Atypical familial Papillon-Lefevre syndrome

The Papillon-Lefevre syndrome is a rare autosomal recessive disorder. Consanguinity seems a notable prerequisite. Papillon-Lefevre syndrome manifests in the first 6 months of life with rapidly progressive periodontitis and severe alveolar bone destruction leading to early loss of both the deciduous and permanent teeth in association with palmo-plantar hyperkeratosis. We present two unusual cases of familial Papillon-Lefevre syndrome, one of whom has only late onset of mild skin lesions and the other has severe skin lesions and relatively mild periodontal disease. A number of other cases recently described have also had atypical features

The significance of immunohistochemistry in the skin pathergy reaction of patients with Behcet's syndrome

Background Behcet's syndrome is a chronic systemic immuno-inflammatory disorder affecting multiple organs with generalized vasculitis of arteries and veins. Although the actiology is still unknown, endothelial dysfunction is one of the most prominent features in Behcet's syndrome. The skin pathergy reaction (SPR) is a non-specific hyperreactive lesion formation that is one of the major features and diagnostic criteria of the disease. It develops after 24-48 h at the site of the needle-prick, especially in the exacerbation period, and it is very similar to the erythematous papules or pustules that appear spontaneously in patients with Behcet's syndrome. Therefore, an investigation into the formation of the SPR lesion may contribute to the pathophysiology of skin lesions of this unique disorder

Increased nitric oxide production in patients with Behcet's disease: Is it a new activity marker?

Background. The origin of Behcet's disease (BD) is unclear. One of the prominent features of BD is vasculitis and thrombosis as a result of endothelial dysfunction. Because nitric oxide (NO) is synthesized by endothelium, we considered it as an interesting target of investigation in BD

Increased plasma adrenomedullin levels in patients with Behcet's disease

Background: Behcet's disease (BD) is a chronic systemic inflammatory disorder affecting multiple organs with a generalized vasculitis of arteries and veins. Endothelial dysfunction is one of the prominent features of ED. Adrenomedullin (AM) is a peptide produced not only in normal adrenal medulla but also in the vascular smooth muscle cells and endothelial cells, and its role in the course of ED has not been previously described. Objective: To detect changes of plasma AM concentrations in patients with ED compared with age- and sex-matched healthy subjects by using high-performance liquid chromatography (HPCL). We also investigated if disease activity or the duration of ED correlates with ANT levels. Methods: Forty-two consecutive patients with ED (38.5 +/- 11.1 years, 19 male and 23 female) and 20 healthy age- and sex-matched control subjects (39.5 +/- 10.9 years, 8 male and 12 female) were included in this study. We measured plasma AM levels by HPCL, and acute-phase reactants including alpha (1)-antitrypsin and alpha (2)-macroglobulin, neutrophil count and the erythrocyte sedimentation rate. Results: Mean +/- SD plasma AM levels in patients with ED (73.22 +/- 25.55 pmol/l) were significantly higher (p 12.37 pmol/l). Patients with active ED had similar plasma AM concentrations (79.32 +/- 21.89 pmol/l) with patients with inactive disease (67.44 +/- 29.92 pmol/l). On the other hand, patients with longer duration of the disease (mean duration, 13.9 +/- 3.8 years) had significantly higher plasma AM levels (83.99 +/- 19.71 pmol/l; p = 0.005) than patients (62.45 +/- 26.57 pmol/l) with shorter duration of the disease (mean duration, 5.5 +/- 2.3 years). All acute-phase reaction parameters were found to be significantly increased in the active disease. Conclusion: Considering its endothelial cell implications, AM may be involved in reparatory vessel endothelium mechanisms, especially in the chronic disease. Copyright (C) 2000 S. Karger G, Basel

Vascular endothelial growth factor levels are increased and associated with disease activity in patients with Behcet's syndrome

Background/aims Vascular endothelial growth factor (VEGF) is a cytokine participating in inflammation with potent endothelial cell effects. It is produced by macrophages, neutrophils and vascular endothelial cells and can alter vessel permeability. Behcet's syndrome is a systemic inflammatory disorder with unknown etiology. Vascular endothelial dysfunction is one of the prominent features of the disease. We previously demonstrated the possible involvement of proinflammatory cytokines [tumor necrosis factor (TNF)-alpha, soluble interleukin-2 receptor (sIL-2R), interleukin (IL)-6 and IL-8], nitric oxide (NO) and adrenomedullin in the etiopathogenesis of Behcet's syndrome. Since VEGF expression is induced by these cytokines and VEGF itself is a potent stimulator of NO production with endothelial cell effects, this study aimed to investigate whether VEGF was affected during the course of Behcet's syndrome. We also assessed the possible involvement of VEGF in ocular Behcet's syndrome or in disease activity