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A case with full clinical manifestations of Dorfman-Chanarin syndrome

  • Case Report
  • Published:
Central European Journal of Medicine

Abstract

Dorfman-Chanarin syndrome (DCS), is a rare, autosomal recessive disorder associated with lipid metabolism. It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable involvement of organs. We report a Turkish man with the complete syndrome, who described family history of ichthyosis. To best of our knowledge this is the sixth case from Turkish origin to date. In addition to congenital ichthyosis he had also strabismus, horizantal nystagmus, bilateral neurosensory hearing loss, hepatomegaly and splenomegaly. Liver biopsy revealed hidrophic degeneration in hepatocytes, steatosis, enlargement and inflammation in portal areas and portal central fibrosis, consistent with cirrhosis. Write stained peripheral blood smear examination revealed lipid vacuoles in all of the neutrophils consistent with Jordan’s anomaly. We think that, it is essential to evaluate the peripheral blood smear of the patients with ichthyosis and also patients with DCS should be informed and warned about the results of consanquinous marriage.

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References

  1. F.N. Al-Qahtani and A.A. Salloum: “Chanarin-Dorfman Syndrome: A Case Report”, Ann. Saudi. Med., Vol. 22, (2002), pp. 354–355.

    PubMed  Google Scholar 

  2. D. Mela, A. Artom, R. Goretti, G. Varagona, M. Riolfo, S. Ardoino, G. Sanguineti, A. Vitali and S. Ricciardi: “Dorfman-Chanarin Syndrome: A Case With Prevalent Hepatic Involvement”, J. Hepatol., Vol. 25, (1996), pp. 769–771.

    Article  PubMed  CAS  Google Scholar 

  3. Z. El-Kabbany, M. Rashad, R. Tareef, N. Galal and S.M. Eisayed: “Dorfman-Chanarin Syndrome in Eygpt”, Am. J. Med. Genet. A, Vol. 121, (2003), pp. 75–78.

    Article  Google Scholar 

  4. H. Nagai, Y. Oshima, H. Hirota, M. Izumi, S. Sugiyama, Y. Nakaoka, K. Terai, S. Hasegawa, H. Tateyama, M. Kikui, K. Yamauchi-Takihara and I. Kawase: “Specific Cardiomyopathy Caused by Multisystemic Lipid Storage in Jordans’ Anomaly”, Intern. Med., Vol. 42, (2003), pp. 587–590.

    PubMed  Google Scholar 

  5. R. Srinivasan, N. Hadžic, J. Fischer and A.S. Knisely: “Steatohepatitis and Unsuspected Micronodular Cirrhosis in Dorfman-Chanarin Syndrome With Documented ABHD5 Mutation”, J. Pediatr., Vol. 144, (2004), pp. 662–665.

    Article  PubMed  CAS  Google Scholar 

  6. T. Doganci, F. Gurakar, A. Karaduman, D. Orhan and M. Caglar: “Images of Ýnterest. Hepatobiliary and Pancreatic: Dorfman-Chanarin Syndrome”, J. Gastroenterol. Hepatol., Vol. 20, (2005), p. 156.

    Article  PubMed  CAS  Google Scholar 

  7. A.D. Amarapurkar, A. Kher, R. Agrawal, B. Meenakshi, B.M. Kandalkar and J.R. Deshpande: “A Rare Cause of Steatohepatitis”, Trop. Gastroenterol., Vol. 25, (2004), pp. 176–177.

    PubMed  CAS  Google Scholar 

  8. E. Taţkın, S. Akarsu, A. Denizmen Aygün, F. Özlü and M. Kılıç: “Rickets With Dorfman-Chanarin Syndorome: A Case Report”, Turkish J. Haematology, Supp., Vol. 22, (2005), Abstract: 798, Poster: 705.

  9. A. Nanda, R. Sharma, A.J. Kanwar, S. Kaur and S. Dash: “Dorfman-Chanarin Syndrome”, Int. J. Dermatol., Vol. 29, (1990), pp. 349–351.

    PubMed  CAS  Google Scholar 

  10. A. Wollenberg, E. Geiger, M. Schaller and H. Wolff: “Dorfman-Chanarin Syndrome in a Turkish Kindred: Conductor Diagnosis Requires Analysis of Multiple Eosinophils”, Acta Derm. Venereol., Vol. 80, (2000), pp. 39–43.

    Article  PubMed  CAS  Google Scholar 

  11. M.S. Tullu, M.N. Muranjan, S.U. Save, C.T. Deshmukh, S.R. Khubchandani and B.A. Bharucha: “Dorfman-Chanarin Syndrome: A Rare Neutral Lipid Storage Disease”, Ind. Pediatr., Vol. 37, (2000), pp. 88–93.

    CAS  Google Scholar 

  12. C. Pena-Penabad, M. Almagro, W. Martinez, J. Garcia-Silva, J. Del Pozo, M.T. Yebra, C. Sanchez-Manzano and E. Fonseca: “Dorfman-Chanarin Syndrome (neutral lipid storage disease): New Clinical Features”, Br. J. Dermatol., Vol. 144, (2001), pp. 430–432.

    Article  PubMed  CAS  Google Scholar 

  13. A. Srebrnik, S. Brenner, B. Ilie and G. Messer: “Dorfman-Chanarin Syndrome: Morphologic Studies and Presentation of New Cases”, Am. J. Dermatopathol., Vol. 20, (1998), pp. 79–85.

    Article  PubMed  CAS  Google Scholar 

  14. M. Akiyama, D. Sawamura, Y. Nomura, M. Sugawara and H. Shimizu: “Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome”, J. Invest. Dermatol., Vol. 121, (2003), pp. 1029–1034.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Internal Medicine, Medical Faculty, Gazi University, 06500, Ankara, Turkey

    Fatma Neslihan Çuhaci

  2. Division of Nephrology, Department of Internal Medicine, Medical Faculty, Gazi University, 06500, Ankara, Turkey

    Rüya Mutluay & Yasemin Erten

  3. Department of Dermatology, Medical Faculty, Gazi University, 06500, Ankara, Turkey

    Burhan Ahmet Aksakal

Authors
  1. Fatma Neslihan Çuhaci
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  2. Rüya Mutluay
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  3. Burhan Ahmet Aksakal
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  4. Yasemin Erten
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Çuhaci, F.N., Mutluay, R., Aksakal, B.A. et al. A case with full clinical manifestations of Dorfman-Chanarin syndrome. cent.eur.j.med 2, 116–121 (2007). https://doi.org/10.2478/s11536-007-0010-x

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  • DOI: https://doi.org/10.2478/s11536-007-0010-x

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