RESUMEN
We report the case of a 6-year-old Caucasian girl with clinical and histopathologic features of Buschke-Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke-Ollendorff syndrome were found in the girl's mother. Mutations in LEMD3 are pathogenic for Buschke-Ollendorff syndrome. Analysis of all exons and exon-intron junctions of LEMD3 did not reveal any germline mutations.
Asunto(s)
Proteínas de la Membrana/genética , Proteínas Nucleares/genética , Osteopoiquilosis/genética , Enfermedades Cutáneas Genéticas/genética , Piel/patología , Niño , Proteínas de Unión al ADN , Tejido Elástico/patología , Femenino , Mutación de Línea Germinal , Humanos , Análisis de Secuencia de ADNRESUMEN
UNLABELLED: Kaposi sarcoma (KS) remains a challenge. Its classic or Mediterranean form tends to be benign. In transplant recipients it may be less so. As part of the AIDS pandemic, of which it was an original defining component, it may be life-threatening. It is due to human herpesvirus-8, which is necessary but not sufficient to produce the disease. KS has a low prevalence in the general population of the United States and United Kingdom, with an intermediate rate in Italy and Greece, and a high one in parts of Africa. In Italy, hot spots include its southern regions, the Po River Valley, and Sardinia, possibly related to a high density of blood-sucking insects. An important challenge is to treat KS patients without immunocompromising them. The potential of effective anti-herpes virus therapy and the use of sirolimus in transplantation recipients have added new opportunities for KS prevention. LEARNING OBJECTIVES: At the conclusion of this learning activity, participants should be able to provide the most recent information about Kaposi sarcoma in the context in which it occurs. Its classic or Mediterranean form, its pattern in transplant recipients and others iatrogenically immunosuppressed, and its occurrence as a potentially life-threatening part of the AIDS pandemic will be stressed. Its etiology and transmission will be discussed in detail to facilitate understanding of Kaposi sarcoma and of human herpesvirus-8 infection in the general population of the United States and United Kingdom, in Italy and Greece, and in certain parts of Africa. Its therapy, including the concept of doing it without immunocompromising the patient, will be stressed. New opportunities for Kaposi sarcoma prevention will also be discussed.
Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Sarcoma de Kaposi/epidemiología , Sarcoma de Kaposi/prevención & control , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/prevención & control , África/epidemiología , Grecia/epidemiología , Humanos , Huésped Inmunocomprometido , Italia/epidemiología , Prevalencia , Sarcoma de Kaposi/etiología , Neoplasias Cutáneas/etiología , Reino Unido/epidemiología , Estados Unidos/epidemiologíaRESUMEN
Over the last years it has started a real revolution in the treatment of chronic hepatitis C. This occurred for the availability of direct-acting antiviral agents that allow to reach sustained virologic response in approximately 90% of cases. In the near future further progress will be achieved with the use of pan-genotypic drugs with high efficacy but without side effects.