Autor: |
de Oliveira ASLE; Laboratory of Immunopathology Keizo Asami-LIKA, Federal University of Pernambuco, Recife 50670-901, Brazil., Bloise G; Department of Pathology, Federal University of Pernambuco, Recife 50670-901, Brazil.; Hospital Israelita Albert Einstein, São Paulo 05652-000, Brazil., Moltrasio C; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Medical Surgical and Health Sciences, University of Trieste, 34137 Trieste, Italy., Coelho A; Hospital Israelita Albert Einstein, São Paulo 05652-000, Brazil., Agrelli A; Laboratory of Nanostructured Materials (LMNANO), Center for Strategic Technologies Northeastern (CETENE), Av. Prof. Luís Freire, 1-Cidade Universitária, Recife 50740-545, Brazil., Moura R; Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Tricarico PM; Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Jamain S; Translational Neuropsychiatry, Univ. Paris Est Créteil, Inserm, IMRB, 94010 Créteil, France., Marzano AV; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy., Crovella S; Biological Science Program, Department of Biological and Environmental Sciences, College of Arts and Sciences, University of Qatar, Doha 2713, Qatar., Cavalcanti Brandão LA; Department of Pathology, Federal University of Pernambuco, Recife 50670-901, Brazil. |
Abstrakt: |
Hidradenitis suppurativa (HS) is an inflammatory skin condition clinically characterized by recurrent painful deep-seated nodules, abscesses, and sinus tracks in areas bearing apocrine glands, such as axillae, breasts, groins, and buttocks. Despite many recent advances, the pathophysiological landscape of HS still demands further clarification. To elucidate HS pathogenesis, we performed a meta-analysis, set analysis, and a variant calling on selected RNA-Sequencing (RNA-Seq) studies on HS skin. Our findings corroborate the HS triad composed of upregulated inflammation, altered epithelial differentiation, and dysregulated metabolism signaling. Upregulation of specific genes, such as KRT6 , KRT16 , serpin-family genes, and SPRR3 confirms the early involvement of hair follicles and the impairment of barrier function in HS lesioned skin. In addition, our results suggest that adipokines could be regarded as biomarkers of HS and metabolic-related disorders. Finally, the RNA-Seq variant calling identified several mutations in HS patients, suggesting potential new HS-related genes associated with the sporadic form of this disease. Overall, this study provides insights into the molecular pathways involved in HS and identifies potential HS-related biomarkers. |