Abstract
In 1974, Maurice L. Dorfman and his associates [4] delineated a new type of congenital ichthyosis characterized by ichthyotic erythroderma, severe fatty changes of the liver, and variable neurologic and ocular involvement. The biochemical hallmark of this syndrome was nonmembrane-bound lipid accumulations in the granulocytes of the peripheral blood (Fig. 70) and in granulocyte precursors in the bone marrow [4]. Lipid-containing vacuoles in the granulocytes had previously been described in 1953 by Jordans [6] seen in two brothers suffering from progressive muscular dystrophy, and are hence often referred to as “Jordans’ anomaly.” In 1966, Rozenszajn et al. [9] reported on four cases of Jordans’ anomaly in an Iraqui family. Two of these patients were also studied in Dorfman’s series [4].
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
Angelini C, Phillipart M, Borrone C, Bresolin N, Lucke S (1980) Multisystem triglyceride storage disorder with impaired long-chain fatty oxidation. Ann Neurol 7:5–10
Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G (1975) Neutral lipid storage disease: a new disorder of lipid metabolism. Br Med J 1:553–555
Di Donato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G (1988) Multisystem triglyceride storage disease is due to a specific defect in the,degradation of endocellularly synthesized triglycerides. Neurology 38:1107–1110
Dorfman ML, Hershko C, Eisenberg S, Sagher F (1974) Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 110:261–266
Elias PM, Williams ML (1985) Neutral lipid storage disease with ichthyosis, defective lamellar body content and intracellular dispersion. Arch Dermatol 121:1000–1008
Jordans GH (1953) The familial occurence of fat-containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva. Acta Med Scand 146:419–424
Miranda A, Di Mauro S, Estwood A, Hays A, Johnson WG, Olate M, Whitlock R, Mayeux R, Rowland LP (1979) Lipid storage myopathy, ichthyosis and steatorrhea. Muscle Nerve 2:1–13
Musumeci S, D’Agata A, Romano C, Patané R, Cutrone D (1988) Ichthyosis and neutral lipid storage disease. Am J Med Genet 29:377–382
Rozenszajn L, Klajman A, Yaffe D, Efrati PC (1966) Jordans abnormality in white blood cells. Report of a case. Blood 28:258–265
Venencie PY, Armengaud D, Foldès C, Vieillefond A, Coulombel L, Hadchouel M (1988) Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). Pediatr Dermatol 5:173–177
Williams ML, Elias PM (1987) Genetically transmitted generalized disorders of cornifica- tion. The ichthyoses. Dermatol Clin 5:155–178
Williams ML, Koch TK, O’Donnell JJ, Frost PH, Epstein LB, Grizzard WS, Epstein CJ (1985) Ichthyosis and neutral lipid storage disease. Am J Med Genet 20:711–726
Williams ML, Monger DJ, Rutherfold SL, Hincenbergs M, Rehfeld SJ, Grunfeld C (1988) Neutral lipid storage disease with ichthyosis: lipid content and metabolism of fibroblasts. J Inherited Metab Dis 11:131–143
Wolf R, Zaritzky A, Pollack S (1988) Value of looking at leukocytes in every case of ichthyosis. Dermatologica 177:237–240
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1989 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Traupe, H. (1989). Dorfman’s Syndrome: Neutral Lipid Storage Disease with Ichthyotic Erythroderma. In: The Ichthyoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-73650-6_19
Download citation
DOI: https://doi.org/10.1007/978-3-642-73650-6_19
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-73652-0
Online ISBN: 978-3-642-73650-6
eBook Packages: Springer Book Archive