[Disseminated nodular primary localized cutaneous amyloidosis]. / Amiloidosis cutánea primaria localizada nodular con patrón diseminado.

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions.

[Periodic familial fever]. / Fiebre periódica hereditaria.

The familial periodic fevers are Known as autoinflammatory syndromes. It is important in clinical practice to recognize these uncommon illnesses characterized by recurrent bouts of unspecific systemic symptoms associated to elevation of acute phase reactants without autoantibodies or underlying infection. The clinical suspicion supported on the molecular diagnosis represents a new perspective in relation to treatment and prognosis of these patients.

The role of endothelial progenitor cells and statins in endothelial function: a review.

Endothelial dysfunction, a well recognized marker of cardiovascular risk, is an early event in arteriosclerosis process. Diabetes mellitus, hypertension and dyslipidemia, known risk factors for coronary disease have been associated with endothelial dysfunction, which improves after the control of these factors. Statins have additional benefits on endothelial function not related to decreasing cholesterol levels, known as pleiotropic effects. Most recently it has been reported the effect of statins promoting bone marrow-derived mononuclear cells. These cells are positive for CD34 and KDR superficial markers of endothelial cellular lineage, which is consistent with the hypothesis that they constitute the endothelial progenitor cells. Circulating endothelial progenitor cells are involved in the repair process of the endothelium after endothelial-cell injury in myocardial ischemia, angina and other stressful situations. Recent studies have demonstrated an inverse relationship between the EPC count in peripheral blood and risk of developing a cardiovascular event. In addition, circulating EPC correlates with the presence of endothelial dysfunction and could play a role as a surrogate biologic marker in vascular function. The effect of statins on endothelial progenitor cells might contribute to improve endothelial function leading to a decrease in vascular risk, independently of their impact on LDL cholesterol. In this paper, we review the role of statins in EPC mobilization, its effect in endothelial function restoration and the relevance of this finding in cardiovascular risk. We also review future therapeutic implications.

[Crohn s disease: is still the reason of fever of unknown origin?]. / Enfermedad de Crohn: ¿todavía hoy causa de fiebre de origen desconocido clásica?

We present two patients with Crohn's disease who presented with fever unknown origin, and mild intestinal symptoms. In case 1, the debut was with intermittent fever and symmetrical polyarthritis of the wrists, elbows, ankles and knees; in the case 2, prolonged fever associated to unspecific colicky abdominal pain. The initial approach was fever unknown origin yielded no etiology in both of them. The barium studies of the intestinal tract of paramount importance to reach a positive diagnosis in both cases. We strongly recommend the use of barium studies as a first line diagnostic tool in the approach of fever unknown origin.

[Effect of renin-angiotensin system in Fabry disease associated proteinuria]. / Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry.

AIM: To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. MATERIAL AND METHODS: We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. RESULTS: Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. CONCLUSIONS: Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients.