Refsum Disease Follow-up

  • Author: Anna Zalewska, MD, PhD; Chief Editor: William D James, MD   more...
 
Updated: Aug 17, 2011
 

Inpatient & Outpatient Medications

In Refsum disease (RD) patients, local drugs should be used for long-term skin care.

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Deterrence/Prevention

Theoretically, prenatal diagnosis supported by testing of cultured amniocytes is possible. Screen all members of a family, including a person with Refsum disease, to reveal other presymptomatic cases.

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Prognosis

Prognosis in untreated patients generally is poor. Dysfunction of myelinated nerve fibers and the cardiac conduction system leads to central and peripheral neuropathic symptoms, impaired vision, and cardiac arrhythmias. The latter frequently are the cause of death.

In early diagnosed and treated cases, phytanic acid decreases slowly, followed by improvement of the skin scaling and, to a variable degree, reversal of recent neurological signs. Retention of vision and hearing are reported.

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Contributor Information and Disclosures
Author

Anna Zalewska, MD, PhD  Professor of Dermatology and Venereology, Psychodermatology Department, Chair of Clinical Immunology and Microbiology, Medical University of Lodz, Poland

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Jacek C Szepietowski, MD, PhD  Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Jeffrey P Callen, MD  Professor of Medicine (Dermatology), Chief, Division of Dermatology, University of Louisville School of Medicine

Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and American College of Rheumatology

Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Electrical Optical Sciences Consulting fee Consulting; Celgene Honoraria Safety Monitoring Committee; GSK - Glaxo Smith Kline Consulting fee Consulting; TenXBioPharma Consulting fee Safety Monitoring Committee

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References

  1. Jansen GA, Ferdinandusse S, Hogenhout EM, Verhoeven NM, Jakobs C, Wanders RJ. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. Adv Exp Med Biol. 1999;466:371-6. [Medline].

  2. Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. Oct 1997;17(2):190-3. [Medline].

  3. Singh I, Pahan K, Singh AK, Barbosa E. Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes. J Lipid Res. Oct 1993;34(10):1755-64. [Medline].

  4. Wanders RJ, Komen J, Ferdinandusse S. Phytanic acid metabolism in health and disease. Biochim Biophys Acta. Sep 2011;1811(9):498-507. [Medline].

  5. Komen JC, Distelmaier F, Koopman WJ, Wanders RJ, Smeitink J, Willems PH. Phytanic acid impairs mitochondrial respiration through protonophoric action. Cell Mol Life Sci. Dec 2007;64(24):3271-81. [Medline].

  6. Foulon V, Asselberghs S, Geens W, Mannaerts GP, Casteels M, Van Veldhoven PP. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?. J Lipid Res. Dec 2003;44(12):2349-55. [Medline].

  7. Horn MA, van den Brink DM, Wanders RJ, et al. Phenotype of adult Refsum disease due to a defect in peroxin 7. Neurology. Feb 27 2007;68(9):698-700. [Medline].

  8. Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. Mar 2004;23(3):209-18. [Medline].

  9. Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. A novel Refsum-like disorder that maps to chromosome 20. Neurology. Jan 6 2009;72(1):20-7. [Medline].

  10. Ferdinandusse S, Zomer AW, Komen JC, van den Brink CE, Thanos M, Hamers FP. Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Proc Natl Acad Sci U S A. Nov 18 2008;105(46):17712-7. [Medline].

  11. Bader PI, Dougherty S, Cangany N, Raymond G, Jackson CE. Infantile refsum disease in four Amish sibs. Am J Med Genet. Jan 17 2000;90(2):110-4. [Medline].

  12. Choksi V, Hoeffner E, Karaarslan E, Yalcinkaya C, Cakirer S. Infantile refsum disease: case report. AJNR Am J Neuroradiol. Nov-Dec 2003;24(10):2082-4. [Medline].

  13. Koh JT, Jeong BC, Kim JH, et al. Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. Biochem Biophys Res Commun. Jan 2 2004;313(1):156-62. [Medline].

  14. Leys D, Petit H, Bonte-Adnet C, et al. Refsum's disease revealed by cardiac disorders. Lancet. Mar 18 1989;1(8638):621. [Medline].

  15. Tran D, Greenhill W, Wilson S. Infantile refsum disease with enamel defects: a case report. Pediatr Dent. May-Jun 2011;33(3):266-70. [Medline].

  16. Verny C, Prundean A, Nicolas G, et al. Refsum's disease may mimic familial Guillain Barre syndrome. Neuromuscul Disord. Nov 2006;16(11):805-8. [Medline].

  17. Cakirer S, Savas MR. Infantile Refsum disease: serial evaluation with MRI. Pediatr Radiol. Feb 2005;35(2):212-5. [Medline].

  18. Gibberd FB, Feher MD, Sidey MC, Wierzbicki AS. Smell testing: an additional tool for identification of adult Refsum's disease. J Neurol Neurosurg Psychiatry. Sep 2004;75(9):1334-6. [Medline].

  19. Duranti G, Boenzi S, Rizzo C, et al. Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. Clin Chim Acta. Dec 2008;398(1-2):86-9. [Medline].

  20. Harari D, Gibberd FB, Dick JP, Sidey MC. Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis). J Neurol Neurosurg Psychiatry. Jul 1991;54(7):614-7. [Medline].

  21. Gutsche HU, Siegmund JB, Hoppmann I. Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease. Acta Neurol Scand. Sep 1996;94(3):190-3. [Medline].

  22. Xu F, Ng VY, Kroetz DL, de Montellano PR. CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. J Pharmacol Exp Ther. Aug 2006;318(2):835-9. [Medline].

  23. Raine CH, Kurukulasuriya MF, Bajaj Y, Strachan DR. Cochlear implantation in Refsum's disease. Cochlear Implants Int. Jun 2008;9(2):97-102. [Medline].

  24. Rüether K, Baldwin E, Casteels M, Feher MD, Horn M, Kuranoff S, et al. Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. Surv Ophthalmol. Nov-Dec 2010;55(6):531-8. [Medline].

  25. Davies MG, Marks R, Dykes PJ, Reynolds D. Epidermal abnormalities in Refsum's disease. Br J Dermatol. Oct 1977;97(4):401-6. [Medline].

  26. Dykes PJ, Marks R, Davies MG, Reynolds DJ. Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease). J Invest Dermatol. Mar 1978;70(3):126-9. [Medline].

  27. Griffiths WAD, Judge MR. Refsum's disease. In: Champion RH, Burton JL, Burns, eds. Rook/Wilkinson/Ebling Textbook of Dermatology. Oxford: Blackwell Science; 1998:1516-17.

  28. Jansen GA, Hogenhout EM, Ferdinandusse S, et al. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet. May 1 2000;9(8):1195-200. [Medline].

  29. Kahlert S, Schonfeld P, Reiser G. The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes. Neurobiol Dis. Feb 2005;18(1):110-8. [Medline].

  30. van den Brink DM, van Miert JN, Dacremont G, Rontani JF, Wanders RJ. Characterization of the final step in the conversion of phytol into phytanic acid. J Biol Chem. Jul 22 2005;280(29):26838-44. [Medline].

  31. Weinstein R. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher. 1999;14(4):181-4. [Medline].

  32. Wierzbicki AS, Mitchell J, Lambert-Hammill M, et al. Identification of genetic heterogeneity in Refsum's disease. Eur J Hum Genet. Aug 2000;8(8):649-51. [Medline].

 
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