[The role in harlequin ichthyosis of mutations in lipid transporter ABCA12].
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Biomedical subjects
Publications and source records attributed to O Dereure.
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INTRODUCTION: Primary cutaneous "aggressive" CD8-positive epidermotropic cytotoxic T-cell lymphoma is a rare subset of cutaneous cytotoxic T/NK lymphomas that clearly differs from mycosis fungoides, whether CD4+ or CD8+, by the presence of rapidly evolving tumoral cutaneous lesions, foci of keratinocytes necrosis, a cytotoxic T phenotype and a poor prognosis. CASE REPORT: A 33-year-old man with Steinert's myotonic dystrophy was referred for evaluation of rapidly worsening cutaneous tumors along with marked deterioration of general status. Clinical, histological and immunohistological data led to the diagnosis of primary cutaneous CD8+ epidermotropic cytotoxic T-cell lymphoma. CHOP chemotherapy was effective despite cardiac toxicity in the setting of Steinert's dystrophy, but the patient relapsed and died of pulmonary sepsis after chemotherapy was resumed. DISCUSSION: The treatment of primary cutaneous epidermotropic CD8+ cytotoxic T-cell lymphoma is not codified. CHOP chemotherapy is usually the first-line therapy but relapses are frequent with median survival of no more than 34 months. In our patient, an additional difficulty was the cardiac toxicity of cytostatic drugs linked to the myopathy which prevented the use of high dosages, requiring a change of therapeutic regimen.
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BACKGROUND: T-lymphocyte dysfunction has been seldom investigated in collagen vascular disorders. The search for dominant T-cell clones has been scarcely reported, although the presence of such clones might be expected in disorders showing immune responses directed against a variety of autoantigens. OBJECTIVES: We conducted a systematic search for dominant T-cell clones in peripheral blood in patients with collagen vascular disorders. Patients and methods Ninety-seven patients with collagen vascular disorders were studied (7 cutaneous and 38 systemic lupus erythematosus; 8 multiple morphea; 12 regional scleroderma; 32 systemic sclerosis of the CREST type). A dominant T-cell clone was searched for in peripheral blood by polymerase chain reaction targeting the T-cell receptor gamma chain followed by a size analysis of amplified fragments. Peripheral blood from patients with nonlymphocyte-dependent disorders and matched by age and sex was assessed in the same conditions. Results in both groups were compared using nonparametric statistical tests. RESULTS: Overall, a circulating dominant T-cell clone was found in 52% of patients compared with 16.9% in controls. More precisely, such a dominant clone was present in 43% and 37% of cutaneous and systemic lupus erythematosus, respectively, in 75% of multiple morphea, 75% of regional scleroderma and 60% of CREST syndrome patients. The percentages in all subsets of patients were significantly higher than in the control group. CONCLUSIONS: The presence of a dominant T-cell clone in peripheral blood is significantly more frequent in collagen vascular disorders than in controls, especially in patients with scleroderma, whatever the clinical subset, which suggests T-cell involvement in the immune response dysfunction in these diseases classically characterized by disturbances of B lymphocytes. The relevance of such a dominant clone regarding diagnosis, pathomechanisms, long-term outcome and visceral prognosis of these diseases as well as therapeutic decisions remains to be evaluated.
OBJECTIVE: To improve the definition of the various clinical patterns of patients with drug-induced cutaneous side-effects with systemic symptoms, and their possible relationships with the triggering medication, with the ultimate goal of helping in the identification of the causal drug in difficult situations when the patient is taking several drugs. METHODS: Cases of drug-induced cutaneous side-effects associated with various systemic syndromes related to anticonvulsants (carbamazepine, phenytoin and phenobarbitone), minocycline, allopurinol, abacavir and nevirapine were collected retrospectively from the French Pharmacovigilance database (FPD) over a period of 15 years (1985-2000). The clinical patterns typical of the causative drugs were described and compared with data from the literature. RESULTS: Two hundred and sixteen patients with symptoms and signs consistent with cutaneous drug reactions with systemic symptoms were reported to the FPD during this period of time. Their pattern was similar to published data for these drugs, with fever, cutaneous eruption, hepatic abnormalities and eosinophilia being the most prominent but inconstant symptoms. There are clues suggesting that some particular lesional patterns may exist for some drugs. CONCLUSIONS: Although some trends emerge from these retrospective data, they suggest that no clear, unified outline can currently be defined for these multi-organ drug-induced reactions. Instead, a constellation of various symptoms and signs were recorded, that might be sorted in different patterns according to the causal drug, a finding that might indeed improve accurate identification of the causative drug in patients receiving several principal medications at a time. A national prospective study systematically collecting standardized data is required better to define the outlines of these severe adverse drug reactions and to evaluate prognostic data.
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BACKGROUND: Erosive pustulosis of the scalp is a rare entity of unknown etiology mainly affecting elderly people. It is often triggered by local trauma and features chronic pustules of the scalp evolving toward scarring alopecia. Its treatment is not yet codified. OBSERVATIONS: Two patients (66 and 87 years old) presented with crusted and erosive pustules of the scalp following surgical removal of actinic keratosis and total skin graft. In a third patient, similar lesions appeared after hair grafting. Clinical features were consistent with the clinical pattern of erosive pustulosis of the scalp. In all three patients, oral zinc gluconate in combination with topical steroids associated resulted in significant improvement. CONCLUSION: An association of topical steroids and oral zinc gluconate might be an interesting therapeutic option in this chronic, often disabling affection.
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INTRODUCTION: Specific involvement of the mucous membranes is possible during the course of mycosis fungoides but has seldom been reported, except in postmortem series. A single mucous membrane is most often involved, mainly in the mouth. Such mucous lesions are generally ominous with regard to the general outcome of the disease. OBSERVATION: A 74 year-old woman was investigated for mycosis fungoides complicated with lesions around the mouth and of the mucosa, involving the tongue and esophagus, featuring ulcerated nodules with specific chorion infiltration and epidermotropism. This progression was rapidly followed by a fatal outcome, in spite of various systemic treatments. DISCUSSION: This case report of mycosis fungoides displaying multiple and predominant oral and mucosal involvement of mycosis fungoides is unique. The rapidly unfavorable outcome confirms the ominous prognosis of mucous lesions, whereas no patent visceral extension was detected. The mechanisms underlying the mucous membranes involvement is discussed.
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