Heerfordt syndrome with unilateral facial nerve palsy: a rare presentation of sarcoidosis.

BACKGROUND: Heerfordt syndrome is rare and is characterized by fever, uveitis, parotid gland enlargement, and facial nerve palsy. We hereby present a case of Heerfordt syndrome with unilateral facial nerve palsy as a presentation of sarcoidosis. HISTORY AND SIGNS: A 29-year-old male patient from Sri Lanka presented with eye redness OU, blurred vision OD, fever, headache, night sweat, fatigue, and weight loss (5 kg over 1 month). Examination revealed mild anterior uveitis OU, mild vitritis OD, fundus whitish lesions OU, left otalgia, taste disorders, bilateral parotid gland enlargement, and left facial nerve palsy. Work-up for infection or tumour was negative. Chest computed tomography and transbronchial lymph node biopsy set the diagnosis of sarcoidosis. THERAPY AND OUTCOME: The patient recovered completely within 2 months under therapy with prednisone and azathioprine. One year after onset of treatment, no recurrence was noted. CONCLUSIONS: Heerfordt syndrome is a rare manifestation of neurosarcoidosis and has to be included in the differential diagnosis of facial nerve palsy.

Immunological basis of systemic sclerosis.

Systemic sclerosis (SSc) is a disease of unknown aetiology characterized by excessive and often progressive fibrosis in skin and multiple internal organs, an aberrant immune activation marked by multiple humoral and cellular immunological abnormalities and pronounced alterations in the microvasculature. The pathogenesis of SSc is complex and, although progress in the understanding of the multiple processes underlying SSc has been made in recent years, no single unifying hypothesis explaining all aspects of this disease exists. Recent studies have suggested that the activation of the immune system is a key stimulus to vascular abnormalities and fibrosis. Once T-cells are activated, they infiltrate the skin lesions early, and produce the profibrotic cytokine IL-4. They are also required for autoantibody production. B-cells may contribute to fibrosis, as deficiency of CD19, a B-cell signal transduction molecule, results in decreased fibrosis in animal models. In recent years, clinical advances have occurred in parallel with a better understanding of the underlying disease mechanisms. In this article, the immunological aspects and multiple altered immunological processes found in SSc are discussed.

[Pathogenic mechanisms in systemic sclerosis and their therapeutical consequences. Part 1: pathogenesis]. / Mécanismes pathogéniques de la sclérodermie et leurs conséquences thérapeutiques. 1ère partie: pathogénie.

Systemic sclerosis I(cleroderma) is a connective tissue disease caracterized by an aberrant immune activation, a vasculopathy and a fibrosis of skin and multiple internal organs (lung, kidneys, gut, among others). At present no unifying pathogenetic hypothesis exists to explain all aspects of this disease. The current hypothesis is that in patients with a favourable genetic background, certain environmental factors could produce alterations of cellular and humoral immunity and alterations of the microcirculation resulting in excessive fibrosis. A crucial component in systemic sclerosis pathogenesis is the persistent and unregulated activation of genes encoding the various extracellular matrix proteins. This is in correlation with different cytokines and growth factors produced mainly by T lymphocytes.

[Pathogenic mechanisms in systemic sclerosis and their therapeutical consequences. Part 2: treatment]. / Mécanismes pathogéniques de la sclérodermie et leurs conséquences thérapeutiques. 2e partie: traitement.

Systemic sclerosis (scleroderma) is considered as the most severe connective tissue disease. It is characterized by an abnormal immune activation, a vasculopathy and a fibrosis of the skin and of multiple internal organs. Numerous progress in the understanding of the pathogenesis with identification of key molecules have permit to introduce novel treatments that improve the management of some aspects of the disease. ACE inhibitors are effective in resolving renal crisis. Cyclophosphamide is useful for treatment of fibrosing alveolitis. Prostaglandins, endothelin receptor antagonists and phosphodiesterase type 5 inhibitors permit to improve the treatment of the vascular complications (digital ulcerations, pulmonary arterial hypertension) of scleroderma.

[Sarcoidosis: new therapeutic and pathogenic aspects for an "old" disease]. / Sarcoïdose: nouveaux concepts pathogéniques et théra- peutiques pour une (vieille) maladie.

Sarcoidosis is a multisystemic disorder of unknown etiology characterized by non-caseating epithelioid granuloma. Clinical features are protean and the lack of a specific diagnostic test can make diagnosis difficult. The cause of this disease is still unknown but the diverse manifestations of this disorder help fuel the prevailing hypothesis that sarcoidosis has more than one cause each of which may promote a different pattern of illness. Recent progress, especially in immunology and molecular biology, has advanced our understanding of the pathogenesis of the disease and improved our ability to diagnose and treat this complex condition. This article gives an overview about current concepts in sarcoidosis and focus on immunopathogenic and therapeutic aspects.

[Periarteritis nodosa and hepatitis C: a fortuitous association?]. / Périartérite noueuse et hépatite C: association fortuite?

Polyarteritis nodosa is a vasculitis of unknown origin which can be rarely associated with hepatitis B. A exceptional clinical situation of a polyarteritis nodosa associated with hepatitis C is described. This case is also the occasion to review the clinical manifestations, the diagnostic strategy und the therapeutic options of this rare vasculitis.

Rapid detection and identification of Candida albicans and Torulopsis (Candida) glabrata in clinical specimens by species-specific nested PCR amplification of a cytochrome P-450 lanosterol-alpha-demethylase (L1A1) gene fragment.

PCR of a Candida albicans cytochrome P-450 lanosterol-alpha-demethylase (P450-L1A1) gene segment is a rapid and sensitive method of detection in clinical specimens. This enzyme is a target for azole antifungal action. In order to directly detect and identify the clinically most important species of Candida, we cloned and sequenced 1.3-kbp fragments of the cytochrome P450-L1A1 genes from Torulopsis (Candida) glabrata and from Candida krusei. These segments were compared with the published sequences from C. albicans and Candida tropicalis. Amplimers for gene sequences highly conserved throughout the fungal kingdom were first used; positive PCR results were obtained for C. albicans, T. glabrata, C. krusei, Candida parapsilosis, C. tropicalis, Cryptococcus neoformans, and Trichosporon beigelii DNA extracts. Primers were then selected for a highly variable region of the gene, allowing the species-specific detection from purified DNA of C. albicans, T. glabrata, C. krusei, and C. tropicalis. The assay sensitivity as tested for C. albicans in seeded clinical specimens such as blood, peritoneal fluid, or urine was 10 to 20 cells per 0.1 ml. Compared with results obtained by culture, the sensitivity, specificity, and efficiency of the species-specific nested PCR tested with 80 clinical specimens were 71, 95, and 83% for C. albicans and 100, 97, and 98% for T. glabrata, respectively.