PL EN


Preferences help
enabled [disable] Abstract
Number of results
Journal
2007 | 2 | 1 | 116-121
Article title

A case with full clinical manifestations of Dorfman-Chanarin syndrome

Content
Title variants
Languages of publication
EN
Abstracts
EN
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.
Publisher

Journal
Year
Volume
2
Issue
1
Pages
116-121
Physical description
Dates
published
1 - 3 - 2007
online
1 - 3 - 2007
Contributors
author
author
  • Division of Nephrology, Department of Internal Medicine, Medical Faculty, Gazi University, 06500, Ankara, Turkey
  • Department of Dermatology, Medical Faculty, Gazi University, 06500, Ankara, Turkey
author
  • Division of Nephrology, Department of Internal Medicine, Medical Faculty, Gazi University, 06500, Ankara, Turkey
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.
  • [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. http://dx.doi.org/10.1016/S0168-8278(96)80251-0[Crossref]
  • [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. http://dx.doi.org/10.1002/ajmg.a.10188[Crossref]
  • [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.
  • [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. http://dx.doi.org/10.1016/j.jpeds.2004.01.036
  • [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. http://dx.doi.org/10.1111/j.1440-1746.2004.03752.x[Crossref]
  • [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.
  • [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.
  • [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. http://dx.doi.org/10.1080/000155500750012504[Crossref]
  • [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.
  • [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. http://dx.doi.org/10.1046/j.1365-2133.2001.04051.x[Crossref]
  • [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. http://dx.doi.org/10.1097/00000372-199802000-00016[Crossref]
  • [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. http://dx.doi.org/10.1046/j.1523-1747.2003.12520.x[Crossref]
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.-psjd-doi-10_2478_s11536-007-0010-x
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.