Dorfman-Chanarin syndrome: A case with hyperlipidemia

Turkish Journal of Pediatrics

Volumn 48, Issue 3, 2006, Pages 263-265

  Düzovali, Öznur ^a   Ikizoǧlu, Güliz ^a   Turhan, Ali Haydar ^a   Yilgör, Esat ^a  

^a MERSIN UNIVERSITY   (Turkey)

Author keywords

Congenital ichthyosis; Cytoplasmic vacuoles; Lipid storage disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SMEAR; CASE REPORT; DORFMAN CHANARIN SYNDROME; DRY SKIN; FACE ERYTHEMA; HEPATOMEGALY; HUMAN; HYPERLIPIDEMIA; LABORATORY TEST; LIPID ANALYSIS; LIPIDOSIS; LYMPHADENOPATHY; MALE; MONOCYTE; NEUTROPHIL; PALPATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SKIN DISEASE; SKIN EXAMINATION; SPLENOMEGALY; TURKEY (REPUBLIC); ULTRASOUND; XERODERMA;

CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HUMANS; HYPERLIPIDEMIAS; ICHTHYOSIS, LAMELLAR; MALE; NEUTROPHILS; TURKEY;

EID: 33750720608     PISSN: 00414301     EISSN: 00414301     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Avigdor S, Tur E, Perluk C, et al. Dorfman-Chanarin syndrome. A case report and a review. J Am Acad Dermatol 1987; 17: 801-808.
2. Wollenberg A, Geiger E, Schaller M, Wolff H. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils. Acta Derm Venereol 2000; 80: 39-43.
3. Mela D, Artom A, Goretti R, et al. Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement. J Hepatol 1996; 25: 769-771.
4. Banuls J, Betlloch I, Botella R, Sevila A, Morell A, Roman P. Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report. Clin Exp Dermatol 1994; 19: 434-437.
5. Williams ML, Koch TK, O'Donnell JJ, et al. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1985; 20: 711-726.
6. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974; 110: 261-266.
7. 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; 1: 553-555.
8. Angelini C, Philippart M, Borrone C, Bresolin N, Cantini M, Lucke S. Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. Ann Neurol 1980; 7: 5-10.
9. 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: 2214-2217.
10. Lefévre C, Jobard F, Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001; 69: 1002-1012.
11. Penabad CP, Almagro M, Martinez W, et al. Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001; 144: 430-432.
12. Srebrnik A, Brenner S, Ilie B, Messer G. Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases. Am J Dermatopathol 1998; 20: 79-85.
13. Scheimberg I, Harper JI, Malone M. Inherited ichthyoses: a review of the histology of the skin. Pediatr Pathol Lab Med 1996; 16: 359-378.
14. Venencie PY, Armengaud D, Foldes C, Vieillefond A, Coulombel L, Hadchouel M. Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). Pediatr Dermatol 1998; 5: 173-177.
15. Judge MR, Atherton DJ, Salvayre R, et al. Neutral lipid storage disease. Case report and lipid studies. Br J Dermatol 1994; 130: 507-510.
16. Musumeci S, D'Agata A, Romano C, Patané R, Cutrona D. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1988; 29: 377-382.