Dermatology pp 861-868 | Cite as

Systemic Lipid Storage Diseases

  • Otto Braun-Falco
  • Gerd Plewig
  • Helmut H. Wolff
  • Richard K. Winkelmann


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.


Heredopathia atactica polyneuritiform phytanic acid thesaurismosis. Analphaproteinemaia. Fabry’s disease Angiokeratoma corporis diffusum universale Thesaurismosis hereditaria lipoidica (Ruiter-Pompen-Wyers) Fabry’s syndrome. Constitutional granular gigantism. Cerebroside lipidosis Kerasin lipid histiocytosis. Sphingomyelin lipidosis Sphinhomyelinosis Niemann-Pick syndrome. Farber’s disease familial lipogranulomatosis. Constitutional granular gigantism. 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Bibliography: Systemic Lipid Storage Diseases

Refsum’s Disease

  1. Davies MG, Marks R, Dykes PJ et al. (1977) Epidermal abnormalities in Refsum’s disease. Br J Dermatol 97: 401–406PubMedCrossRefGoogle Scholar
  2. 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: 133–140Google Scholar
  3. Rand RE, Baden HP (1983) The ichthyoses — a review. J Am Acad Dermatol 8: 285–305PubMedCrossRefGoogle Scholar
  4. 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: 1–303Google Scholar
  5. 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: 171–177PubMedCrossRefGoogle Scholar
  6. 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 731–747Google Scholar

Tangier Disease

  1. 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)CrossRefGoogle Scholar
  2. Assmann G, Smootz E, Adler K et al. (1977) The lipoprotein abnormality in Tangier disease. Quantitation of apoproteins. J Clin Invest 59: 565–575Google Scholar
  3. Bale PM, Clifton-Bligh P, Benjamin BNP et al. (1971) Pa- thology of Tangier disease. J Clin Pathol 24: 609–616PubMedCrossRefGoogle Scholar

Bibliography: Systemic Lipid Storage Diseases 867

  1. Fredrickson DS, Altrocchi PH, Avioli LV et al. (1961) Tangier disease. Ann Intern Med 55: 1016–1030CrossRefGoogle Scholar
  2. 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 589–621Google Scholar
  3. Huth K, Kracht J, Schoenborn W et al. (1970) Tangier-Krankheit ( Hyp-alpha-Lipoproteinämie ). Dtsch Med Wochenschr 95: 2357–2361Google Scholar
  4. Waldorf DS, Levy RI, Fredrickson DS (1967) Cutaneous cholesterol ester deposition in Tangier disease. Arch Dermatol 95: 161–165PubMedCrossRefGoogle Scholar


  1. Anderson W (1898) A case of angio-“ keratoma.” Br J Dermatol 10: 113–117CrossRefGoogle Scholar
  2. Brady RO, Gal AE, Bradley RM et al. (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Eng J Med 276: 1163–1167Google Scholar
  3. 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 1739–1760Google Scholar
  4. 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)Google Scholar
  5. Fabry J (1898) Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) Arch Dermatol Syph 43: 187–200Google Scholar
  6. Ishibashi A, Tsuboi R, Shinmei M (1984) ß-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. Arch Dermatol 120: 1344–1346PubMedCrossRefGoogle Scholar
  7. Kint JA (1970) Fabry’s disease: alpha-galactosidase deficiency. Science 167: 1268–1269PubMedCrossRefGoogle Scholar
  8. Luderschmidt C, Wolff HH (1980) Heterozygoter Morbus Fabry. Fallbericht mit elektronenmikroskopischer Untersuchung. Hautarzt 31: 372–375Google Scholar
  9. 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: 325–342Google Scholar
  10. Ruiter M (1959) Milestones in dermatology: angiokeratoma corporis diffusum. Excerpta Medica Sect XIII 13: 61–64Google Scholar
  11. Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum: a clinical study of eight affected families. Q J Med 31: 177–206PubMedGoogle Scholar
  12. Brady RO, Barranger JA, Gal AE et al. (1980) Status of enzyme replacement therapy for Gaucher disease. Birth Defects 16: 361–368PubMedGoogle Scholar
  13. Gaucher PCE (1882) De l’épithéliome primitif de la rate. Thèse, ParisGoogle Scholar
  14. 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: 164–169Google Scholar
  15. Lee RE, Robinson DB, Glew RH (1981) Gaucher’s disease. I. Modern enzymatic and anatomic methods of diagnosis. Arch Pathol 105: 102–104Google Scholar
  16. Peters SP, Glew RH, Lee RE (1977) Gaucher’s disease. A review. Medicine (Baltimore) 56: 425–442Google Scholar
  17. 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)Google Scholar
  18. 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: 403–414PubMedCrossRefGoogle Scholar
  19. 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 831–856Google Scholar
  20. 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: 388–390Google Scholar
  21. Crocker AC, Farber S (1958) Nieman-Pick disease: a review of eighteen patients. Medicine (Baltimore) 37: 1–95CrossRefGoogle Scholar
  22. 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)Google Scholar
  23. Niemann A (1914) Ein unbekanntes Krankheitsbild. Jahrb Kinderheilkd 79: 1–10Google Scholar
  24. 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: 519627Google Scholar
  25. Pick L (1933) Niemann-Pick’s disease and other forms of so-called xanthomatosis. Am J Med Sci 185: 601–616Google Scholar
  26. Amirhakimi GH, Haghighi P, Ghalambor MA et al. (1976) Familial lipogranulomatosis ( Farber’s disease ). Clin Genet 9: 625–630Google Scholar
  27. Battin J, Vital CL, Azanca X (1970) Une neurolipidose rare avec lesions nodulaires: la lipogranulomatose de Farber. Ann Dermatol Syph 97: 241–248Google Scholar
  28. 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: 499–500Google Scholar
  29. Farber S, Cohen J, Uzman LL (1957) Lipogranulomatosis: a new lipoglycoprotein “storage” diseases. J Mt Sinai Hosp NY 24: 816–837Google Scholar
  30. 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 820–830Google Scholar
  31. Schmoeckel C, Hohlfeld M (1979) A specific ultrastructural marker for disseminated lipogranulomatosis ( Farber ). Arch Dermatol Res 266: 187–196Google Scholar
  32. Sugita M, Dulaney JT, Moser HW (1972) Ceramidase deficiency in Farber’s disease (lipogranulomatosis). Science 178: 1100–1102PubMedCrossRefGoogle Scholar
  33. Bedoya V, Grimley PM, Duque O (1969) Chédiak-Higashi syndrome. Arch Pathol 88: 340–349PubMedGoogle Scholar
  34. Blume RS, Wolf SM (1972) The Chédiak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 51: 247–280Google Scholar
  35. Boxer LA, Watanabe AM, Rister M et al. (1976) Correction of leukocyte function in Chédiak-Higashi syndrome by ascorbate. N Engl J Med 295: 1041–1045PubMedCrossRefGoogle Scholar
  36. Boxer LA, Hister M, Allen JM (1977) Improvement of Chédiak-Higashi leukocyte function by cyclic guanosine monophosphate. Blood 49: 9–17PubMedGoogle Scholar
  37. 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: 745–751Google Scholar
  38. Chédiak M (1952) Nouvelle anomalie lecocytaire de charactère constitutionnel et familial. Rev Hematol (Paris) 7: 362–367Google Scholar
  39. Higashi O (1954) Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59: 315–322PubMedCrossRefGoogle Scholar
  40. Undritz E (1958) Die Chédiak-Steinbrinck-Anomalie oder erblich-konstitutionelle Riesengranulation (Granulagiganten) der Leukozyten. Schweiz Med Wochenschr 88: 996–999PubMedGoogle Scholar
  41. 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: 381–386PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1991

Authors and Affiliations

  • Otto Braun-Falco
    • 1
  • Gerd Plewig
    • 2
  • Helmut H. Wolff
    • 3
  • Richard K. Winkelmann
    • 4
  1. 1.Dermatologische Klinik und PoliklinikLudwig-Maximilians-Universität MünchenMünchen 2Federal Republic of Germany
  2. 2.Hautklinik der Heinrich-Heine-UniversitätDüsseldorfFederal Republic of Germany
  3. 3.Klinik für Dermatologie und VenerologieMedizinischen Universität zu LübeckLübeck 1Federal Republic of Germany
  4. 4.Dermatology — Dermatopathology, Mayo ClinicMayo Medical SchoolRochesterUSA

Personalised recommendations