramidspeicherkrankheit, in der das histologische Bild weitgehend unspezifisch ist, kann daher ultrastrukturell bestätigt werden.

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Authors and Affiliations

  1. Dermatologische Klinik und Poliklinik der Universität München (Direktor: Prof. Dr. O. Braun-Falco), Frauenlobstr. 9-11, D-8000, München 2, Federal Republic of Germany

    Christian Schmoeckel

  2. Kinderklinik der Universität München (Direktor: Prof. Dr. K. Betke), Lindwurmstr. 4, D-8000, München 2, Federal Republic of Germany

    Michael Hohlfed

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  1. Christian Schmoeckel
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  2. Michael Hohlfed
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Dedicated to Prof. Dr. Klingmüller on his 60th birthday

Supported by the Deutsche Forschungsgemeinschaft

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Schmoeckel, C., Hohlfed, M. A specific ultrastructural marker for disseminated lipogranulomatosis (Farber). Arch Dermatol Res 266, 187–196 (1979). https://doi.org/10.1007/BF00694628

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