ABSTRACT
BACKGROUND: Vitiligo has a devastating psychosocial effect. The cultural traditions of Saudi society are quite different compared with the western world. Hence, a quality of life study using a different questionnaire suitable to the cultural traditions of the society is necessary to measure qualify of life in vitiligo patients. OBJECTIVE: This study was conducted to assess the quality of life (QOL) in Saudi vitiligo patients and their family. MATERIALS AND METHODS: A prospective cross-sectional study at National Center for Vitiligo and Psoriasis, Saudi Arabia. A validated Arabic questionnaire of 41 questions was developed and utilized specifically for this study. Arabic language instrument was distributed to 260 vitiligo patients. Scores were compared in relation to demographic, clinical, and social variables in 4 dimensions of scale (relationship with colleagues, family relationship, social relationship, and self respect). RESULTS: Overall score QOL was 17.1. Mean score for males was 11.1, whereas that for females was 23.9 (P < 0.05). Females scored significantly higher in all the 4 dimensions. Patients with exposed disease lesions scored significantly higher than those with unexposed lesions 5 vs 3.4 (P < 0.05). CONCLUSION: The overall score of QOL in vitiligo is relatively high, indicating a negative impact of the disease on QOL. QOL in women is significantly more affected than in men.
ABSTRACT
We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including wide open calvarial sutures with large and late-closing anterior fontanels, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, significant hypertelorism, and a broad and prominent nose. In addition, these individuals have Y-shaped sutural cataracts diagnosed by 1-2 years of age. No chromosomal or biochemical abnormalities were identified. A genome-wide scan was performed, and two-point LOD score analysis, assuming autosomal recessive inheritance, detected linkage to chromosome 14q13-q21. The highest LOD scores were obtained for marker GATA136A04 (LOD=4.58 at theta=0.00) and for the adjacent telomeric marker D14S1048 (LOD=4.32 at theta=0.00). Multipoint linkage analysis resulted in a maximum LOD score of 5.44 between markers D14S1048 and GATA136A04. Model independent analysis by SIBPAL confirmed linkage to the same chromosomal region. Haplotype analysis indicated that all affected individuals were homozygous for the interval on chromosome 14q13-q21 with two recombinants for D14S1014 (centromeric) and one recombinant for D14S301 (telomeric). These recombinations limit the disease locus to a region of approximately 7.26 Mb. Candidate genes localized to this region were identified, and analysis of PAX9 did not identify mutations in these patients. The unique clinical phenotype and the mapping data suggest that this family represents a novel autosomal recessive syndrome.
