Skip to main content
SpringerLink
Log in

Systemic Lipid Storage Diseases

  • Chapter
Dermatology

  • 434 Accesses

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • Rand RE, Baden HP (1983) The ichthyoses — a review. J Am Acad Dermatol 8: 285–305

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

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)

    Chapter  Google Scholar 

  • Assmann G, Smootz E, Adler K et al. (1977) The lipoprotein abnormality in Tangier disease. Quantitation of apoproteins. J Clin Invest 59: 565–575

    Google Scholar 

  • Bale PM, Clifton-Bligh P, Benjamin BNP et al. (1971) Pa- thology of Tangier disease. J Clin Pathol 24: 609–616

    Article  PubMed  CAS  Google Scholar 

Bibliography: Systemic Lipid Storage Diseases 867

  • Fredrickson DS, Altrocchi PH, Avioli LV et al. (1961) Tangier disease. Ann Intern Med 55: 1016–1030

    Article  Google Scholar 

  • 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

    Google Scholar 

  • Huth K, Kracht J, Schoenborn W et al. (1970) Tangier-Krankheit ( Hyp-alpha-Lipoproteinämie ). Dtsch Med Wochenschr 95: 2357–2361

    Google Scholar 

  • Waldorf DS, Levy RI, Fredrickson DS (1967) Cutaneous cholesterol ester deposition in Tangier disease. Arch Dermatol 95: 161–165

    Article  PubMed  CAS  Google Scholar 

Sphingolipidoses

  • Anderson W (1898) A case of angio-“ keratoma.” Br J Dermatol 10: 113–117

    Article  Google Scholar 

  • Brady RO, Gal AE, Bradley RM et al. (1967) Enzymatic defect in Fabry’s disease. Ceramidetrihexosidase deficiency. N Eng J Med 276: 1163–1167

    Google Scholar 

  • 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

    Google Scholar 

  • 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 

  • Fabry J (1898) Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) Arch Dermatol Syph 43: 187–200

    Google Scholar 

  • Ishibashi A, Tsuboi R, Shinmei M (1984) ß-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. Arch Dermatol 120: 1344–1346

    Article  PubMed  CAS  Google Scholar 

  • Kint JA (1970) Fabry’s disease: alpha-galactosidase deficiency. Science 167: 1268–1269

    Article  PubMed  CAS  Google Scholar 

  • Luderschmidt C, Wolff HH (1980) Heterozygoter Morbus Fabry. Fallbericht mit elektronenmikroskopischer Untersuchung. Hautarzt 31: 372–375

    Google Scholar 

  • 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

    Google Scholar 

  • Ruiter M (1959) Milestones in dermatology: angiokeratoma corporis diffusum. Excerpta Medica Sect XIII 13: 61–64

    Google Scholar 

  • Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum: a clinical study of eight affected families. Q J Med 31: 177–206

    PubMed  CAS  Google Scholar 

  • Brady RO, Barranger JA, Gal AE et al. (1980) Status of enzyme replacement therapy for Gaucher disease. Birth Defects 16: 361–368

    PubMed  CAS  Google Scholar 

  • Gaucher PCE (1882) De l’épithéliome primitif de la rate. Thèse, Paris

    Google Scholar 

  • 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

    Google Scholar 

  • Lee RE, Robinson DB, Glew RH (1981) Gaucher’s disease. I. Modern enzymatic and anatomic methods of diagnosis. Arch Pathol 105: 102–104

    Google Scholar 

  • Peters SP, Glew RH, Lee RE (1977) Gaucher’s disease. A review. Medicine (Baltimore) 56: 425–442

    Google Scholar 

  • 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 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • 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

    Google Scholar 

  • Crocker AC, Farber S (1958) Nieman-Pick disease: a review of eighteen patients. Medicine (Baltimore) 37: 1–95

    Article  CAS  Google Scholar 

  • 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 

  • Niemann A (1914) Ein unbekanntes Krankheitsbild. Jahrb Kinderheilkd 79: 1–10

    Google Scholar 

  • 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

    Google Scholar 

  • Pick L (1933) Niemann-Pick’s disease and other forms of so-called xanthomatosis. Am J Med Sci 185: 601–616

    Google Scholar 

  • Amirhakimi GH, Haghighi P, Ghalambor MA et al. (1976) Familial lipogranulomatosis ( Farber’s disease ). Clin Genet 9: 625–630

    Google Scholar 

  • Battin J, Vital CL, Azanca X (1970) Une neurolipidose rare avec lesions nodulaires: la lipogranulomatose de Farber. Ann Dermatol Syph 97: 241–248

    CAS  Google Scholar 

  • 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

    CAS  Google Scholar 

  • Farber S, Cohen J, Uzman LL (1957) Lipogranulomatosis: a new lipoglycoprotein “storage” diseases. J Mt Sinai Hosp NY 24: 816–837

    CAS  Google Scholar 

  • 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

    Google Scholar 

  • Schmoeckel C, Hohlfeld M (1979) A specific ultrastructural marker for disseminated lipogranulomatosis ( Farber ). Arch Dermatol Res 266: 187–196

    Google Scholar 

  • Sugita M, Dulaney JT, Moser HW (1972) Ceramidase deficiency in Farber’s disease (lipogranulomatosis). Science 178: 1100–1102

    Article  PubMed  CAS  Google Scholar 

  • Bedoya V, Grimley PM, Duque O (1969) Chédiak-Higashi syndrome. Arch Pathol 88: 340–349

    PubMed  CAS  Google Scholar 

  • Blume RS, Wolf SM (1972) The Chédiak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 51: 247–280

    CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Boxer LA, Hister M, Allen JM (1977) Improvement of Chédiak-Higashi leukocyte function by cyclic guanosine monophosphate. Blood 49: 9–17

    PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

  • Chédiak M (1952) Nouvelle anomalie lecocytaire de charactère constitutionnel et familial. Rev Hematol (Paris) 7: 362–367

    Google Scholar 

  • Higashi O (1954) Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59: 315–322

    Article  PubMed  CAS  Google Scholar 

  • Undritz E (1958) Die Chédiak-Steinbrinck-Anomalie oder erblich-konstitutionelle Riesengranulation (Granulagiganten) der Leukozyten. Schweiz Med Wochenschr 88: 996–999

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Dermatologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Frauenlobstrasse 9-11, 8000, München 2, Federal Republic of Germany

    Professor Dr. med., Dr. med. h.c. mult. Otto Braun-Falco

  2. Hautklinik der Heinrich-Heine-Universität, Moorenstrasse 5, 4000, Düsseldorf, Federal Republic of Germany

    Professor Dr. med. Gerd Plewig

  3. Klinik für Dermatologie und Venerologie, Medizinischen Universität zu Lübeck, Ratzeburger Allee 160, 2400, Lübeck 1, Federal Republic of Germany

    Professor Dr. med. Helmut H. Wolff

  4. Dermatology — Dermatopathology, Mayo Clinic, Mayo Medical School, 200 First Street SW, 55905, Rochester, MN, USA

    Professor Richard K. Winkelmann MD

Authors
  1. Professor Dr. med., Dr. med. h.c. mult. Otto Braun-Falco
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Professor Dr. med. Gerd Plewig
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Professor Dr. med. Helmut H. Wolff
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Professor Richard K. Winkelmann MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints 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

Publish with us

Policies and ethics

Search

Navigation