RESUMEN
BACKGROUND: Median raphe cysts are rare benign lesions of the male genitalia. They may be present along the entire raphe, from the urethral meatus to the anus, in the median position. We report herein a case of median raphe cyst with an atypical clinical and histological presentation. PATIENTS AND METHODS: An 11-year-old boy consulted in dermatology for an asymptomatic perineal lesion. The clinical examination revealed a linear cystic lesion with clear content extending from the base of the scrotum to the anus. The histological diagnosis was a superficial dermal glandular cyst suggestive of a possibly apocrine origin in this topography, or possibly due to malformation. DISCUSSION: Different clinical and histological features of median raphe cysts have been reported in the literature. Treatment is mainly surgical.
Asunto(s)
Quistes/patología , Enfermedades de los Genitales Masculinos/patología , Niño , Humanos , MasculinoRESUMEN
BACKGROUND: Tuberculosis is the most common mycobacterial disease in the world. The cutaneous form is rare in low endemic countries. The occurrence of several cutaneous tuberculosis cases in our dermatology department during 2011-2012 led us to investigate whether there was a resurgence of cutaneous tuberculosis in France. The aim was to analyse changes in cutaneous tuberculosis and the related clinical, microbiological and therapeutic data. PATIENTS AND METHODS: We conducted a retrospective study in our hospital between 2005 and 2012 by querying the PMSI database (code: A 18.4). Epidemiological, clinical, paraclinical and therapeutic data were collected. Erythema induratum was regarded as a variety of cutaneous tuberculosis. RESULTS: Thirteen patients presented cutaneous tuberculosis between 2005 and 2012. The most frequent clinical forms were erythema induratum of Bazin (n=6) and scrofuloderma (n=3). Microbiological evidence was provided in only 4 cases. DISCUSSION: Diagnosis is difficult due to the varied clinical forms and to the relatively high frequency of paucibacillary forms. Further, the set of additional examinations is non-specific. In some cases, it is only therapeutic tests that allow diagnosis to be made. The place of new diagnostic tools must be clarified and a universally acceptable definition of erythema induratum devised.
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Tuberculosis Cutánea/epidemiología , África del Norte/etnología , Anciano , Antituberculosos/uso terapéutico , Técnicas Bacteriológicas , Diagnóstico Tardío , Diagnóstico Diferencial , Eritema Indurado/diagnóstico , Eritema Indurado/tratamiento farmacológico , Eritema Indurado/epidemiología , Eritema Nudoso/diagnóstico , Femenino , Francia/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Portugal/etnología , Estudios Retrospectivos , Factores de Riesgo , Úlcera Cutánea/etiología , Tuberculosis Cutánea/diagnóstico , Tuberculosis Cutánea/tratamiento farmacológicoAsunto(s)
Osteopoiquilosis/diagnóstico , Enfermedades Cutáneas Genéticas/diagnóstico , Niño , Colorantes , Diagnóstico Diferencial , Tejido Elástico/patología , Epífisis/diagnóstico por imagen , Fibrosis , Humanos , Masculino , Osteopoiquilosis/patología , Oxazinas , Radiografía , Piel/patología , Enfermedades Cutáneas Genéticas/patología , Coloración y EtiquetadoAsunto(s)
Inmovilización/efectos adversos , Úlcera de la Pierna/patología , Úlcera por Presión/patología , Anciano , Artroplastia de Reemplazo de Cadera , Biopsia , Cicatriz Hipertrófica/etiología , Cicatriz Hipertrófica/patología , Imagen de Difusión por Resonancia Magnética , Femenino , Fibrosis/etiología , Humanos , Úlcera de la Pierna/etiología , Linfedema/complicaciones , Obesidad/complicaciones , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/patología , MusloRESUMEN
The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation. To determine relationships between genotype and renal and hepatic abnormalities we correlated the severity of renal and hepatic histological lesions to the type of PKHD1 mutations in 54 fetuses (medical pregnancy termination) and 20 neonates who died shortly after birth. Within this cohort, 55.5% of the mutations truncated fibrocystin. The severity of cortical collecting duct dilatations, cortical tubule and glomerular lesions, and renal cortical and hepatic portal fibrosis increased with gestational age. Severe genotypes, defined by two truncating mutations, were more frequent in patients of less than 30 weeks gestation compared to older fetuses and neonates. When adjusted to gestational age, the extension of collecting duct dilatation into the cortex and cortical tubule lesions, but not portal fibrosis, was more prevalent in patients with severe than in those with a non-severe genotype. Our results show the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease. Their absence, however, does not guarantee survival to the neonatal period.
Asunto(s)
Enfermedades Fetales/genética , Enfermedades Fetales/patología , Mutación , Riñón Poliquístico Autosómico Recesivo/genética , Riñón Poliquístico Autosómico Recesivo/patología , Receptores de Superficie Celular/genética , Genotipo , Humanos , Recién Nacido , FenotipoRESUMEN
Fetus in fetu is an extremely rare condition defined by the presence of both axial skeleton and organoid formations in the parasitic mass. Besides some authors assuming that fetus in fetu and highly-differentiated teratomas are part of the same pathogenic spectrum, it has been emphasized that these criteria indicate a rather different embryogenetic mechanism. We herein report the first case to our knowledge developed in the ventral mediastinum that was thought to be a tumor before birth. The literature is reviewed and we propose a new explanation for the development of this rare anomaly, based on a defective implantation.
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Enfermedades en Gemelos/embriología , Feto/anomalías , Adulto , Anencefalia/diagnóstico , Anencefalia/embriología , Diagnóstico Diferencial , Enfermedades en Gemelos/diagnóstico , Femenino , Humanos , Recién Nacido , Masculino , Mediastino/anomalías , Mediastino/embriología , Embarazo , Diagnóstico Prenatal , Teratoma/diagnóstico , Teratoma/embriología , Gemelos MonocigóticosAsunto(s)
Abdomen Agudo/diagnóstico por imagen , Calcinosis/diagnóstico por imagen , Colon/anomalías , Tomografía Computarizada por Rayos X , Abdomen Agudo/etiología , Abdomen Agudo/patología , Calcinosis/patología , Niño , Colon/diagnóstico por imagen , Colon/patología , Diagnóstico Diferencial , Femenino , HumanosRESUMEN
We report a case of unilateral primary Burkitt lymphoma of the breast. It occurred in a young woman with a history of recent abortion, as a painful mass confused with an abscess. The diagnostic was suggested after fine needle aspiration. Biopsy allowed confirmation, by revealing a B-phenotype lymphoma with intranuclear Epstein-virus small RNA (EBER) in all cells. Additional investigations (clinical and radiographic) were negative (no lymphadenopathy). Chemotherapy induced rapid and complete remission. Patient is in good health (no local recurrence) 5 years later.
Asunto(s)
Neoplasias de la Mama/patología , Linfoma de Burkitt/patología , Adulto , África , Femenino , HumanosRESUMEN
Ten undifferentiated thyroid carcinomas detected between 1976 and 1991, were reviewed by means of immunohistochemical techniques. These tumors were highly aggressive with a mean survival rate of three months after the histological diagnosis. They were predominant in women and always occurred in old people (mean age 63.1 years). Four tumours were composed of differentiated trabecular areas. Another one was included in a microvesicular adenoma and a sixth one occurred as a recurrence of a papillary carcinoma surgically treated four months previously. Six tumours were cytokeratin-positive and two of them showed a cytokeratin-vimentin coexpression. These results, like those of an electron microscopic analysis of 1 case, confirm the epithelial origin of these tumours. Undifferentiated carcinomas must be distinguished from poorly differentiated carcinomas and from malignant non Hodgkin lymphomas which have a better prognosis and a different therapeutic approach. The immunohistochemistry and the electron microscopy are useful to identify undifferentiated thyroid carcinomas.