Impact of Dermatophytosis on the Quality of Life in Patients Attending a Tertiary Care Hospital, Karachi

Abstract Objectives: To determine the impact of dermatophytosis on quality of life (QoL) of patients at tertiary care hospital, Karachi. Methods: The cross-sectional descriptive research was piloted in the Departments of Dermatology and Microbiology, Jinnah Postgraduate Medical Centre (JPMC) Karachi, a leading public tertiary care hospital during the July 2019 to December 2019. The patients <16 years aged were excluded from this study. The KOH (10%) wet mount was performed for fungal hyphae and spore observation in specimens. Quality of life was determined by dermatology life quality index (DLQI) scores and their association with different variables was evaluated by using t-test and Fisher test. Results: A total of 300 dermatophytosis patients were analyzed. The majority of the patients were of no education category. The active age group (16-30 years) showing higher frequency (138; 46.0%) and followed by age group of 31-50 years (126; 42.0%)).  In present study DLQI score mean was 13.4 ± 7.3. Unexposed area was the main site 249 (83.0%). Dermatophytosis has effect on the quality of life (QoL) in majority (98.7%) of the patients. The DLQI score was significantly higher in unexposed and both sites involvement (P < 0.001). DLQI score was not affected by the age, sex, literacy, addiction and other demographic variables. Conclusion: This study revealed that dermatophytosis has a significant impact on the quality of life (QoL) in these patients. &nbsp

Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study

Abstract Background Psoriasis is a chronic, autoimmune, papulosquamous skin disorder, characterized by the formation of drop-like papules and silvery-white plaques surrounded by reddened or inflamed skin, existing predominantly on the scalp, knees and elbows. The characteristic inflammation and hyperproliferation of keratinocytes in psoriasis is regulated by progranulin (PGRN), which suppresses the expression and release of inflammatory cytokines, such as TNF-α. Methodology In this study mutation analysis of the PGRN gene was performed by extracting the genomic DNA from blood samples of 171 diagnosed psoriasis patients and controls through standard salting-out method, followed by amplification and sequencing of the targeted region of exon 5–7 of PGRN gene. Results Three single nucleotide polymorphisms, rs25646, rs850713 and a novel point mutation 805A/G were identified in the PGRN gene with significant association with the disease. The variant alleles of the polymorphisms were significantly distributed among cases and controls, and statistical analysis suggested that the mutant genotypes conferred a higher risk of psoriasis development and progression. Multi-SNP haplotype analysis indicated that the CAA (OR = 8.085, 95% CI = 5.16–12.66) and the CAG (OR = 3.204, 95% CI = 1.97–5.21) haplotypes were significantly associated with psoriasis pathogenesis. Conclusions These findings demonstrate that polymorphisms in PGRN might act as potential molecular targets for early diagnosis of psoriasis in susceptible individuals

Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis

Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 250 cases of this disorder have been described in the literature, but occurrence of lipoid proteinosis in siblings is very rare. This study was designed to investigate the possible mutation causing lipoid proteinosis in a Pakistani family and to elaborate the scope of possible genetic changes, causing the genodermatosis in Pakistan. Main observations: In this study, two siblings (12 and 9-years sisters) were presented with scaly itchy lesions on whole body, hoarse voice and macroglossia. Their deceased father had similar clinical manifestations but mother and younger brother were unaffected. Blood samples from clinically affected and unaffected family members were collected with informed consent. The coding region of ECM1 gene containing 10 exons were amplified and sequenced. Both the affected siblings were shown to have homozygous frame shift mutation by deletion of the nucleotide T at 507, codon 169, exon 6. This resulted in a frame shift from codon 169 and appearance of a premature stop codon at 177, causing formation of a mutated protein (176 amino acids) instead of normal ECM1 protein (540 amino acids). Conclusion: A case of homozygous 62-bp insertion in ECM1 gene causing lipoid proteinosis has been reported in another Pakistani family. The current study presents a homozygous frame shift mutation supporting an unusual function of ECM1 protein and broadens the spectrum of disease-linked mutations in this rare case of genodermatosis in this regio