Archives of Dermatological Research

, Volume 266, Issue 2, pp 187–196 | Cite as

A specific ultrastructural marker for disseminated lipogranulomatosis (Farber)

  • Christian Schmoeckel
  • Michael Hohlfed
Article

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.

Key words

Disseminated lipogranulomatosis Farber's disease Sphingolipidoses Ceramide Ultrastructure 

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.

Schlüsselwörter

Disseminierte Lipogranulomatose M. Farber Sphingolipidosen Ceramid Ultrastruktur 

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References

  1. 1.
    Aleu, F. P., Terry, R. D., Zellweger, H.: Cerebral biopsies in gargoylism. J. Neuropathol. Exp. Neurol.24, 304–317 (1965)Google Scholar
  2. 2.
    Amirhakimi, G. H., Haghighi, P., Ghalambor, M. A., Honari, S.: Familial lipogranulomatosis (Farber's disease). Clin. Genet.9, 625–630 (1976)Google Scholar
  3. 3.
    Battin, J., Vital, C., Azanza, X.: Une neuro-lipidose rare avec lésions nodulaires sous-cutanées et articulaires: La lipogranulomatose disséminée de Farber. Ann. Dermatol. Syphiligr. (Paris)97, 241–248 (1970)Google Scholar
  4. 4.
    Becker, H., Auböck, L., Haidvogl, M., Bernheimer, H.: Disseminierte Lipogranulomatose (Farber)—Kasuistischer Beitrag des 16. Falles einer Ceramidose. Verh. Dtsch. Ges. Pathol.60, 254–258 (1976)Google Scholar
  5. 5.
    Dustin, P., Tondeur, P. M., Jonniaux, G., Vamos-Hurwitz, E., Pelc, S.: La maladie de Farber. Etude anatomo-clinique et ultrastructurale. Bull. Acad. Med. Belg.128, 733–762 (1973)Google Scholar
  6. 6.
    Dulaney, J. T., Milemsky, A., Sidbury, J. B., Hobolth, N., Moser, H. W.: Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J. Pediatr.89, 59–61 (1976)Google Scholar
  7. 7.
    Farber, S.: A lipid metabolic disorder—disseminated “lipogranulomatosis”. A syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. Am. J. Diss. Child.84, 499–500 (1952)Google Scholar
  8. 8.
    Hers, H. G., van Hoof, F.: Genetic abnormalities of lysosomes. In: Lysosomes in biology and pathology, Dingle, J. T., Fell, H. B., (ed.) Vol. 2. Amsterdam, London: North-Holland Publ. Co.Google Scholar
  9. 9.
    Lazarus, S. S., Vethamany, V. G., Volk, B.: Fine structure of PHA-transformed lymphocytes from patients with Niemann-Pick disease. Arch. Pathol. (Chic.)86, 176–183 (1968)Google Scholar
  10. 10.
    Molz, G.: Farbersche Krankheit. Pathologisch-anatomische Befunde. Virchows Arch. Pathol. Anat.344, 86–99 (1968)Google Scholar
  11. 11.
    Moser, H. W., Prensky, A. L., Wolfe, H. J., Rosman, N. P.: Farber's lipogranulomatosis (report of a case and demonstration of an excess of free ceramide and ganglioside). Am. J. Med.47, 869–890 (1969)Google Scholar
  12. 12.
    Murata, F., Wohltman, H., Spicer, S. S., Nagata, T.: Fine structural and ultrachemical studies on the lymphocytes in three types of genetic mucopolysaccharidoses. Virchows Arch. Cell Pathol.25, 61–73 (1977)Google Scholar
  13. 13.
    Ozaki, H., Mizutani, M., Hayashi, H., Oka, E., Ohtahara, S., Kimoto, H., Tanaka, T., Hakozaki, H., Takahashi, K., Suzuki, Y.: Farber's disease (disseminated lipogranulomatosis): The first case reported in Japan. Acta Med. Okayama32 (1), 69–79 (1978)Google Scholar
  14. 14.
    Rutsaert, J., Tondeur, M., Vamos-Hurwitz, E., Dustin, P.: The cellular lesions of Farber's disease and their experimental reproduction in tissue culture. Lab. Invest.36, 474–480 (1977)Google Scholar
  15. 15.
    Samuelsson, Zetterström, R.: Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. J. Scand. J. Clin. Lab. Invest.27, 393–403 (1971)Google Scholar
  16. 16.
    Sugita, M., Dulaney, J. T., Moser, H. W.: Ceramidase deficiency in Farber's disease (lipogranulomatosis). Science178, 1100–1102 (1972)Google Scholar
  17. 17.
    Toga, M., Berard-Badier, M., Pinsard, N., Gambarelli, D., Hassoun, J., Tripier, M. F.: Etude clinique, histologique et eltrastructurale de quatre cas de leucodystrophie métachromatique infantile et juvenile. Acta Neuropathol.21, 23–38 (172)Google Scholar
  18. 18.
    Zeman, W., Donahue, S.: Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta Neuropathol.3, 144–149 (1963)Google Scholar
  19. 19.
    Zetterström, R.: Disseminated lipogranulomatosis (Farber's disease). Acta Paediatr. (Uppsala)47, 501–510 (1958)Google Scholar

Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • Christian Schmoeckel
    • 1
  • Michael Hohlfed
    • 2
  1. 1.Dermatologische Klinik und Poliklinik der Universität München (Direktor: Prof. Dr. O. Braun-Falco)München 2Federal Republic of Germany
  2. 2.Kinderklinik der Universität München (Direktor: Prof. Dr. K. Betke)München 2Federal Republic of Germany

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