Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia.

The etiology of preeclampsia is still a matter of controversy. An association between hyperhomocysteinemia and preeclamptic patients has been described. A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with increased plasma homocysteine concentrations. In addition, the polymorphism of gene encoding for Factor V Leiden G1691A is associated with a prothrombotic state in heterozygous subjects. Both mutations in these thrombophilic proteins appear to have different prevalence in the general population and in patients with preeclampsia/eclampsia (PE/E). We studied single nucleotide polymorphisms for MTHFR C677T and coagulation Factor V Leiden in 33 Mexican patients with PE/E as a genetic risk factor for these diseases, comparing with a normotensive pregnant control group. The genotype and allele frequencies of MTHFR C677T and Factor V Leiden mutations between Mexican women with PE/E and healthy controls were not different. We conclude that these polymorphisms do not contribute in the etiology of PE/E as it has been reported in other populations.

Acquired ichthyosis associated with systemic lupus erythematosus.

Acquired ichthyosis is an uncommon disease, it is characterized by symmetric scaling of the skin, which ranges from minor roughness and dryness to the desquamation of large plaques. It has been associated with various systemic diseases, although malignant conditions, especially Hodgkin's lymphoma are the most commonly cited. Drugs, HIV infection and autoimmune diseases such as dermatomyositis and mixed connective tissue disease have also been associated, and it has only rarely been found among patients with systemic lupus erythematosus (SLE). Herein, we report a patient with active SLE who developed a generalized acquired ichthyosis corroborated with skin biopsy, which completely disappeared after treatment. The association of autoimmune conditions with acquired ichthyosis could indicate that an abnormal host immune response, probably against components of the granular cell layer in particular the keratohyalin granules, may have a role in the pathogenesis. Thus, this finding may be a relevant cutaneous marker for an autoimmune origin.

Leflunomide in the treatment of psoriasis: results of a phase II open trial.

BACKGROUND: Psoriasis is recognized as the most prevalent T-cell-mediated inflammatory disease in humans, with predominantly activated T-helper (Th) 1 cell effectors. Leflunomide exerts its anti-inflammatory activities by preventing the generation of proinflammatory Th1 effectors and promoting Th2 cell differentiation. OBJECTIVES: To determine the safety and efficacy of leflunomide in patients with moderate to severe plaque-type psoriasis. METHODS: In an open-label phase II trial, eight patients with psoriasis received oral leflunomide 20 mg daily for 12 weeks. Patients were evaluated for improvement in psoriasis, quality of life, histological changes and toxicity. RESULTS: Antipsoriatic effects were obtained in all but two patients. A significant decrease was observed in the mean +/- SD Psoriasis Area and Severity Index score, from 20.08 +/- 6.85 before treatment to 12.51 +/- 11.83 after (P = 0.03). The antipsoriatic efficiency was confirmed histologically, with a significant mean +/- SD decrease in epidermal thickness, from 0.73 +/- 0.19 micro m before to 0.31 +/- 0.16 microm after (P = 0.01). The quality of life score showed an improvement, from 8.58 +/- 2.38 (mean +/- SD) before to 5.33 +/- 1.95 after (P = 0.02). The treatment was well tolerated; adverse reactions primarily consisted of transitory gastrointestinal events. CONCLUSIONS: Our data suggest that leflunomide for plaque-type psoriasis is a safe and clinically effective option as monotherapy. However, double-blind, placebo-controlled studies are needed.

Factitious disorders mimicking systemic lupus erythematosus.

Factitious disorders are one of the most difficult challenges to the sagacity of the physician. Self-inflicted injuries and diseases have been recognized since Biblical times. In the Middle Ages, hysterics were known to place leeches in their mouths to simulate hemoptysis and to abrade their skin to reproduce skin conditions. Münchausen syndrome, originally described in 1951, is the term applied to persons who seek medical care by feigning illness in the absence of any organic medical or surgical disease. Since the first report of the syndrome, many case reports have documented the performance of unneeded operations and the administration of dangerous drugs to these patients. Rheumatologic manifestations in this syndrome are rare, and include septic arthritis, osteomyelitis, destructive arthropathy, reflex sympathetic dystrophy and systemic lupus erythematosus (SLE). We reviewed the English literature for the past 29 years and found only 8 patients with Münchausen syndrome who simulated SLE. It is interesting to consider the damage mechanisms (some of the patients satisfied 4 or more of the criteria for the classification of SLE) and how a complex disease with a broad spectrum of manifestations such as lupus can be simulated, the only limits being the patient's knowledge and imagination.

[Munchausen's syndrome: a diagnostic challenge]. / Síndrome de Munchausen: reto al diagnóstico.

The Munchausen's syndrome is a variant of chronic factitious illness with predominantly physical signs and symptoms under the conscious control of the patient without any obvious gain. The disorder has also been called hospital addiction, professional patient syndrome and in the field of dermatology, dermatitis artefacta. Munchausen's syndrome may mimic many different conditions, especially acute abdominal pain, hemorrhagic disorders, rheumatologic manifestations, factitious fever, and injury of skin. We describe a 28-year-old woman, who was admitted at a local teaching hospital and studied during three years with complaints of a bleeding ulcer on the left knee, severe enough to require blood transfusions. Many procedures and tests were performed without pathologic findings. Afterward, she was seen at our institution; during the study, the suspicion had arisen that the patient had manipulated her ulcer, after the diagnosis of factitious disease was communicated, she admitted. Munchausen's syndrome may have a broad spectrum of manifestations; early recognition can avoid unnecessary treatments and invasive diagnostic studies, with their inherent risk of complications.