ABSTRACT

Over the years, there has been a sharp increase in the number of pigmentation disorders. Pigmentation disorders can broadly be classified into hyperpigmentation and hypopigmentation disorders. Hypopigmentation disorders are categorized by loss of skin pigment melanin either due to trauma or disease. Hyperpigmentation disorders, on the other hand, involve an increase in skin pigment leading to dark patches on the skin. The meta-analysis involved analyzing the transcriptome for two hypopigmentation (Vitiligo and Hermansky-Pudlak syndrome) and two hyperpigmentation disorders (Melasma and Epidermolysis Bullosa Simplex with mottled pigmentation) each. The main aim of the analysis was to identify differentially expressed genes for each disease using Bioconductor, functional analysis using DAVID, EnrichR, and Genemania as well as creating a network for the DE’s and obtaining hub genes using Cytoscape. This study identify common pathways involved in hypopigmentation and hyperpigmentation disorders as well as identify specific mutated function in each disease.