Abstract
In these diseases, which are also called thesaurismoses, there is no increase in serum lipids or lipoproteins as is characteristic of hyperlipoproteinemia. The morphological anomaly is characterized by a generalized proliferation of histiocytoid cells in which lipids are deposited only as a secondary consequence of a genetically determined disorder of cell metabolism. There is usually no possibility of etiotropic treatment of these diseases.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Bibliography: Systemic Lipid Storage Diseases
Refsum’s Disease
Davies MG, Marks R, Dykes PJ et al. (1977) Epidermal abnormalities in Refsum’s disease. Br J Dermatol 97: 401–406
Molzer B, Bernheimer H, Barolin GS et al. (1981) Di-, mono-, and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Ref-sum’s disease. Clin Chim Acta 9: 133–140
Rand RE, Baden HP (1983) The ichthyoses — a review. J Am Acad Dermatol 8: 285–305
Refsum S (1946) Heredopathia atactica polyneuritiformis; familial syndrome not hitherto described; contribution to clinical study of hereditary diseases of nervous system. Acta Psychiatr Scand Suppl 38: 1–303
Reynolds DJ, Marks R, Davies MG et al. (1978) The fatty acid composition of skin and plasma lipids in Refsum’s disease. Clin Chim Acta 90: 171–177
Steinberg D (1983) Phytanic acid storage disease (Refsum’s disease). In: Stanbury JB, Wyngaarden JB, Fredrickson DS et al. (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 731–747
Tangier Disease
Assmann G (1976) Tangier-Krankheit. In: Schettler G, Greten H, Schlierf G et al. (eds) Fettstoffwechsel. Springer, Berlin, pp 459–483 (Handbuch der Inneren Medizin, vol 7/4)
Assmann G, Smootz E, Adler K et al. (1977) The lipoprotein abnormality in Tangier disease. Quantitation of apoproteins. J Clin Invest 59: 565–575
Bale PM, Clifton-Bligh P, Benjamin BNP et al. (1971) Pa- thology of Tangier disease. J Clin Pathol 24: 609–616
Bibliography: Systemic Lipid Storage Diseases 867
Fredrickson DS, Altrocchi PH, Avioli LV et al. (1961) Tangier disease. Ann Intern Med 55: 1016–1030
Herbert PN, Assmann G, Gotto AM Jr et al. (1983) Familial lipoprotein deficiency: abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS et al. (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 589–621
Huth K, Kracht J, Schoenborn W et al. (1970) Tangier-Krankheit ( Hyp-alpha-Lipoproteinämie ). Dtsch Med Wochenschr 95: 2357–2361
Waldorf DS, Levy RI, Fredrickson DS (1967) Cutaneous cholesterol ester deposition in Tangier disease. Arch Dermatol 95: 161–165
Sphingolipidoses
Anderson W (1898) A case of angio-“ keratoma.” Br J Dermatol 10: 113–117
Brady RO, Gal AE, Bradley RM et al. (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Eng J Med 276: 1163–1167
Desnick RJ, Sweeley CC (1987) Fabry’s disease: alpha-galactosidase A deficiency. In: Fitzpatrick TB, Eisen AZ, Wolff K et al. (eds) Dermatology in general medicine, 3rd edn. McGraw Hill, New York, pp 1739–1760
Desnick RJ, O’Dea RF, Krivit W (1976) Fabry’s disease — angiokeratoma corporis diffusum universale. In: Schettler G, Greten H, Schlierf G et al. (eds) Fettstoffwechsel. Springer, Berlin, pp 597–611 (Handbuch der Inneren Medizin, vol 7/4)
Fabry J (1898) Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) Arch Dermatol Syph 43: 187–200
Ishibashi A, Tsuboi R, Shinmei M (1984) ß-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. Arch Dermatol 120: 1344–1346
Kint JA (1970) Fabry’s disease: alpha-galactosidase deficiency. Science 167: 1268–1269
Luderschmidt C, Wolff HH (1980) Heterozygoter Morbus Fabry. Fallbericht mit elektronenmikroskopischer Untersuchung. Hautarzt 31: 372–375
Opitz JM, Stiles FC, Wiese D et al. (1965) The genetics of angiokeratoma corporis diffusum ( Fabry’s disease) and its linkage relations with the Xg locus. Am J Hum Genet 17: 325–342
Ruiter M (1959) Milestones in dermatology: angiokeratoma corporis diffusum. Excerpta Medica Sect XIII 13: 61–64
Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum: a clinical study of eight affected families. Q J Med 31: 177–206
Brady RO, Barranger JA, Gal AE et al. (1980) Status of enzyme replacement therapy for Gaucher disease. Birth Defects 16: 361–368
Gaucher PCE (1882) De l’épithéliome primitif de la rate. Thèse, Paris
Hsia DYY, Naylor J, Bigler JA (1959) Gaucher’s disease. Report of two cases in father and son, and review of the literature. N Eng J Med 261: 164–169
Lee RE, Robinson DB, Glew RH (1981) Gaucher’s disease. I. Modern enzymatic and anatomic methods of diagnosis. Arch Pathol 105: 102–104
Peters SP, Glew RH, Lee RE (1977) Gaucher’s disease. A review. Medicine (Baltimore) 56: 425–442
Schettler G (1976) Morbus Gaucher. In: Schettler G, Greten H, Schlierf G et al. (eds) Fettstoffwechsel. Springer, Berlin, pp 547–564 (Handbuch der Inneren Medizin, vol 7/4)
Beaudet AL, Hampton MS, Patel K et al. (1980) Acidic phospholipases in cultured human fibroblasts: deficiency of phospholipase C in Niemann-Pick disease. Clin Chim Acta 108: 403–414
Brady RO (1983) Sphingomyelin lipidoses: Niemann-Pick disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS et al. (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 831–856
Breen L, Morris HH, Alperin JB et al. (1981) Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two case reports and review of the literature. Arch Neurol 38: 388–390
Crocker AC, Farber S (1958) Nieman-Pick disease: a review of eighteen patients. Medicine (Baltimore) 37: 1–95
Harzer K, Benz HU (1976) Sphingomyelinosen (NiemannPieck’sche Erkrankung). In: Schettler G, Greten H, Schlierf G et al. (eds) Fettstoffwechsel. Springer, Berlin, pp 523–546 (Handbuch der Inneren Medizin, vol 7/4)
Niemann A (1914) Ein unbekanntes Krankheitsbild. Jahrb Kinderheilkd 79: 1–10
Pick L (1926) Der Morbus Gaucher und die ihm ähnlichen Erkrankungen. (Die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhyperplasie der Milz). Ergeb Inn Med Kinderheilkd 29: 519627
Pick L (1933) Niemann-Pick’s disease and other forms of so-called xanthomatosis. Am J Med Sci 185: 601–616
Amirhakimi GH, Haghighi P, Ghalambor MA et al. (1976) Familial lipogranulomatosis ( Farber’s disease ). Clin Genet 9: 625–630
Battin J, Vital CL, Azanca X (1970) Une neurolipidose rare avec lesions nodulaires: la lipogranulomatose de Farber. Ann Dermatol Syph 97: 241–248
Farber S (1952) A lipoid metabolic disorder — disseminated “lipogranulomatosis” — a syndrome with similarity to, and important difference from, Niemann-Pick and HandSchüller-Christian disease. Am J Dis Child 84: 499–500
Farber S, Cohen J, Uzman LL (1957) Lipogranulomatosis: a new lipoglycoprotein “storage” diseases. J Mt Sinai Hosp NY 24: 816–837
Moser HW, Chez WW (1983) Ceramidase deficiency: Farber’s lipogranulomatosis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS et al. (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 820–830
Schmoeckel C, Hohlfeld M (1979) A specific ultrastructural marker for disseminated lipogranulomatosis ( Farber ). Arch Dermatol Res 266: 187–196
Sugita M, Dulaney JT, Moser HW (1972) Ceramidase deficiency in Farber’s disease (lipogranulomatosis). Science 178: 1100–1102
Bedoya V, Grimley PM, Duque O (1969) Chédiak-Higashi syndrome. Arch Pathol 88: 340–349
Blume RS, Wolf SM (1972) The Chédiak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 51: 247–280
Boxer LA, Watanabe AM, Rister M et al. (1976) Correction of leukocyte function in Chédiak-Higashi syndrome by ascorbate. N Engl J Med 295: 1041–1045
Boxer LA, Hister M, Allen JM (1977) Improvement of Chédiak-Higashi leukocyte function by cyclic guanosine monophosphate. Blood 49: 9–17
Clawson CC, White JG, Repine JE (1978) The ChédiakHigashi syndrome. Evidence that defective leukotaxis is primarily due to an impediment by giant granules. Am J Pathol 92: 745–751
Chédiak M (1952) Nouvelle anomalie lecocytaire de charactère constitutionnel et familial. Rev Hematol (Paris) 7: 362–367
Higashi O (1954) Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59: 315–322
Undritz E (1958) Die Chédiak-Steinbrinck-Anomalie oder erblich-konstitutionelle Riesengranulation (Granulagiganten) der Leukozyten. Schweiz Med Wochenschr 88: 996–999
Weary PE, Bender AS (1967) Chédiak-Higashi syndrome with severe cutaneous involvement. Occurrence in two brothers 14 and 15 years of age. Arch Intern Med 119: 381–386
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1991 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Braun-Falco, O., Plewig, G., Wolff, H.H., Winkelmann, R.K. (1991). Systemic Lipid Storage Diseases. In: Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-00181-3_38
Download citation
DOI: https://doi.org/10.1007/978-3-662-00181-3_38
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-00183-7
Online ISBN: 978-3-662-00181-3
eBook Packages: Springer Book Archive