ABSTRACT
Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene folliculin (FLCN ). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, FLCN gene mutations (‘c.1285dupC [p.His429Profs*]’ 11th exon and ‘c.653G>A [p.Arg258His]’ 7th exon). The second case a 76-year-old female had trichodiscoma on her skin, multiple cysts in the lung, spontaneous pneumothorax, FLCN gene mutation ‘c.1285dupC (p.His429Profs*27) 11th exon’ and, her son had renal carcinoma history under 50 years of age. Our third case, also the daughter of case 2, had dermal papules histopathology compatible with trichodiscoma, spontaneous pneumothorax, FLCN gene mutation ‘c.1285dupC (p.His429Profs*27) 11th exon’ and, parotid oncocytoma. Through our cases, we document the first case of two mutations (‘c.1285dupC [p.His429Profs*]’ 11th exon and ‘c.653G>A [p.Arg258His]’ 7th exon) in the same FLCN gene and the 11th known case of parotid oncocytoma associated with BHDS in the light of the literature.
ABSTRACT
Objective: To determine the role of glutathione S-transferase [GST] isoenzyme polymorphisms as susceptibility factors in patients with psoriasis in a Turkish cohort
Subjects and Methods:In this case-control study, 105 patients with plaque-type psoriasis and 102 healthy controls were recruited from the dermatology outpatient clinics of two university hospitals. Genomic DNA was extracted from whole blood using a DZ DNA isolation kit. Multiplex PCR was used to determine GSTM1 and GSTT1 polymorphisms in the isolated DNAs
Results:Of the 150 patients with psoriasis, 83 [79%] were identified with the GSTT1 genotype and 22 [21%] with the null genotype. Of the 102 patients in the control group, 69 [67.6%] subjects were identified with the GSTT1 genotype and 33 [32.4%] with the null genotype. There was no significant difference between the patient and control groups [p = 0.063]. Regarding the GSTM1 polymorphism, 54 [51.4%] patients were identified with this genotype and 51 [48.6%] with the null genotype; in the control group, 50 [49%] were identified with this genotype and 52 [51%] with the null geno- type. Again there was no statistically significant difference between the groups [p = 0.957]
Conclusion:In this Turkish cohort of patients with psoriasis, neither GSTT1 nor GSTM1 polymorphisms were associated with disease susceptibility. Larger studies with a wider range of GST isoenzyme are needed