Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that is clinically defined by lesions ranging from painful, deep seated nodules to abscesses, draining sinus tracts, and ultimately, irreversible fibrotic scars. While the etiology remains unclear, a number of mechanisms ranging from genetics to aberrations of the immune system have been proposed. In addition, HS has a number of associations and may occur in conjunction with several diseases that span a host of medical specialties. The estimated prevalence ranges are from 1% to 4%; however, a large degree of under-reporting and misdiagnosis of this condition likely underestimates its true clinical significance. The debilitating consequences of missed diagnoses or improper management leads to severe pain and irreversible cutaneous manifestations (i.e., fistulae, sinus tracts, disfiguring scarring). HS has been found to significantly impair patients' quality of life to a greater degree when compared with other skin conditions. Early recognition and treatment are critical for a favorable prognosis, and diagnostic delays may be related to variable presentations within numerous comorbidities. Here we provide an in-depth, clinical-based review of HS, highlighting the clinical presentation, pathophysiology, grading systems, epidemiology, and comorbidities, in hopes of shedding light on an often misunderstood disease and ultimately moving closer to a more conclusive understanding of its various presentations and association.
Hidradenitis suppurativa (HS) is a chronic, inflammatory skin condition that poses a significant diagnostic and therapeutic challenge for clinicians, as the underlying etiology and pathogenesis remains unclear. The host of genetic mutations and immune dysfunction has been identified to be involved in the pathogenesis of HS during recent years. These genetic defects, including monogenetic mutations altering subunits of g-secretase, a protease that functions through Notch signaling to maintain skin appendages, promote epithelial stability, suppress/terminate innate immune responses (ie, Toll-receptors), further have the propensity to induce aberrant cytokine responses that create to a proinflammatory environment, consequently induce hyperkeratosis and promote expression of pro-inflammatory, locally destructive matrix metalloproteinases. Cytokine-driven inflammation propagates the disease state of HS and contributes to the formation of painful subcutaneous nodules, abscesses, and eventually, fistulas and draining sinus tracts. A closer look at genetic mutations linked to the disease may explain the immune perturbations seen in HS. An understanding of the immune cells and inflammatory markers expressed in affected individuals provides insight into disease pathogenesis and can help identify therapeutic targets.
Psoriasis is a common chronic inflammatory disease that affects 2% of the population. Therapeutic intervention for psoriasis mainly targets inflammatory cascade through the use of topical agents, phototherapy, systemic agents and the newer biologic agents. The efficacy of many treatments used in psoriasis varies from patient to patient, and some of this variance in response can presumably be attributed to genetic differences. While current research findings are still limited, the clinical utilization of pharmacogenetics allows for tailored treatment plans that have the potential for better response amongst patients as well as conserving expenditures and healthcare resources. In this review, we hope to focus and summarize the conclusions and findings of studies done on the topic of pharmacogenetics in the treatment of psoriasis.
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