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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Aleu, F. P., Terry, R. D., Zellweger, H.: Cerebral biopsies in gargoylism. J. Neuropathol. Exp. Neurol.24, 304–317 (1965)
Amirhakimi, G. H., Haghighi, P., Ghalambor, M. A., Honari, S.: Familial lipogranulomatosis (Farber's disease). Clin. Genet.9, 625–630 (1976)
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)
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)
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)
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)
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)
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.
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)
Molz, G.: Farbersche Krankheit. Pathologisch-anatomische Befunde. Virchows Arch. Pathol. Anat.344, 86–99 (1968)
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)
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)
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)
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)
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)
Sugita, M., Dulaney, J. T., Moser, H. W.: Ceramidase deficiency in Farber's disease (lipogranulomatosis). Science178, 1100–1102 (1972)
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)
Zeman, W., Donahue, S.: Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta Neuropathol.3, 144–149 (1963)
Zetterström, R.: Disseminated lipogranulomatosis (Farber's disease). Acta Paediatr. (Uppsala)47, 501–510 (1958)
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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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DOI: https://doi.org/10.1007/BF00694628