Chanarin Dorfman Syndrome: A Case Report
Abstract
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings.
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References
- 1. Selimoglu MA, Esrefoglu M, Gul M, Gungor S, Yildirim C, Seyhan M. Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder. Pediatr Dermatol. 2009;26:40-3.
- 2. Arslansoyu Çamlar S, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Emre Dökmeci S et al. Chanarin-dorfman syndrome with multi-system involvement in two siblings. Turk J Haematol. 2013;30:72-5.
- 3. Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereo. 2000;80:39-43.
- 4. Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, González-Enseñat MA et al. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome. Brit J Dermatol. 2005;153:838-41.
- 5. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol. 1974;110:261-6.
- 6. Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral lipid storage disease: a new disorder of lipid metabolism. Br Med J. 1975;8:553-5.
- 7. Gürakan F, Kaymaz F, Koçak N, Örs Ü, Yüce A, Atakan N. A cause of fatty liver: neutral lipid storage disease with ichthyosis-electron microscopic findings. Digest Dis Sci. 1999;44:2214-7.
- 8. Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, et al: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in ChanarinDorfman syndrome. Am J Hum Genet. 2001;69:1002- 12.
- 9. Ersoy O, Alkım C, Onuk MD, Demirsoy H, Argon D. A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report. Int J Hepatol 2011; 341372 doi:10.4061/2011/341372.
- 10. Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E. Beneficial effect of acitretin in Chanarin-Dorfman syndrome. Clin Exp Dermatol. 2012;37:31-3.
