Literature DB >> 11925649

[Maffucci's syndrome--case report of a 5-year-old female patient].

J Babala1, F Horn, L Plank, P Szépe, V Cingel, M Vidiscák, S Studený, J Siman.   

Abstract

Maffucci's syndrome is a congenital non-hereditary syndrome characterized by a combination of dyschondroplasia (enchondromatosis) and haemangiomatosis. It is a rare disease. During the last 140 years only 200 cases were described [5]. 109 cases are described in the literature by other authors [21]. This disease is associated with a high risk of development of neoplastic processes, in particular sarcomatous transformation of enchondromatoses as well as other mesodermal and non-mesodermal malignities [13]. Based on the incidence of spinocellular haemangioendothelioma with other congenital syndromes, the presence at a young age of patients and the multicentric incidence support the assumption that spinocellular haemangioendothelioma may be the manifestation of genetically based mesodermal disease which may be associated with the picture of Maffucci's syndrome [6]. In their case-history the authors present a 5-year-old patient. They describe the clinical course and findings taking into account possible manifestations and risks associated with the disease. With regard to the low incidence of the disease and its interdisciplinary character the authors pen the question of possible causal, symptomatic or palliative treatment.

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Mesh:

Year:  2002        PMID: 11925649

Source DB:  PubMed          Journal:  Rozhl Chir        ISSN: 0035-9351


  2 in total

1.  Maffucci Syndrome with Hemangioma of the Liver.

Authors:  Raffaele Pezzilli; Carla Serra; Paola Tomassetti; Emilio Brocchi; Davide Campana; Roberto Corinaldesi
Journal:  Case Rep Gastroenterol       Date:  2009-01-16

2.  The association between intracranial tumours and multiple dyschondroplasia (Ollier's disease or Maffucci's syndrome): do children and adults differ?

Authors:  Adrianna Ranger; Artur Szymczak
Journal:  J Neurooncol       Date:  2009-06-09       Impact factor: 4.130

  2 in total

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