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.
[1] F.N. Al-Qahtani and A.A. Salloum: “Chanarin-Dorfman Syndrome: A Case Report”, Ann. Saudi. Med., Vol. 22, (2002), pp. 354–355. Search in 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. http://dx.doi.org/10.1016/S0168-8278(96)80251-010.1016/S0168-8278(96)80251-0Search in 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. http://dx.doi.org/10.1002/ajmg.a.1018810.1002/ajmg.a.10188Search in Google Scholar PubMed
[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. Search in 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. http://dx.doi.org/10.1016/j.jpeds.2004.01.03610.1016/j.jpeds.2004.01.036Search in Google Scholar PubMed
[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.x10.1111/j.1440-1746.2004.03752.xSearch in Google Scholar PubMed
[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. Search in 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. Search in Google Scholar
[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. Search in 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. http://dx.doi.org/10.1080/00015550075001250410.1080/000155500750012504Search in Google Scholar PubMed
[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. Search in 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. http://dx.doi.org/10.1046/j.1365-2133.2001.04051.x10.1046/j.1365-2133.2001.04051.xSearch in Google Scholar PubMed
[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/10.1097/00000372-199802000-0001610.1097/00000372-199802000-00016Search in Google Scholar PubMed
[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.x10.1046/j.1523-1747.2003.12520.xSearch in Google Scholar PubMed
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