Alkaptonuria: a case report.

Alkaptonuria is a rare, autosomally recessive, metabolic disorder caused by a deficiency in homogentisic acid oxidase. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, cheeks, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons. We report a 33-year-old woman who presented with alkaptonuria and ochronotic pigment deposited in articular cartilage and cartilage of the ear and sclera.

A case of folliculitis decalvans involving the beard, face and nape.

Folliculitis decalvans is a rare and chronic progressive hair disorder leading to scarring alopecia and atrophy. Its etiology is still unclear. It starts with areas of perifollicular erythema, and follicular papules and pustules spread peripherally, leaving central scarred patches of alopecia. We report a 27-year-old man who presented with folliculitis decalvans involving the scalp, face, nape, and beard. There were pustules, crusts, and scarring alopecia on the scalp and beard.

Serum E-selectin and beta 2-microglobulin levels in Behçet's disease.

Behçet's disease is a systemic vasculitis of unknown aetiology. Endothelial cell injury plays an important role in the pathogenesis and immunopathology of systemic vasculitises, but an immunopathogenic basis is also probable in Behçet's disease. E-selectin is an indicator of endothelial injury, and beta 2-microglobulin (beta 2M) is increased in immunological disorders. The serum concentrations of these two markers were determined in 40 patients with active Behçet's disease and 40 healthy controls. E-selectin was determined by enzyme-linked immunosorbent assay and beta 2M was determined by the nephelometric method. The mean (+/- SD) serum concentration of E-selectin was 122.13 +/- 62.32 ng/ml and that of beta 2M was 0.31 +/- 0.05 mg/dl. Both concentrations were statistically significantly increased in patients with Behçet's disease compared with controls. More comprehensive studies are needed to determine whether these parameters are useful indicators of the activity of Behçet's disease.

Serum interleukin-2, interleukin-6, tumour necrosis factor-alpha and nitric oxide levels in patients with Behcet's disease.

INTRODUCTION: Behcet's disease (BD) is a chronic systemic disorder characterised by oral and genital ulcerative lesions, ocular and cutaneous manifestations. Cytokines are the major mediators of immunologic and inflammatory reactions. Nitric oxide is reactive nitrogen intermediate which plays a key role in pathogenesis of many inflammatory and autoimmune skin diseases. The study was conducted to determine serum interleukin-2 (IL-2), interleukin-6 (IL-6), tumour necrosis factor (TNF)-alpha and nitric oxide levels in relation to the pathogenesis of Behcet's disease. MATERIALS AND METHODS: Serum IL-2, IL-6, and TNF-alpha levels were measured with test kits by enzyme-linked immunosorbent assay (ELISA) method, while serum nitric oxide levels were determined with a test kit by colorimetric method. Serum IL-2, IL-6, TNF-alpha and nitric oxide concentrations in 27 patients with Behcet's disease and in 16 healthy controls were determined by extrapolation from their standard curves. The significance of the mean differences between the 2 groups was assessed by the Mann-Whitney U test. RESULTS: The serum levels of IL-2, IL-6, TNF-alpha, and nitric oxide concentrations in patients with BD were significantly higher than those of the controls (P <0.001). CONCLUSION: Our results suggest that elevated levels of IL-2, IL-6, TNF-alpha, and nitric oxide in Behcet's disease appear to be related to the disease.

Increased serum ferritin levels in active Behçet's disease.

There is no routine test to evaluate the activity of Behçet's disease (BD). Ferritin as a serum predictor of iron storage is an important acute phase reactant. In this study, we assessed serum ferritin levels in patients with active BD and compared them with those of patients with inactive BD. We aimed to show the relationship between ferritin and BD. The patients with BD were subdivided into two groups according to disease activity: active (24 patients; 18 men and 6 women, average age 36.5 +/- 4.9 [28-45] years), and inactive (20 patients; 16 men and 4 women, average age 37.2 +/- 5.2 [30-49] years). Twenty healthy volunteers (15 men and 5 women; average age 38.2 +/- 4.6 [30-47] years) served as controls. Patients with active BD had significantly higher serum ferritin levels (p=0.0001) than the inactive and control groups. Ferritin levels in patients with inactive BD did not differ significantly from healthy control subjects (p=0.687). We concluded that in patients with active BD, serum ferritin levels are increased and do not reflect serum iron levels.