Chanarin-Dorfman syndrome: A case report

Annals of Saudi Medicine

Volumn 22, Issue 5-6, 2002, Pages 354-355

  Al Qahtani, Fakherah N ^a   Salloum, Abdullah A ^a  

^a IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOPHOSPHAMIDE; METHYLPREDNISOLONE; PREDNISOLONE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHANARIN DORFMAN SYNDROME; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; FEMALE; HUMAN; HUMAN TISSUE; LABORATORY TEST; LIPIDOSIS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN MANIFESTATION;

EID: 0036765362     PISSN: 02564947     EISSN: None     Source Type: Journal    
DOI: 10.5144/0256-4947.2002.354     Document Type: Article

References (10)

1. Srebrnik A, Tu E, Perluk C, Elman M, Messer G. Ilie B, Krakowski Dorfman-Chanarin syndrome. J Am Acad Dermatol 1987; 17:801-8.
2. Wolf R, Zaitzky A, Pollak S. Value of looking at leukocytes in every case of ichthyosis. Dermatologica 1988;177:237-40.
3. Rozenszajn L, Klajman A, Yaffe D, Efrati P. Jordan's anomaly in white blood cells. Blood 1966;2:258-65.
4. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974;110:261-6.
5. Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. BMJ 1975;1:553-5.
6. Pena-Penabad C, et al. Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol 2001;144:445-8.
7. Elias PM, Williams ML. Neutral lipid storage disease with ichthyosis: defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985;121:1000-8.
8. Williams ML, Koch TK, O'Donnell JJ, et al. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1985;20:711-26.
9. Radom J, Salvayre R, Negre A, et al. Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy. Eur J Biochem 1987;164:703-8.
10. Jordans GH. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculurum progressiva. Acta Med Scand 1953;146:419-26.