Relapsing polychondritis is an immune-mediated systemic disease characterized by recurrent episodes of inflammation of cartilaginous and proteoglycan-rich tissues, resulting in progressive anatomical deformation and functional impairment of the involved structures. Auricular and nasal chondritis and/or polyarthritis represent the most common clinical features, but potentially all types of cartilage may be involved. Because of the pleomorphic nature of the disease, with non-specific symptoms at the onset, the diagnosis of relapsing polychondritis is often delayed. In this review article we provide a comprehensive look into clinical presentation, laboratory and instrumental investigations, diagnostic criteria, and therapeutic options.
1 January 2019 in Pathology - Research and Practice
Nitric oxide (NO) is involved in several biological processes, but its role in human melanogenesis is still not well understood. Exposure to UVA and UVB induces nitric oxide production in keratinocytes and melanocytes through the activation of constitutive nitric oxide synthase, increasing tyrosinase activity and melanin synthesis, whereas inducible nitric oxide synthase over expression might be involved in hypopigmentary disorders. The aim of this study was to evaluate whether inducible nitric oxide synthase and neuronal nitric oxide synthase expression were modified in vitiligo skin compared to healthy controls. Skin biopsies were obtained from inflammatory/lesional and white/lesional skin in 12 patients with active, non-segmental vitiligo; site-matched biopsies of normal skin from eight patients were used as controls. Nitric oxide synthase isoforms expression was evaluated by confocal laser scanning microscopy and Western Blot analysis. Inducible nitric oxide synthase expression was significantly increased in inflammatory/lesional skin compared to healthy skin; melanocytes showed a moderate neuronal nitric oxide synthase expression in white/lesional skin, demonstrating that metabolic function still goes on. The obtained data demonstrated that vitiligo lesions were characterized by modifications of nitric oxide synthase isoforms, thus confirming the hypothesis that nitric oxide imbalance is involved in vitiligo and supporting the idea that nitric oxide synthase inhibitors might be used as a possible therapeutic approach for the management of vitiligo.
Background: Glutathione S-transferases (GST) are antioxidant enzymes with frequent genetic polymorphisms. Homozygosis for gene deletion (“null” genotype) of GSTM1 and GSTT1, causing decrease of the antioxidant potential of the organism, is frequent, with variable frequency in different ethnic contexts. Although oxidative stress notoriously plays a role in the pathogenesis of psoriasis, few studies exist on the association between GSTM1/GSTT1 genotype and psoriasis, with different results. Objectives: To assess the frequency of GSTM1/GSTT1 polymorphisms in Southern Italian psoriatic patients and controls and investigate the association of the GSTM1/GSTT1 genotype with individual and disease parameters. Methods: The GSTM1/GSTT1 genotype of 148 psoriatic patients and 148 age- and sex-matched controls was defined by PCR on oral mucosa cells. Results: GSTT1 null was associated with psoriasis (55.4% of patients vs. 25% of controls, p = 9.58 × 10−8, odds ratio 3.73), while GSTM1 null was not. The GSTM1/GSTT1 “double null” genotype conferred an even higher odds ratio for psoriasis (5.94). The association between psoriasis and GSTT1 null was stronger in women (54.1% of patients vs. 19.7% of controls, p = 8.13 × 10−5) than in men (56.3% of patients vs. 28.7% of controls, p = 0.0002). No association was found between GSTM1/GSTT1 genotype and psoriasis severity, age of onset or comorbidities (psoriatic arthritis, metabolic syndrome). Conclusions: The remarkable differences among the few available data on the association between GSTM1/GSTT1 polymorphisms and psoriasis suggest the need for further studies, on different and larger populations, to improve knowledge on the pathogenesis of psoriasis and possibly provide more precise and personalized prevention and treatment in the future.