RESUMO
Myeloid neoplasm with eosinophilia and abnormalities of Alpha type platelet derived growth factor receptor (PDGFRA) is a type of hypereosinophilic syndrome characterized by multiorgan damage due to eosinophilia. Its association with thrombotic thrombocytopenic purpura (TTP) has rarely been reported. We describe here a case report of a female in whom TTP presented as one of the earlier manifestations of myeloproliferative HES with rearrangement of PDGFRA. Our patient was found to have a normal ADAMTS-13 level which is not commonly seen with TTP. This case illustrates the importance of recognizing the atypical presentations of HES which may be difficult to recognize.
Assuntos
Síndrome Hipereosinofílica/diagnóstico , Transtornos Mieloproliferativos/diagnóstico , Proteínas de Fusão Oncogênica/genética , Púrpura Trombocitopênica Trombótica/diagnóstico , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Fatores de Poliadenilação e Clivagem de mRNA/genética , Adulto , Feminino , Rearranjo Gênico , Humanos , Síndrome Hipereosinofílica/genética , Transtornos Mieloproliferativos/genéticaRESUMO
PURPOSE OF REVIEW: Ocular surface squamous neoplasia (OSSN) in sub-Saharan countries is an aggressive tumor that affects younger patients and appears to be increasing in incidence. There are data to suggest the association of this disease with solar radiation exposure, HIV, and human papilloma virus (HPV). This trend possibly reflects the association of the high incidence of HIV, concomitant high incidence of exposure to HPV, and the solar radiation exposure that people in this region of the world receive. We undertook a PubMed search with the terms 'ocular surface squamous neoplasia', 'conjunctival carcinoma', 'HIV' and 'HPV', and 'sub-Saharan/Africa' to ascertain the scope of the problem and to review the available data, with an emphasis on publications of 2009 and the first quarter of 2010. RECENT FINDINGS: There is increasing evidence of a significant association between HIV seropositivity and OSSN. The role of HPV as contributing to the cause of OSSN is being investigated. SUMMARY: Patients with conjunctival cancer in sub-Saharan Africa are typically younger and more than 50% have underlying HIV infection. Initial presentation can be asymptomatic; however, many of these patients have advanced disease before they seek medical help and OSSN appears to have a more aggressive clinical course in sub-Saharan Africa. Treatment in Africa is primarily surgical. Chemotherapy and antiviral agents have been used. A diagnosis of OSSN in younger patients in sub-Saharan Africa should prompt HIV serotesting.