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Dermatomicosis/etnología , Sporothrix , Esporotricosis/etnología , Anciano , Dermatomicosis/diagnóstico , Dermatomicosis/tratamiento farmacológico , Francia , Hong Kong , Humanos , Masculino , Yoduro de Potasio/uso terapéutico , Esporotricosis/diagnóstico , Esporotricosis/tratamiento farmacológicoRESUMEN
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and spontaneous pneumothorax. The gene has been mapped to chromosome 17p11.2 and recently identified, expressing a novel protein called folliculin. We report the clinical and genetic studies of four sporadic BHD cases and four families with a total of 23 affected subjects. Haplotype analysis of these families using BHD linked markers showed they did not share the same affected alleles, excluding common ancestry. Mutation analysis of the BHD gene identified two germline mutations on exon 11 (c.1733insC and c.1733delC) in three of four families as well as two of four sporadic cases. A novel somatic mutation, c.1732delTCinsAC, was detected in a BHD related chromophobe renal carcinoma. Our results confirmed the (C)8 tract in exon 11 as a mutational hot spot in BHD and should always be considered for future genetic testing. Our observation also indicated that the second hit (of Knudson's two hit theory) in some BHD related tumours is in the form of somatic mutation rather than LOH. In a large French family in which eight affected subjects carry the c.1733delC mutation, a phenocopy who has multiple episodes of spontaneous pneumothorax was identified. A total of five mutation carriers (aged between 37 to 66) did not have any evidence of BHD features, suggesting either reduced penetrance or late age of onset of the disease. In addition, six out of eight affected subjects who have positive germline mutation have confirmed neoplastic colonic polyps, indicating that colorectal neoplasia is an associated feature of BHD in some families. Our studies have observed several interesting genetic features in BHD: (1) the poly (C) tract in exon 11 as a mutational hot spot; (2) the existence of phenocopy; (3) reduced penetrance or late age of onset of disease; (4) association with colorectal neoplasia in some families; and (5) somatic mutation instead of LOH as the second hit in BHD tumours.
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Estrona/genética , Genes Dominantes/genética , Neoplasias/genética , Adulto , Edad de Inicio , Anciano , Alelos , Secuencia de Bases , Análisis Mutacional de ADN , Exones/genética , Femenino , Mutación de Línea Germinal/genética , Haplotipos/genética , Heterocigoto , Humanos , Pérdida de Heterocigocidad/genética , Masculino , Persona de Mediana Edad , Neoplasias/patología , Neoplasias/fisiopatología , Linaje , Penetrancia , Neumotórax/genética , Neumotórax/fisiopatología , SíndromeRESUMEN
INTRODUCTION: The aim of this study was to compare oxiconazole, 1 p. 100 cream, with ketoconazole, 2 p. 100 cream, applied once-daily, in the treatment of tinea cruris. PATIENTS AND METHODS: A prospective, randomized, double-blind trial was performed in 8 dermatology departments on two parallel groups in patients having this type of mycosis confirmed by mycological examination. RESULTS: The efficacy was analyzed in 66 out of the 79 patients included in the study (36 patients treated with oxiconazole, 30 with ketoconazole). At Day 14, a first assessment was made and 77.1 p. 100 of the patients treated with oxiconazole had been cured; this result was significantly better (p < 0.05) than that obtained with ketoconazole (51.7 p. 100 of cured patients). At Day 21, after a further week of treatment, both treatments were efficient with statistically non-different results between the two groups: 97.2 p. 100 of the patients treated with oxiconazole, versus 86.7 p. 100 with ketoconazole. Thus, a greater rapidity of action of oxiconazole was observed. No correlation was detected between the ratio of cured patients and the duration of the mycosis. The safety was assessed in 74 patients. No adverse effects were reported for the patients treated with oxiconazole, whereas 9 patients treated with ketoconazole experienced contact sensitization reactions and irritant skin reactions due to the application of the product. The difference between the two groups of treatment was statistically greatly significant (p < 0.001). Furthermore, acceptance of the drug on the part of the patient was better (p < 0.05) with oxiconazole. DISCUSSION: After 3 weeks of topical treatment oxiconazole has revealed itself to be as efficient as ketoconazole, but it seems more rapidly efficient and better tolerated than ketoconazole.
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Antifúngicos/uso terapéutico , Dermatomicosis/tratamiento farmacológico , Imidazoles/uso terapéutico , Cetoconazol/uso terapéutico , Administración Tópica , Método Doble Ciego , Tolerancia a Medicamentos , Ingle , Humanos , Estudios Prospectivos , Resultado del TratamientoAsunto(s)
Quiste Epidérmico/diagnóstico , Enfermedades del Pie/diagnóstico , Adulto , Femenino , Humanos , Dedos del PieRESUMEN
INTRODUCTION: The involvement of eyelashes and eyelids by dermatophytes is unfrequent. CASE REPORT: We describe such a case in a 48 year old woman, who presented with unilateral blepharitis, resistant to topical treatments with antiseptics, antibiotics and corticosteroids. Diagnosis was suspected by magnifying lens and Wood's light examination; Microsporum canis was isolated from broken eyelashes and scales of annular lesions of eyelids. CONCLUSION: This case emphasizes the interest of mycological examination of eyelashes and eyelids in front of a persisting unilateral blepharitis.
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Blefaritis/etiología , Pestañas , Microsporum , Tiña/complicaciones , Blefaritis/microbiología , Pestañas/microbiología , Femenino , Humanos , Persona de Mediana Edad , Tiña/microbiologíaAsunto(s)
Melanoma/genética , Melanoma/patología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Primarias Secundarias/diagnóstico , Nevo/patología , Educación del Paciente como Asunto , Factores de RiesgoRESUMEN
We report here a case of a 49 year-old woman who developed a unilateral Jaccoud's arthropathy 9 years after a mycosis fungoides of the left hand. This rheumatic affection, described in 1866, is a deformation of the hands or of the feet linked to a periarticular disease without any bone lesion. Many causes have been registered but the most frequent etiology is the systemic lupus erythematosus. The mycosis fungoides had never been reported as yet to be responsible to the Jaccoud's arthropathy.
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Deformidades Adquiridas de la Mano/etiología , Artropatías/etiología , Articulación Metacarpofalángica , Micosis Fungoide/complicaciones , Femenino , Deformidades Adquiridas de la Mano/fisiopatología , Humanos , Artropatías/fisiopatología , Persona de Mediana Edad , Micosis Fungoide/fisiopatología , SíndromeRESUMEN
In a multicentre, double-blind, randomized, parallel group clinical trial, the efficacy and tolerability of flutrimazole 1% dermal cream were compared with those of a reference compound, clotrimazole 1% dermal cream, applied topically twice daily for 4 weeks in patients with clinically and mycologically diagnosed fungal infection of the skin. A total of 484 patients were included in the study (244 patients received flutrimazole cream and 240 clotrimazole cream). According to an intention to treat analysis of the data, there was no difference between the treatments in terms of the rate of mycological cure after 4 weeks: 79% of patients in the clotrimazole group and 80% of patients in the flutrimazole group were mycologically cured (P = 0.83). From a safety point of view, flutrimazole and clotrimazole were well tolerated and the overall incidence of adverse reactions (mainly mild local reactions such as irritation or burning sensation) was 7%. This study shows that, in the treatment of fungal infections of the skin, topically applied flutrimazole has good efficacy, similar to that of clotrimazole, and is well tolerated.
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Clotrimazol/análogos & derivados , Clotrimazol/administración & dosificación , Dermatomicosis/tratamiento farmacológico , Administración Tópica , Adolescente , Adulto , Anciano , Antifúngicos/administración & dosificación , Clotrimazol/efectos adversos , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
INTRODUCTION: Histologically pachydermodactyly results from fibromatosis. Characteristically, the clinical picture occurs almost exclusively in young men. The lesion is localized on the laterodorsal aspect of the proximal phalanges of both hands. CASE REPORT: We observed a 19-year-old man with deformity of the laterodorsal aspect of the first phalanx of the fingers on both hands which had been present for several years. The clinical course and histology of the deformity as well as the lack of any bone lesions led to the diagnosis of pachydermodactyly. COMMENTS: Pachydermodactyl is a rare disease. Our case was comparable to those reported in the literature. A mechanical cause is accepted by most authors.
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Fibroma/patología , Dedos/anomalías , Deformidades Adquiridas de la Mano , Adulto , Deformidades Adquiridas de la Mano/patología , Humanos , Masculino , Factores Sexuales , Piel/patologíaRESUMEN
Main biological effects of ultra-violet radiations are discussed. At a dermatological point of view, most of these effects are harmful: actinic erythema, cutaneous cancerogenesis (basal and spinous cell carcinomas, malignant cutaneous melanomas). Photo-immunosuppression and photoaging of the skin are discussed. Two benefic actions of sunlight are reviewed: synthesis of vitamin D3 and positive action of visible radiations on human psychism.
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Trastornos por Fotosensibilidad/etiología , Luz Solar/efectos adversos , Colecalciferol/efectos de la radiación , Humanos , Huésped Inmunocomprometido/efectos de la radiación , Envejecimiento de la Piel/efectos de la radiaciónAsunto(s)
Adenoma de las Glándulas Sudoríparas/diagnóstico , Glándulas Ecrinas , Neoplasias Primarias Múltiples , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Adenoma de las Glándulas Sudoríparas/patología , Adolescente , Humanos , Masculino , Piel/patología , Neoplasias de las Glándulas Sudoríparas/patologíaRESUMEN
Erythema multiforme (EM) is an acute, episodic inflammatory disorder of the skin and mucous membranes of various etiology that could be related to immunologic hypersensitivity response. EM has been previously reported to be associated with serologically defined HLA-DRw53 and DQw3 antigens. In this report, we reevaluate the role of HLA class II alleles in EM manifestations. With use of the polymerase chain reaction, followed by sequence-specific oligonucleotide hybridization, 35 unrelated Caucasian EM patients and 80 randomly selected healthy subjects were studied, and the DRB3, DRB4, DQA1, and DQB1 alleles were analyzed. The comparison of frequencies of these alleles indicates that (i) susceptibility to EM disease is more associated with the HLA-DQ than the HLA-DR subregions and (ii) that the DQB1*0301 is the most frequent allele among EM patients. Sixty-six percent of the patients had the DQB1*0301 allele compared to 31% of the controls (RR = 4.1; p less than 0.001). An even stronger DQB1*0301 association was found in the patient group with herpes-associated EM (76%; RR = 6.5; p less than 0.001). Our data demonstrate a clear association between an HLA-DQB1 allele and susceptibility to EM.
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Alelos , Eritema Multiforme/genética , Antígenos HLA-DQ/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Eritema Multiforme/inmunología , Eritema Multiforme/patología , Femenino , Predisposición Genética a la Enfermedad , Cadenas beta de HLA-DQ , Humanos , Masculino , Persona de Mediana EdadRESUMEN
A human sunburn cell (SBC) count is used to evaluate the reduction in UV-induced skin damage achieved by a highly protective sunscreen formulation containing 3 filters and reflective pigments (sun protection factor 34). Results indicate that, for the same minimal erythema level, SBC counts do not significantly differ between protected and unprotected skin, showing that the very high efficacy demonstrated against actinic erythema also extends to UV-induced skin damage.