ABSTRACT
The Fundação de Medicina Tropical Dr. Heitor Vieira Dourado (FMT-HVD), located in Manaus, the capital of the State of Amazonas (Western Brazilian Amazon), is a pioneering institution in this region regarding the syndromic surveillance of acute febrile illness, including arboviral infections. Based on the data from patients at the FMT-HVD, we have detected recurrent outbreaks in Manaus by the four dengue serotypes in the past 15 years, with increasing severity of the disease. This endemicity has culminated in the simultaneous circulation of all four serotypes in 2011, the first time this has been reported in Brazil. Between 1996 and 2009, 42 cases of yellow fever (YF) were registered in the State of Amazonas, and 71.4% (30/42) were fatal. Since 2010, no cases have been reported. Because the introduction of the yellow fever virus into a large city such as Manaus, which is widely infested by Aedes mosquitoes, may pose a real risk of a yellow fever outbreak, efforts to maintain an appropriate immunization policy for the populace are critical. Manaus has also suffered silent outbreaks of Mayaro and Oropouche fevers lately, most of which were misdiagnosed as dengue fever. The tropical conditions of the State of Amazonas favor the existence of other arboviruses capable of producing human disease. Under this real threat, represented by at least 4 arboviruses producing human infections in Manaus and in other neighboring countries, it is important to develop an efficient public health surveillance strategy, including laboratories that are able to make proper diagnoses of arboviruses.
Subject(s)
Animals , Melanosis/genetics , Pigmentation/genetics , Receptor, Melanocortin, Type 1/genetics , Sciuridae/genetics , Amino Acid Sequence , Evolution, Molecular , Genetic Association Studies , Genetic Variation , Molecular Sequence Data , Pedigree , Sciuridae/classification , Sequence Deletion/geneticsABSTRACT
Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous neoplasms of the human digestive tract. They locate preferentially in stomach, duodenum or small bowel. Usually sporadic, familial cases unrelated to neurofibromatosis may be due to germline mutations in KIT or PDGFRA. We describe the first Argentine family with GIST in which we found, diffuse cutaneous melanosis, lentiginosis, and dysphagia. Dysphagia was not observed in the four families previously described with the same mutation. Histopathology resulted consistent with GIST, and tumor immunohistochemistry was likewise positive for DOG-1, CD117 (KIT) and CD34. The search for germline mutations identified the KIT c.1697T > C (p.559V > A) substitution in exon 11. Treatment with imatinib is furnishing positive results.
Subject(s)
Melanosis/genetics , Germ-Line Mutation/genetics , Proto-Oncogene Proteins c-kit/genetics , Deglutition Disorders/genetics , Gastrointestinal Stromal Tumors/genetics , Adolescent , Adult , Child , Female , Humans , Immunohistochemistry , Pedigree , Male , Melanosis/diagnosis , Middle Aged , Deglutition Disorders/diagnosis , Gastrointestinal Stromal Tumors/diagnosisABSTRACT
Los mosaicismos pigmentarios son enfermedades névicas caracterizadas por la presencia en piel de máculas híper o hipopigmentadas de distribución según patrones clínicos preestablecidos. En ocasiones presentan asociaciones extracutáneas que alteran el desarrollo normal del individuo. Presentamos una recopilación de todos los casos de mosaicismos pigmentarios evaluados en nuestro Servicio en laúltima década
Subject(s)
Humans , Male , Female , Melanosis/genetics , Melanosis/pathology , Hyperpigmentation/genetics , Hyperpigmentation/pathology , Hypopigmentation/genetics , Hypopigmentation/pathology , Mosaicism , Skin/pathology , X ChromosomeABSTRACT
Congenital diffuse melanosis is one of the rarest clinical manifestations of hereditary universal melanosis and only few cases have been reported all over the world. The presented case is a 54-year-old man who presented to us complaining of erythematous annular lesions on his face and neck 8 months ago. Diffuse pigmentation of his skin took our attention. According to the patient, diffuse hyperpigmentation was present at birth and there was no obvious changes up to now. His mother and sister had similar hyperpigmentation. He had two sons with a similar hyperpigmentaion, but his daughter had normal skin pigmentation. All laboratory investigation for the causes of hyperpigmentaion were reported normal and investigation for causes of secondary hyperpigmentation did not reveal any abnormality. In histopathologic assay, the erythematous lesion was reported to be discoid lupus erythematosus and the diagnosis of hyperpigmented lesion reported as congenital diffuse melanosis
Subject(s)
Humans , Male , Melanosis/diagnosis , Melanosis/genetics , HyperpigmentationABSTRACT
Se reporta un caso de lactante mayor femenino de 2 meses de edad, portador de lesiones cutáneas hipocrómicas, congénitas, con alteración del desarrollo musculoesquelético y alteraciones neurológicas leves. El hallazgo histopatológico de las lesiones cutáneas fue compatible con Hipomelanosis de Ito. El cariotipo de fibroblastos de piel y de linfocitos de sangre periférica se reportó como 46, XX normal. Se revisa en la literatura los reportes de alteraciones extracutáneas asociadas y criterios diagnósticos