RESUMO
BACKGROUND: Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%. CASE PRESENTATION: The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation. CONCLUSION: Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.
RESUMO
A colestase intra-hepática recorrente benigna é uma doença rara, caracterizada por episódios autolimitados e recorrentes de icterícia e prurido de duração variável, na ausência de obstrução extra-hepática ou outras causas de colestase, tendo prognóstico clínico favorável. O objetivo deste artigo é mostrar um caso de síndrome colestática em uma paciente jovem do sexo feminino com história de icterícia e prurido no período gestacional, sendo atribuída inicialmente à colestase intra-hepática gestacional com interrupção prematura da gravidez; a recorrência dos sintomas numa fase tardia do puerpério redirecionou-nos a outro diagnóstico etiológico. Neste episódio foi realizada uma investigação criteriosa, para a exclusão de outras causas de colestase (AU)
Benign recurrent intrahepatic cholestasis is a rare disorder, characterized by selflimited and recurrent episodes of jaundice and pruritus with variable duration, in the absence of extrahepatic obstruction or other causes of cholestasis, having a favorable clinical prognosis. The objective of this article is to show a case of cholestatic syndrome in a young female patient with a history of jaundice and pruritus in the pregnancy period, which was first attributed to an intrahepatic cholestasis of pregnancy with premature interruption of pregnancy, but the recurrence of symptoms in a late puerperal stage redirected us to a different etiologic diagnosis. In this episode a judicious investigation was carried out for excluding other causes of cholestasis (AU)