Coexistence of Polyarteritis Nodosa of the Vulva and Retina in a Behçet's Disease Patient: A Case Report.

Polyarteritis nodosa (PAN) is a multisystem disease that may affect the vessels of multiple organ systems. It has clinical variants including single-organ disease and cutaneous-only PAN. To our knowledge, this is a unique case report describing the coexistence of PAN of the vulva and retina in a Behçet's disease (BD) patient.  We report a case of a 31-year-old Lebanese woman with painful genital ulcers and multiple oral aphthae associated with arthralgia, light flashes, blurry vision, and photosensitivity. There were well-defined, punched-out erosions over the buccal and gingival mucosa; specifically, multiple punched-out, deep ulcers with unremarkable borders and black eschar involving two-thirds of both labia majora and minora sparing the clitoris with bilateral inguinal lymphadenopathy. Dilated fundus examination showed a few cotton wool spots and intraretinal hemorrhage. Fundus fluorescein angiography showed multiple arteriolar infarctions involving the macula in both eyes, more so in the right eye. Vulvar biopsy was consistent with PAN due to the involvement of a medium-sized subcutaneous artery and showed neutrophilic infiltration of its wall. Stain for elastic lamina showed medium-sized subcutaneous artery involvement. After ruling out infectious aetiologies, she was managed by intravenous pulse methylprednisolone 1,000 mg for three days, followed by oral prednisolone 50 mg with a slow taper, oral colchicine 0.5 mg twice daily, and adalimumab 40 mg once every two weeks to stop the progression of the ocular insult and genital mutilation. There was significant improvement of the ulcer with no new cutaneous or systemic manifestations. This case report highlights the importance of considering PAN-like lesions in cases of Behçet's disease. We emphasized the addition of cutaneous PAN as one of the cutaneous manifestations of BD.

Association between polymorphisms in PRNCR1 and risk of colorectal cancer in the Saudi population.

LncRNA Prostate cancer non-coding RNA (PRNCR1) is downregulated in many types of cancer. The current case-control study was performed on 144 patients with colorectal cancer and 130 matching controls. Genotyping was performed using TaqMan assays for four Single Nucleotide Polymorphisms (SNPs) in PRNCR1. RNAsnp Web Server was used to detect variations in the secondary structure for each SNP. The genotyping analysis for SNP rs1456315 showed increased association with colorectal cancer with the homozygous CC variant allele (OR: 2.09; χ2 = 4.95; CI: 1.08-4.02; p = 0.02), the minor allele frequency, and additive genotype, respectively (OR: 1.55; χ2 = 6.24; CI: 1.09-2.19; p = 0.01) & (OR: 1.64; χ2 = 4.04; CI: 1.01-2.67; p = 0.04). A risk association was also observed among younger age patients (≤57) and in female patients as well as in patients with tumors of the colon. For the other SNPs tested (rs16901946, rs13252298, rs1016343), no significant association was observed. The secondary structure of the rs1456315 mutant is different from that of the wild-type. Our findings suggest that the upregulation of PRNCR1 and its variants is associated with increased risk of colorectal cancer in Saudi patients, indicating that PRNCR1 might be a unique and valuable signature for predicting the risk of colorectal cancer in a Saudi population.

Manifestations of ocular rosacea in females with dark skin types.

BACKGROUND: Current knowledge about ocular rosacea in dark skin individuals is lacking. The prevalence of ocular rosacea varies considerably among studies and is probably higher than previously presumed. OBJECTIVE: To estimate the prevalence and pattern of ocular rosacea among dark skinned female patients, compare it with fair skinned, and to correlate the severity of cutaneous disease with ocular findings. METHOD: Female patients diagnosed with rosacea between 2011 and 2013 were studied prospectively. They were referred to ophthalmology for clinical observations and slit lamp examination. In all patients Schirmer and Tear break up time tests to diagnose dry eye were performed. RESULT: Fifty six consecutive female patients, joined the study with different skin types ranging from skin type 4 to 6. A total of 43 patients (76.8%) were positive for ophthalmologic findings. The most frequent symptoms were itching, burning sensation and redness, while the most frequent signs were meibomian gland dysfunction, dry eyes, eyelid telangiectasia and irregular margin. Significant correlation was noted between meibomian gland dysfunction and irregular lid margin (P = 0.003). Dry eye and Schirmer test significantly correlated with eye lid telangiectasia (p = 0.004; 0.015) respectively. No significant correlation was found between the severity of cutaneous disease and ocular findings. CONCLUSION: Ocular rosacea in dark skinned females is a common presentation and is comparable to that reported for fair skin, with eyelid telangiectasia and meibomian gland dysfunction being early phenomena. Earlier onset and more benign course were seen compared to other studies. Ocular and cutaneous rosacea are independent of each other.

Novel mutations in IL-10 promoter region -377 (C>T), -150 (C>A) and their association with psoriasis in the saudi population.

BACKGROUND: Psoriasis, a common cutaneous disorder characterized by inflammation and abnormal epidermal proliferation with a prevalence of 2-3% in the general population, may be linked to certain types of cancer. Several studies have reported an association between interleukin 10 (IL-10) variant polymorphisms and inflammatory diseases such as psoriasis vulgaris although the results vary according to the population studied. No studies have been performed in the Saudi population. The present study concerned novel variants and other genetic polymorphisms of the promoter and exonic regions of the IL10 gene in patients with moderate to severe psoriasis and potential differences in genotype compared to a group of healthy volunteers. MATERIALS AND METHODS: Patients with moderate to severe psoriasis and healthy controls with no personal or family history of psoriasis were selected from the central region of Saudi Arabia. Polymorphisms of the IL 10 gene of both groups were genotyped. RESULTS: We observed two novel variants in 5'UTR region of the promoter precursor with higher prevalence of the genotype with both wild-type alleles in patients compared to the healthy control group. The differences at positions -377 and -150 were significantly associated with disease, both the variants conferred strong protection against psoriasis in Saudi patients. CONCLUSIONS: This observation provides further support for the importance of the part that IL10 plays in the pathophysiology of this disease. Confirmation of our findings in larger populations of different ethnicities would provide evidence for the role of IL-10 in psoriasis.

Rosacea and chronic rhinosinusitis: a case-controlled study.

OBJECTIVE: To determine the relationship between rosacea, chronic rhinosinusitis (CRS), and the clinical presentation of rosacea. SUBJECTS AND METHOD: Twenty-eight female Saudi patients diagnosed with rosacea at the Dermatology Clinic, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, between September 2011 and September 2012 and 20 age- and sex-matched control patients were included in the study. Paranasal sinus X-rays and assessments of the serum concentration of IgE (ImmunoCAP test; Phadia Laboratory Systems) were performed in both groups. RESULT: The rosacea patients had significantly more radiological evidence of CRS than the patients without rosacea [19 (67.9%) vs. 4 (20%), p = 0.003]. The median IgE concentration was similar in both groups (225.4 vs. 223.1 kU/l). Nine rosacea patients (32.1%) without radiological evidence of CRS did not have a significantly different median concentration of IgE compared with those who had radiological evidence of CRS (190.5 vs. 111.5 kU/l, p = 0.859). Erythematotelangiectatic severity was significantly associated with CRS (p = 0.038). Serum IgE did not correlate with the severity of the facial condition. CONCLUSION: Patients with rosacea and CRS manifested severe erythematotelangiectatic rosacea. There was enough evidence to suggest an association between rosacea and CRS. Clinical and radiological assessments of the paranasal sinuses are recommended.

Quality of life in family members of vitiligo patients: a questionnaire study in Saudi Arabia.

BACKGROUND: Many dermatologic disorders are known to adversely affect quality of life (QoL) in close relatives or partners of patients; however, it is unknown whether vitiligo impacts the QoL of family members. OBJECTIVE: The aim of this study was to identify the level and domains in which the QoL of partners/relatives of patients with vitiligo are affected by the disease. METHODS: A total of 141 patients with vitiligo, along with their family members, were recruited to complete validated QoL questionnaires, including the Dermatology Life Quality Index (DLQI) and the Family Dermatology Life Quality Index (FDLQI). RESULTS: Family member QoL was affected in 129 (91.5 %) of subjects. Mean FDLQI score was 10.3 ± 6.4 standard deviation. Higher FDLQI score (greater impairment in QoL) was significantly associated with male patients, a shorter duration of disease, and higher educational levels in family members. The most affected FDLQI items in order of decreasing incidence were emotional impact, burden of care, impact on the physical well-being of the family member, problems due to the reaction of others in response to the patient's skin appearance and effect on social life. Overall FDLQI score and the number of items affected correlated with overall patient DLQI score (p < 0.001, r = 0.56 and p < 0.001, r = 0.53, respectively). CONCLUSIONS: Vitiligo has a major impact on the QoL of family members of patients and often significantly impairs many aspects of their lives. Educational and supportive programs are recommended for family members of vitiligo patients who are at an increased risk for QoL impairments.