Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Autofagia/genética , Melanoma/genética , Neoplasias Cutâneas/genética , Biomarcadores Tumorais/genética , Humanos , Melanoma/epidemiologia , Melanoma/patologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Proteína Sequestossoma-1 , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Melanoma Maligno CutâneoRESUMO
Pai syndrome is a rare disorder characterized by congenital nasal or facial polyp, midline cleft lip, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report on three patients with Pai syndrome and atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and epilepsy. Thirty-three cases of Pai syndrome have been described so far. We present a review of the previously reported cases and suggest modified diagnostic criteria for Pai syndrome.
Assuntos
Agenesia do Corpo Caloso/diagnóstico , Fenda Labial/diagnóstico , Coloboma/diagnóstico , Lipoma/diagnóstico , Pólipos Nasais/diagnóstico , Dermatopatias/diagnóstico , Encéfalo/patologia , Criança , Fácies , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , FenótipoRESUMO
The increase in reports of novel diseases in a wide range of ecosystems, both terrestrial and marine, has been linked to many factors including exposure to novel pathogens and changes in the global climate. Prevalence of skin cancer in particular has been found to be increasing in humans, but has not been reported in wild fish before. Here we report extensive melanosis and melanoma (skin cancer) in wild populations of an iconic, commercially-important marine fish, the coral trout Plectropomus leopardus. The syndrome reported here has strong similarities to previous studies associated with UV induced melanomas in the well-established laboratory fish model Xiphophorus. Relatively high prevalence rates of this syndrome (15%) were recorded at two offshore sites in the Great Barrier Reef Marine Park (GBRMP). In the absence of microbial pathogens and given the strong similarities to the UV-induced melanomas, we conclude that the likely cause was environmental exposure to UV radiation. Further studies are needed to establish the large scale distribution of the syndrome and confirm that the lesions reported here are the same as the melanoma in Xiphophorus, by assessing mutation of the EGFR gene, Xmrk. Furthermore, research on the potential links of this syndrome to increases in UV radiation from stratospheric ozone depletion needs to be completed.