CASE REPORT
Presence of a single nucleotide polymorphism (RS3758581) in a boy with DRESS syndrome
 
More details
Hide details
 
Submission date: 2016-05-26
 
 
Final revision date: 2016-09-27
 
 
Acceptance date: 2016-11-16
 
 
Publication date: 2017-12-30
 
 
Cent Eur J Immunol 2017;42(4):409-411
 
KEYWORDS
ABSTRACT
Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a rare, potentially life-threatening, drug-induced hypersensitivity reaction that includes rash, hematologic abnormalities, lymphadenopathy, and internal organ involvement. The pathogenesis of DRESS syndrome is partially understood. Various medications have been described as the cause of DRESS syndrome. Phenytoin and allopurinol are the most commonly reported culprit drugs, although more than 50 drugs can induce DRESS syndrome. Members of the cytochrome P450 (CYP) superfamily are the most commonly involved enzymes in metabolism of drugs such as phenytoin. This case report addresses the influence of CYP2C9 genetic polymorphism (a single nucleotide polymorphism) on phenytoin drug metabolism, thereby causing DRESS syndrome.
REFERENCES (18)
1.
Bocquet H, Bagot M, Roujeau JC (1996): Drug-induced pseudolymphoma and drug hypersensitivity syndrome (drug rash with eosinophilia and systemic symptoms): DRESS. Semin Cutan Med Surg 15: 250-257.
 
2.
Cacoub P, Musette P, Descamps V, et al. (2011): The DRESS syndrome: A literature review. Am J Med 124: 588-597.
 
3.
Chen YC, Chiu HC, Chu CY (2010): Drug reaction with eosinophilia and systemic symptoms: a retrospective study of 60 cases. Arch Dermatol 146: 1373-1379.
 
4.
Um SJ, Lee SK, Kim YH, et al. (2010): Clinical features of drug induced hypersensitivity syndrome in 38 patients. J Invest Allergol Clin Immunol 20: 556-562.
 
5.
Wongkitisophon P, Chanprapaph K, Rattanakaemakorn P, et al. (2012): Six year retrospective review of drug reaction with eosinophilia and systemic symptoms. Acta Derm Venereol 92: 200-205.
 
6.
Ding WY, Lee CK, Choon SE (2010): Cutaneous adverse drug reactions seen in a tertiary hospital in Johor, Malaysia. Int J Dermatol 49: 834-841.
 
7.
Chung WH, Chang WC, Lee YS, et al. (2014): Genetic variants associated with phenytoin-related severe cutaneous adverse reactions. JAMA 312: 525-534.
 
8.
Chung WH, Hung SI (2012): Risk assessment for phenytoIn-Induced adverse drug reactIons United States. Patent number.0329045 A1: UnIted States Patent Application Publication.
 
9.
Kocaoglu C, Cilasun C, Solak ES, et al. (2013): Successful treatment of antiepileptic drug-induced DRESS syndrome with pulse methylprednisolone. Case Rep Pediatr 2013: 928910.
 
10.
Cacoub P, Musette P, Descamps V, et al. (2011): The DRESS syndrome: a literatüre review. Am J Med 124: 588-597.
 
11.
Kardaun SH, Sidoroff A, Valeyrie-Allanore L, et al. (2013): Variability in the clinical pattern of cutaneous side-effects of drugs with systemic symptoms: does a DRESS syndrome really exist? Br J Dermatol 169: 1071-1080.
 
12.
Babu SP, Ramesh V, Samidorai A, et al. (2013): Cytochrome P450 2C9 gene polymorphism in phenytoin induced gingival enlargement: A case report. J Pharm Bioallied Sci 5: 237-239.
 
13.
Tassaneeyakul W, Prabmeechai N, Sukasem C, et al. (2016): Associations between HLA class I and cytochrome P450 2C9 genetic polymorphisms and phenytoin-related severe cutaneous adverse reactions in a Thai population. Pharmacogenet Genomics 26: 225-234.
 
14.
Takanashi K, Tainaka H, Kobayashi K, et al. (2000): CYP2C9 Ile359 and Leu359 variants: enzyme kinetic study with seven substrates. Pharmacogenetics 10: 95-104.
 
15.
Kesavan R, Narayan SK, Adithan C (2010): Influence of CYP2C9 and CYP2C19 genetic polymorphisms on phenytoin- induced neurological toxicity in Indian epileptic patients. Eur J Clin Pharmacol 66: 689-696.
 
16.
Depondt C, Godard P, Espel RS, et al. (2011): A candidate gene study of antiepileptic drug tolerability and efficacy identifies an association of CYP2C9 variants with phenytoin toxicity. Eur J Neurol 18: 1159-1164.
 
17.
Niinuma Y, Saito T, Takahashi M, et al. (2014): Functional characterization of 32 CYP2C9 allelic variants. Pharmacoge­nomics J 14: 107-114.
 
18.
Twardowschy CA, Werneck LC, Scola RH, et al. (2011): CYP2C9 polymorphism in patients with epilepsy: genotypic frequency analyzes and phenytoin adverse reactions correlation. Arq Neuropsiquiatr 69: 153-158.
 
eISSN:1644-4124
ISSN:1426-3912
Journals System - logo
Scroll to top