ABSTRACT. Vitiligo is an acquired depigmentary disorder of the skin, characterized by multiple susceptibility loci and genetic heterogeneity. The etiology of vitiligo is unknown but several hypotheses, including an autoimmune origin, have been proposed. Tumor necrosis factor (TNF)-α, a pleiotropic proinflammatory cytokine, has been shown to play a critical role in several autoimmune diseases including vitiligo. The aim of present study was to determine the association of TNF-α and -β gene polymorphisms with vitiligo in Saudi patients. TNF-α and -β genes were amplified in 123 Saudi patients and 200 matched controls using polymerase chain reaction to search for polymorphisms involved at positions -308, and intron 1 +252. The frequency of the TNF-α (-308) GA genotype was higher and the frequencies of the GG and AA genotypes were significantly lower in vitiligo patients compared to controls. These findings suggested that genotype GA-positive individuals at position -308 of TNF-α are susceptible to vitiligo, whereas the GG and AA genotypes might exert a protective effect. The frequency of allele A (TNF-α 2-allele) was significantly higher and that of allele G (TNF-α 1-allele) was lower in vitiligo patients compared to controls, indicating an association of allele A with susceptibility to TNF-α and -β polymorphisms in vitiligo vitiligo in Saudi patients. The results of our examination of TNF-β (intron 1 +252) polymorphisms showed a significant increase in the frequency of the GG genotype and allele G (TNF-b 1-allele) in vitiligo patients, suggesting a susceptibility of the GG genotype and allele G for vitiligo. By contrast, the high frequency of the GA genotype in controls might indicate a protective effect. The results of the present study strongly support a link between TNF-α (-308) and -β (intron 1 +252) polymorphisms and vitiligo in Saudi patients.

Background/Aim. Apolipoprotein E (APOE) gene variants have been reported to influence psoriasis risk. However, data is limited to a few ethnicities and no similar study has been performed in middle eastern populations. We investigated this association in Saudi psoriasis patients. Methods. Saudi subjects (294) were genotyped for APOE gene using APOE StripAssay kit. Results. The frequencies of alleles ε2, ε4, and genotypes ε3/ε4 and ε3/ε2 were significantly higher in psoriasis patients compared with those in controls. The frequency of ε3 allele and ε3/ε3 genotype was significantly lower in patients. Other genotypes, ε2/ε4, ε2/ε2, and ε4/ε4, were absent in both groups. The serum cholesterol, triglycerides, and LDL levels were significantly higher in psoriasis patients contrary to HDL level. Patients with APOE ε4 had significantly higher levels of total cholesterol and LDL cholesterol, whereas those with the ε2 had higher HDL cholesterol, and triglycerides. Conclusion. APOE alleles ε2, ε4, and genotypes ε2/ε3 and ε4/ε3 are associated with psoriasis and can be a risk factor while allele ε3 and genotype ε3/ε3 may be protective for psoriasis in Saudis. Results of lipid profile support that psoriasis is one of the independent risk factors for hyperlipidemia and emphasize the need of screening cardiovascular diseases in psoriatic patients.

The promoter region of human Interleukin −10 gene is highly polymorphic and has been associated with numerous autoimmune diseases. Recent studies have linked vitiligo with defective autoimmune system. This study is aimed to explore a possible association between IL-10 gene polymorphism and vitiligo in Saudi population. This case control study consisted of 184 Saudi subjects including 83 vitiligo patients (40 males, 43 females mean age 27.85 ± 12.43 years) and 101 matched controls. Genomic DNA was extracted from the blood samples of healthy controls and Vitiligo patients visiting out patient clinic of Department of Dermatology, Riyadh Armed Forces Hospital, using QIA ampR DNA mini kit (Qiagen CA, USA). Interleukin-10 gene was amplified by polymerase chain reaction (PCR) using Arms primers to detect any polymorphism involved at positions −592, −819 and −1082.The frequencies of GG genotype at −1082, and CC genotype at positions −592 and 819 were significantly higher in vitiligo patients compared to healthy subjects suggesting that GG and CC genotypes might be susceptible to vitiligo in Saudis. On the other hand genotypes −1082 GA, −819 CT, and −592 CA of IL-10 were more prevalent in healthy controls suggesting protective effects of GA, CT and CA genotypes against vitiligo. This study indicates that the IL-10 gene may play a significant role in the etiology of vitiligo among Saudis.

HLA complex is composed of several closely linked loci, each containing several alleles, yielding a high expression of polymorphism. Vitiligo, a commonly acquired dermatological disorder, has been associated with different HLA antigens in different ethnic groups. In this study, HLA classes I (HLA-A, B, and C) and II (HLA-DR, DQ) antigens/alleles were analyzed in a group of 80 Saudi subjects consisting of vitiligo patients (40) and matched controls (40). The frequency of antigens of various HLA loci was tested using two-stage microcytotoxicity assays, while the frequency of alleles of HLA-DR was screened by polymerase chain reaction/sequence specific primers (PCR/SSP) method. The frequencies of HLA-B7, B15, Bw6, Cw6, Cw7, and DRB4*010101 were found to be significantly higher in vitiligo patients compared to controls [P = 0.029, 0.015, 0.033, 0.009, 0.043, and 0.015, respectively, with relative risk (RR) > or = 3, etiologic fraction (EF) > or = 0.4]. On the other hand, HLA-A9, B5, DQ1, and DRB3*010101 were significantly decreased in vitiligo patients compared to healthy Saudis [P = 0.008, 0.004, 0.028, and 0.04, respectively, with RR < 1 and preventive fraction (PF) < 0.5]. Among the patients, the highest allele frequency was noted for DRB4*010101(70%), while in controls it was for DRB3*010101 (72.5%). These results for antigens and allele frequency of various HLA Loci in vitiligo patients and control subjects suggested that HLA-B7, Bw6, Cw6, Cw7, and DRB4*010101 could be susceptible to vitiligo, while HLA-A9, B5, DQ1, and DRB3*010101 might be negatively associated with the development of vitiligo in Saudis.

Mammographic appearance of ''breast in breast'' is almost classic to breast hamartoma. Although the lesion is almost always benign, there are case reports showing cancer inside breast hamartomas, so complete excision is the only way to rule out malignancy. Local complete excision with clear margins is appropriate for the treatment and final diagnosis.To our knowledge this is the first report with a complete description of a myoid hamartoma with its clinical, radiologic, gross pathologic, and microscopic features.A 62-year-old man presented with pain, bloody stained discharge and swelling of the right breast. In addition, he had skin lesions below the right breast. On examination, he was found to have retracted nipple and a hard, immobile and slightly tender mass of tissue, around 3 · 2 cm in diameter, in the right breast. Also, he had several dusky red and nontender papulonodules distributed over the right side of the chest, below the right breast extending to the back in a zosteriform distribution along T4 and T5 dermatomes ( Fig. 1). Right axillary and cervical lymph nodes were also enlarged.Fine needle aspiration was done from the right breast and right axillary lymph nodes, which showed infiltrating ductual carcinoma. Biopsy from the skin lesions of the affected area showed poorly differentiated adenocarcinoma compatible with breast primary carcinoma (Fig. 2). Other investigations including X-rays, CT scans, ultrasounds and bone scan showed distant metastasis to the lungs, liver, bones and brain.The patient underwent debulking of his breast tumor, followed by chemotherapy and radiotherapy but he did not progressed and died 18 months after his initial presentation.Male breast carcinoma is a rare disease with manifestations including breast mass, nipple retraction, Figure 1. (a and b) Red papulonodules (arrow) extending from below the right breast to the back in a zosteriform distribution. 88 • al zouman and al harthi